Variant report

Variant	esv3343361
Chromosome Location	chr5:180261371-180406569
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1453)
CpG islands
(count:2566)
Chromatin interactive
region (count:155)
LncRNA
region (count:28)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1453 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr5:180295130-180295721	GM12878	blood:	n/a	n/a
2	ATF2	chr5:180287523-180287977	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr5:180288318-180288726	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr5:180287641-180288731	GM12878	blood:	n/a	n/a
5	ATF3	chr5:180300916-180301148	K562	blood:	n/a	n/a
6	ATF3	chr5:180300831-180301293	K562	blood:	n/a	n/a
7	ATF3	chr5:180266949-180267264	K562	blood:	n/a	n/a
8	BATF	chr5:180300881-180301195	GM12878	blood:	n/a	n/a
9	BATF	chr5:180300882-180301218	GM12878	blood:	n/a	n/a
10	BATF	chr5:180295385-180295684	GM12878	blood:	n/a	n/a
11	BATF	chr5:180295359-180295616	GM12878	blood:	n/a	n/a
12	BATF	chr5:180336078-180336346	GM12878	blood:	n/a	n/a
13	BCL11A	chr5:180402385-180402643	GM12878	blood:	n/a	chr5:180402541-180402550
14	BCL3	chr5:180287597-180288561	A549	lung:	n/a	chr5:180288052-180288061 chr5:180287721-180287730
15	BCLAF1	chr5:180287393-180288777	GM12878	blood:	n/a	chr5:180288589-180288598 chr5:180288052-180288061 chr5:180287721-180287730
16	BCLAF1	chr5:180287997-180288590	K562	blood:	n/a	chr5:180288052-180288061
17	BCLAF1	chr5:180287607-180288667	GM12878	blood:	n/a	chr5:180288589-180288598 chr5:180288052-180288061 chr5:180287721-180287730
18	BCLAF1	chr5:180288001-180288500	K562	blood:	n/a	chr5:180288052-180288061
19	CBX3	chr5:180295820-180296390	K562	blood:	n/a	n/a
20	CBX3	chr5:180351911-180352108	K562	blood:	n/a	n/a
21	CBX3	chr5:180275961-180276367	K562	blood:	n/a	n/a
22	CBX3	chr5:180277464-180277788	K562	blood:	n/a	n/a
23	CBX3	chr5:180277408-180278141	HCT-116	colon:	n/a	n/a
24	CBX3	chr5:180300550-180301335	K562	blood:	n/a	n/a
25	CBX3	chr5:180287631-180288621	K562	blood:	n/a	n/a
26	CBX3	chr5:180312826-180313332	K562	blood:	n/a	n/a
27	CBX3	chr5:180365297-180365622	K562	blood:	n/a	n/a
28	CBX3	chr5:180300400-180301493	K562	blood:	n/a	n/a
29	CBX3	chr5:180365208-180365610	HCT-116	colon:	n/a	n/a
30	CBX3	chr5:180276855-180278276	K562	blood:	n/a	n/a
31	CEBPB	chr5:180336344-180336591	K562	blood:	n/a	n/a
32	CEBPB	chr5:180275206-180275626	MCF-7	breast:	n/a	n/a
33	CEBPB	chr5:180275309-180275621	MCF-7	breast:	n/a	n/a
34	CEBPB	chr5:180342869-180343258	MCF-7	breast:	n/a	n/a
35	CEBPB	chr5:180300813-180301574	K562	blood:	n/a	n/a
36	CEBPB	chr5:180300960-180301219	K562	blood:	n/a	n/a
37	CEBPD	chr5:180287915-180288448	HepG2	liver:	n/a	n/a
38	CREB1	chr5:180287950-180288640	A549	lung:	n/a	n/a
39	CREB1	chr5:180287552-180288698	HepG2	liver:	n/a	n/a
40	CREB1	chr5:180288123-180288402	A549	lung:	n/a	n/a
41	CREB1	chr5:180287478-180288760	GM12878	blood:	n/a	n/a
42	CREB1	chr5:180287381-180288825	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr5:180295671-180296494	A549	lung:	n/a	n/a
44	CTCF	chr5:180288035-180288051	GM19240	blood:	n/a	n/a
45	CTCF	chr5:180287640-180287790	HA-sp	spinal cord:	n/a	n/a
46	CTCF	chr5:180288180-180288330	HCFaa	heart:	n/a	n/a
47	CTCF	chr5:180288240-180288390	NHEK	skin:	n/a	n/a
48	CTCF	chr5:180296058-180296305	GM19240	blood:	n/a	n/a
49	CTCF	chr5:180287700-180287850	GM12873	blood:	n/a	n/a
50	CTCF	chr5:180288660-180288810	AG04449	skin:	n/a	n/a

(count:2566 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:180338435-180338485	AG04449	skin:