Variant report

Variant	nsv1029448
Chromosome Location	chr5:180242884-180429831
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2090)
CpG islands
(count:3905)
Chromatin interactive
region (count:188)
LncRNA
region (count:81)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2090 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr5:180258377-180258920	GM12878	blood:	n/a	n/a
2	ATF2	chr5:180247668-180248301	GM12878	blood:	n/a	chr5:180248216-180248227
3	ATF2	chr5:180257705-180258044	GM12878	blood:	n/a	n/a
4	ATF2	chr5:180295130-180295721	GM12878	blood:	n/a	n/a
5	ATF2	chr5:180257642-180258201	GM12878	blood:	n/a	n/a
6	ATF2	chr5:180287641-180288731	GM12878	blood:	n/a	n/a
7	ATF2	chr5:180288318-180288726	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr5:180259450-180260089	GM12878	blood:	n/a	n/a
9	ATF2	chr5:180287523-180287977	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF3	chr5:180258535-180258898	A549	lung:	n/a	n/a
11	ATF3	chr5:180266949-180267264	K562	blood:	n/a	n/a
12	ATF3	chr5:180300916-180301148	K562	blood:	n/a	n/a
13	ATF3	chr5:180300831-180301293	K562	blood:	n/a	n/a
14	BATF	chr5:180300881-180301195	GM12878	blood:	n/a	n/a
15	BATF	chr5:180295385-180295684	GM12878	blood:	n/a	n/a
16	BATF	chr5:180336078-180336346	GM12878	blood:	n/a	n/a
17	BATF	chr5:180295359-180295616	GM12878	blood:	n/a	n/a
18	BATF	chr5:180300882-180301218	GM12878	blood:	n/a	n/a
19	BCL11A	chr5:180402385-180402643	GM12878	blood:	n/a	chr5:180402541-180402550
20	BCL3	chr5:180257765-180258237	A549	lung:	n/a	n/a
21	BCL3	chr5:180258428-180258981	A549	lung:	n/a	n/a
22	BCL3	chr5:180258428-180259048	A549	lung:	n/a	n/a
23	BCL3	chr5:180287597-180288561	A549	lung:	n/a	chr5:180288052-180288061 chr5:180287721-180287730
24	BCLAF1	chr5:180287393-180288777	GM12878	blood:	n/a	chr5:180288589-180288598 chr5:180288052-180288061 chr5:180287721-180287730
25	BCLAF1	chr5:180288001-180288500	K562	blood:	n/a	chr5:180288052-180288061
26	BCLAF1	chr5:180259390-180260221	GM12878	blood:	n/a	chr5:180259952-180259965 chr5:180259629-180259638
27	BCLAF1	chr5:180257793-180258873	GM12878	blood:	n/a	n/a
28	BCLAF1	chr5:180287997-180288590	K562	blood:	n/a	chr5:180288052-180288061
29	BCLAF1	chr5:180287607-180288667	GM12878	blood:	n/a	chr5:180288589-180288598 chr5:180288052-180288061 chr5:180287721-180287730
30	BCLAF1	chr5:180257580-180258891	GM12878	blood:	n/a	n/a
31	CBX3	chr5:180351911-180352108	K562	blood:	n/a	n/a
32	CBX3	chr5:180256725-180258272	K562	blood:	n/a	n/a
33	CBX3	chr5:180253096-180253684	HCT-116	colon:	n/a	n/a
34	CBX3	chr5:180365208-180365610	HCT-116	colon:	n/a	n/a
35	CBX3	chr5:180276855-180278276	K562	blood:	n/a	n/a
36	CBX3	chr5:180295820-180296390	K562	blood:	n/a	n/a
37	CBX3	chr5:180258360-180258953	K562	blood:	n/a	n/a
38	CBX3	chr5:180245996-180246265	K562	blood:	n/a	n/a
39	CBX3	chr5:180300550-180301335	K562	blood:	n/a	n/a
40	CBX3	chr5:180365297-180365622	K562	blood:	n/a	n/a
41	CBX3	chr5:180277408-180278141	HCT-116	colon:	n/a	n/a
42	CBX3	chr5:180277464-180277788	K562	blood:	n/a	n/a
43	CBX3	chr5:180275961-180276367	K562	blood:	n/a	n/a
44	CBX3	chr5:180300400-180301493	K562	blood:	n/a	n/a
45	CBX3	chr5:180255752-180256324	K562	blood:	n/a	n/a
46	CBX3	chr5:180312826-180313332	K562	blood:	n/a	n/a
47	CBX3	chr5:180255728-180256481	K562	blood:	n/a	n/a
48	CBX3	chr5:180287631-180288621	K562	blood:	n/a	n/a
49	CEBPB	chr5:180300960-180301219	K562	blood:	n/a	n/a
50	CEBPB	chr5:180275206-180275626	MCF-7	breast:	n/a	n/a

(count:3905 , 50 per page) page: 1 2 3 4 5 6 7 ... 79

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:180295053-180295103	HepG2	liver:	n/a
2	chr5:180295053-180295103	HepG2	liver:	n/a
3	chr5:180256781-180256831	SAEC	small airway:	n/a
4	chr5:180336487-180336537	NH-A	brain:	n/a
5	chr5:180257795-180257845	MCF10A-Er-Src	breast:	n/a
6	chr5:180325579-180325629	MCF10A-Er-Src	breast:	n/a
7	chr5:180408813-180408863	LNCaP	prostate:	n/a
8	chr5:180272367-180272417	GM12878	blood:	n/a
9	chr5:180287559-180287609	AG04450	lung:	fetal
10	chr5:180288855-180288905	HMEC	breast:	n/a
11	chr5:180397496-180397546	SK-N-MC	brain:	n/a
12	chr5:180429512-180429562	MCF10A-Er-Src	breast:	n/a
13	chr5:180258557-180258607	IMR90	lung:	fetal
14	chr5:180258852-180258902	Hela-S3	cervix:	n/a
15	chr5:180415938-180415988	GM19239	blood:	n/a
16	chr5:180258852-180258902	A549	lung:	n/a
17	chr5:180252309-180252359	ProgFib	skin:	n/a
18	chr5:180397332-180397382	SK-N-SH	brain:	n/a
19	chr5:180325254-180325304	SKMC	muscle:	n/a
20	chr5:180377617-180377667	SK-N-SH_RA	brain:	n/a
21	chr5:180429512-180429562	AG09309	skin:	n/a
22	chr5:180338435-180338485	CMK	blood:	n/a
23	chr5:180244832-180244882	HRCEpiC	kidney:	n/a
24	chr5:180338435-180338485	Hela-S3	cervix:	n/a
25	chr5:180258557-180258607	Jurkat	blood:	n/a
26	chr5:180287825-180287875	AoSMC	blood vessel:	n/a
27	chr5:180325969-180326019	Hepatocyte	liver:	n/a
28	chr5:180408809-180408859	LNCaP	prostate:	n/a
29	chr5:180288995-180289045	AG09319	gingival:	n/a
30	chr5:180428536-180428586	HMEC	breast:	n/a
31	chr5:180377617-180377667	AG09309	skin:	n/a
32	chr5:180286118-180286168	HCM	heart:	n/a
33	chr5:180338435-180338485	NH-A	brain:	n/a
34	chr5:180396687-180396737	HCPEpiC	choroid plexus:	n/a
35	chr5:180338435-180338485	NB4	blood:	n/a
36	chr5:180258852-180258902	HRPEpiC	eye:	n/a
37	chr5:180325954-180326004	RPTEC	kidney:	n/a
38	chr5:180415938-180415988	HCM	heart:	n/a
39	chr5:180248914-180248964	HIPEpiC	eye:	n/a
40	chr5:180325579-180325629	SK-N-SH_RA	brain:	n/a
41	chr5:180272367-180272417	AG09309	skin:	n/a
42	chr5:180408809-180408859	Jurkat	blood:	n/a
43	chr5:180258852-180258902	AG10803	skin:	n/a
44	chr5:180258762-180258812	HRE	kidney:	n/a
45	chr5:180325254-180325304	HCF	heart:	n/a
46	chr5:180272367-180272417	SK-N-MC	brain:	n/a
47	chr5:180257795-180257845	A549	lung:	n/a
48	chr5:180428536-180428586	HEK293	kidney:	embryo
49	chr5:180336487-180336537	AG04450	lung:	fetal
50	chr5:180288995-180289045	HL-60	blood:	n/a

(count:188 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr5:180301093..180303783-chr5:180304288..180306195,2	K562	blood:
2	chr5:180228031..180230833-chr5:180251681..180254040,4	K562	blood:
3	chr5:180287191..180290968-chr5:180649202..180652395,5	MCF-7	breast:
4	chr5:180365455..180367609-chr5:180368045..180370105,2	K562	blood:
5	chr5:180237463..180239792-chr5:180299138..180300756,2	K562	blood:
6	chr5:180213340..180215269-chr5:180288720..180290898,2	K562	blood:
7	chr5:180255602..180258511-chr5:180276329..180279939,4	K562	blood:
8	chr5:180299852..180302725-chr5:180469235..180471904,2	K562	blood:
9	chr5:180301189..180302712-chr5:180475521..180478007,2	K562	blood:
10	chr5:180255602..180258414-chr5:180276329..180278582,3	K562	blood:
11	chr5:180255602..180258414-chr5:180276329..180278582,3	K562	blood:
12	chr5:180253850..180256839-chr5:180278245..180279769,2	MCF-7	breast:
13	chr5:180268107..180270885-chr5:180273192..180275547,2	MCF-7	breast:
14	chr12:53294842..53296821-chr5:180286153..180288679,2	MCF-7	breast:
15	chr5:180258728..180261029-chr5:180274909..180276877,2	K562	blood:
16	chr5:180262394..180264164-chr5:180266350..180269420,3	K562	blood:
17	chr5:180288754..180291107-chr5:180359607..180361510,2	K562	blood:
18	chr5:180265528..180270549-chr5:180272492..180276468,5	K562	blood:
19	chr5:180234090..180241537-chr5:180284888..180291277,19	K562	blood:
20	chr1:25167211..25168731-chr5:180328916..180330517,2	K562	blood:
21	chr5:180264302..180266196-chr5:180270901..180273309,2	MCF-7	breast:
22	chr5:180264886..180266975-chr5:180282488..180284131,2	K562	blood:
23	chr5:180254080..180259696-chr5:180286312..180289720,8	MCF-7	breast:
24	chr5:180240345..180242769-chr5:180244325..180245984,3	K562	blood:
25	chr5:180286664..180288394-chr5:180324655..180328004,3	MCF-7	breast:
26	chr5:180288754..180291107-chr5:180359607..180361510,2	K562	blood:
27	chr5:180265528..180270549-chr5:180272492..180276468,5	K562	blood:
28	chr5:180260203..180262086-chr5:180324747..180326847,2	K562	blood:
29	chr5:180373036..180375513-chr5:180433758..180436543,3	K562	blood:
30	chr5:180257440..180260196-chr5:180299299..180300972,2	K562	blood:
31	chr5:180266275..180269354-chr5:180269662..180271992,3	MCF-7	breast:
32	chr5:180295834..180298711-chr5:180519174..180521496,2	K562	blood:
33	chr5:180258091..180260121-chr5:180265803..180269269,3	MCF-7	breast:
34	chr5:180290898..180293889-chr5:180598131..180599944,2	MCF-7	breast:
35	chr5:180292569..180294597-chr5:180585218..180588014,2	K562	blood:
36	chr5:180299186..180302514-chr5:180453782..180456636,3	K562	blood:
37	chr5:180262800..180265052-chr5:180289131..180291113,2	MCF-7	breast:
38	chr5:180260759..180263292-chr5:180278934..180280506,2	K562	blood:
39	chr5:180293338..180295885-chr5:180297016..180299416,2	MCF-7	breast:
40	chr5:180299531..180301189-chr5:180314779..180317197,2	MCF-7	breast:
41	chr5:180271906..180274510-chr5:180288158..180290911,2	K562	blood:
42	chr5:180257450..180259454-chr5:180621834..180624735,2	MCF-7	breast:
43	chr5:180235524..180237646-chr5:180274342..180276820,3	K562	blood:
44	chr5:180300732..180302453-chr5:180517860..180520718,2	K562	blood:
45	chr5:180255602..180258511-chr5:180276329..180279939,4	K562	blood:
46	chr5:180296063..180296630-chr5:180471964..180472878,2	K562	blood:
47	chr5:180336034..180338879-chr5:180339862..180342004,2	K562	blood:
48	chr5:180251826..180253544-chr5:180279600..180282158,2	MCF-7	breast:
49	chr5:180286239..180288260-chr5:180648359..180651048,2	K562	blood:
50	chr5:180295710..180296339-chr5:180482283..180482883,2	MCF-7	breast:

(count:81 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MGAT1-2	chr5:180256937-180257406	XLOC_005110
2	lnc-BTNL8-3	chr5:180261312-180262726	NR_045679
3	lnc-BTNL8-3	chr5:180258663-180258806	NONHSAT105841
4	lnc-BTNL8-1	chr5:180297962-180298361	XLOC_004685
5	lnc-MGAT1-2	chr5:180253880-180254267	XLOC_005110
6	lnc-MGAT1-2	chr5:180257008-180257406	XLOC_005110
7	lnc-ZFP62-2	chr5:180287528-180287684	NONHSAT105847
8	lnc-BTNL8-3	chr5:180256959-180258229	NONHSAT105836
9	lnc-MGAT1-2	chr5:180257708-180258946	XLOC_005110
10	lnc-ZFP62-2	chr5:180288219-180288285	NONHSAT105846
11	lnc-BTNL8-3	chr5:180258736-180258941	NONHSAT105838
12	lnc-ZFP62-2	chr5:180278381-180278493	NONHSAT105847
13	lnc-MGAT1-2	chr5:180256956-180257429	NONHSAT105835
14	lnc-BTNL8-3	chr5:180256959-180258806	NONHSAT105837
15	lnc-BTNL8-3	chr5:180257957-180258229	NR_027183
16	lnc-MGAT1-2	chr5:180257708-180258941	XLOC_005110
17	lnc-BTNL8-3	chr5:180257957-180258229	NR_045679
18	lnc-BTNL8-3	chr5:180256956-180257430	ENSG00000249705
19	lnc-MGAT1-2	chr5:180253932-180254267	XLOC_005110
20	lnc-BTNL8-3	chr5:180256959-180258229	NONHSAT105842
21	lnc-ZFP62-2	chr5:180274611-180275082	NONHSAT105847
22	lnc-BTNL8-3	chr5:180256959-180258595	NONHSAT105841
23	lnc-BTNL8-3	chr5:180258759-180258941	NONHSAT105842
24	lnc-BTNL8-3	chr5:180258736-180258971	NONHSAT105843
25	lnc-BTNL8-3	chr5:180261312-180262725	NONHSAT105837
26	lnc-MGAT1-2	chr5:180256804-180257403	XLOC_005110
27	lnc-BTNL8-3	chr5:180256969-180258229	NONHSAT105843
28	lnc-BTNL8-3	chr5:180256959-180258229	NONHSAT105838
29	lnc-MGAT1-2	chr5:180253864-180254267	XLOC_005110
30	lnc-MGAT1-2	chr5:180258725-180258806	XLOC_005110
31	lnc-BTNL8-3	chr5:180258736-180258941	NR_027183
32	lnc-MGAT1-2	chr5:180257671-180258618	NONHSAT105835
33	lnc-MGAT1-2	chr5:180257672-180258618	ENSG00000249705
34	lnc-BTNL8-3	chr5:180261312-180262725	NONHSAT105838
35	lnc-MGAT1-2	chr5:180253868-180254267	XLOC_005110
36	lnc-BTNL8-3	chr5:180256959-180258229	NONHSAT105839
37	lnc-BTNL8-3	chr5:180258024-180258229	ENSG00000245060
38	lnc-BTNL8-3	chr5:180261312-180262726	NR_027183
39	lnc-BTNL8-3	chr5:180258736-180258806	NONHSAT105839
40	lnc-BTNL8-3	chr5:180259673-180259860	ENSG00000245060
41	lnc-BTNL8-3	chr5:180261312-180262725	NONHSAT105839
42	lnc-BTNL8-3	chr5:180256959-180258229	NONHSAT105840
43	lnc-MGAT1-2	chr5:180257708-180258941	XLOC_005110
44	lnc-BTNL3-3	chr5:180374512-180375353	NONHSAT105850
45	lnc-BTNL8-3	chr5:180258759-180258941	ENSG00000245060
46	lnc-MGAT1-2	chr5:180255314-180255379	XLOC_005110
47	lnc-BTNL8-3	chr5:180258736-180258806	ENSG00000245060
48	lnc-BTNL8-3	chr5:180258039-180258229	ENSG00000245060
49	lnc-BTNL8-3	chr5:180257672-180258618	ENSG00000249705
50	lnc-BTNL8-4	chr5:180394848-180395567	NONHSAT105854

No data

Variant related genes	Relation type
ENSG00000231228	TF binding region
ENSG00000248761	TF binding region
RNU6-1036P	TF binding region
ZFP62	TF binding region
ENSG00000249287	TF binding region
RPS29P12	TF binding region
BTNL3	TF binding region
LINC00847	TF binding region
BTNL8	TF binding region
ENSG00000222852	TF binding region
MGAT1	TF binding region
ENSG00000231228	CpG island
ENSG00000248761	CpG island
RNU6-1036P	CpG island
ZFP62	CpG island
ENSG00000249287	CpG island
RPS29P12	CpG island
BTNL3	CpG island
LINC00847	CpG island
BTNL8	CpG island
ENSG00000222852	CpG island
MGAT1	CpG island
ENSG00000123358	chromatin interactions
ENSG00000264549	chromatin interactions
ENSG00000183718	chromatin interactions
ENSG00000204628	chromatin interactions
ENSG00000113303	chromatin interactions
ENSG00000142937	chromatin interactions
ENSG00000168903	chromatin interactions
ENSG00000131446	chromatin interactions
ENSG00000248514	chromatin interactions
ENSG00000225721	chromatin interactions
ENSG00000146063	chromatin interactions
ENSG00000170421	chromatin interactions
ENSG00000248275	chromatin interactions
ENSG00000243664	chromatin interactions
ENSG00000245060	chromatin interactions
ENSG00000206686	chromatin interactions
ENSG00000272296	chromatin interactions
ENSG00000146054	chromatin interactions
ENSG00000214295	chromatin interactions
ENSG00000177410	chromatin interactions
ENSG00000250900	chromatin interactions
ENSG00000222852	chromatin interactions
ENSG00000182613	chromatin interactions
ENSG00000196670	chromatin interactions
ENSG00000260841	chromatin interactions
ENSG00000262413	chromatin interactions
ENSG00000141522	chromatin interactions
ENSG00000124201	chromatin interactions
ENSG00000264732	chromatin interactions
ENSG00000165810	chromatin interactions
ENSG00000209042	chromatin interactions
ENSG00000199004	chromatin interactions
CHD9	miRNA target sites
DMXL1	miRNA target sites
ZNF785	miRNA target sites
HEBP2	miRNA target sites
SOS2	miRNA target sites
RNF141	miRNA target sites
CDC34	miRNA target sites
SHOC2	miRNA target sites
CCDC76	miRNA target sites
CLINT1	miRNA target sites
RNF144A	miRNA target sites
BTG2	miRNA target sites
TGFB2	miRNA target sites
IL1B	miRNA target sites
ASCC3	miRNA target sites
NIN	miRNA target sites
CCNJ	miRNA target sites
WTAP	miRNA target sites
SOCS5	miRNA target sites

Extended variants
information (count: 6528 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:6528 , 50 per page) page: 1 2 3 4 5 6 7 ... 131

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182506516	chr5:180242896-180242897	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs184755568	chr5:180242924-180242925	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs75808987	chr5:180242971-180242972	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs368726236	chr5:180242976-180242977	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs565396693	chr5:180242999-180243000	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs375180356	chr5:180243006-180243007	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs189206688	chr5:180243031-180243032	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs139483693	chr5:180243032-180243033	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs571553429	chr5:180243040-180243041	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs536963235	chr5:180243094-180243095	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs181557648	chr5:180243103-180243104	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs567669648	chr5:180243109-180243110	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs145021563	chr5:180243115-180243116	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs62407794	chr5:180243153-180243154	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs669395	chr5:180243227-180243228	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs140887503	chr5:180243243-180243244	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs539246519	chr5:180243244-180243245	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs558866965	chr5:180243248-180243249	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs540096115	chr5:180243261-180243262	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs544524755	chr5:180243262-180243263	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs185698476	chr5:180243267-180243268	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs573311295	chr5:180243293-180243294	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs542206210	chr5:180243301-180243302	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs583714	chr5:180243311-180243312	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs528158843	chr5:180243331-180243332	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs191581557	chr5:180243335-180243336	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs551423558	chr5:180243341-180243342	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs555914494	chr5:180243378-180243379	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs564955823	chr5:180243397-180243398	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs530686725	chr5:180243400-180243401	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs550905033	chr5:180243405-180243406	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs58657524	chr5:180243406-180243407	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs572423094	chr5:180243489-180243490	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs76625733	chr5:180243549-180243550	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs368681695	chr5:180243578-180243579	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs145575600	chr5:180243584-180243585	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs566850568	chr5:180243705-180243706	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs558979004	chr5:180243708-180243709	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs575751718	chr5:180243729-180243730	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs538007041	chr5:180243766-180243767	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs181259443	chr5:180243774-180243775	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs186197685	chr5:180243832-180243833	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs542250559	chr5:180243848-180243849	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs559103794	chr5:180243851-180243852	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs572770217	chr5:180243921-180243922	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs141581784	chr5:180244000-180244001	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs573802950	chr5:180244009-180244010	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs544782259	chr5:180244040-180244041	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs56371235	chr5:180244050-180244051	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs576959452	chr5:180244072-180244073	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:113)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Autism	22543975	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19812545	CNVD
Mental retardation	20877625	CNVD
Medulloblastoma	21163964	CNVD
Autism	21865298	CNVD
Pancreatic cancer	17952125	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:3193 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:180238200-180245000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:180238400-180243400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr5:180238400-180243600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr5:180238600-180243600	Weak transcription	NH-A	brain
5	chr5:180238600-180244000	Weak transcription	HSMMtube	muscle
6	chr5:180238600-180244000	Weak transcription	NHLF	lung
7	chr5:180238800-180243600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr5:180238800-180243600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:180238800-180243600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:180238800-180243800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:180238800-180243800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr5:180238800-180243800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:180238800-180243800	Weak transcription	NHDF-Ad	bronchial
14	chr5:180238800-180253200	Weak transcription	A549	lung
15	chr5:180239000-180243000	Active TSS	Right Atrium	heart
16	chr5:180239000-180243400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr5:180239000-180243600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:180239000-180243600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr5:180239000-180243600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr5:180239000-180243600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:180239000-180243600	Weak transcription	Fetal Stomach	stomach
22	chr5:180239000-180244000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr5:180239000-180244800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr5:180239000-180245400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr5:180239000-180247400	Weak transcription	Brain Substantia Nigra	brain
26	chr5:180239200-180243000	Weak transcription	Dnd41	blood
27	chr5:180239200-180243200	Weak transcription	Thymus	Thymus
28	chr5:180239200-180243400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:180239200-180243400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr5:180239200-180243400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr5:180239200-180243600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr5:180239200-180243600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr5:180239200-180243600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr5:180239200-180243600	Weak transcription	Fetal Intestine Large	intestine
35	chr5:180239200-180243600	Weak transcription	Stomach Mucosa	stomach
36	chr5:180239200-180244000	Weak transcription	Pancreas	Pancrea
37	chr5:180239200-180244600	Enhancers	K562	blood
38	chr5:180239200-180245000	Weak transcription	Colon Smooth Muscle	Colon
39	chr5:180239200-180247200	Weak transcription	Esophagus	oesophagus
40	chr5:180239400-180243600	Weak transcription	Fetal Lung	lung
41	chr5:180239600-180243600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr5:180240200-180243000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
43	chr5:180240400-180243600	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr5:180240600-180245800	Enhancers	Fetal Thymus	thymus
45	chr5:180240800-180243000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr5:180241000-180243000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr5:180241000-180243200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr5:180241400-180243800	Enhancers	Primary T cells fromperipheralblood	blood
49	chr5:180241400-180244200	Enhancers	Fetal Muscle Trunk	muscle
50	chr5:180241600-180243000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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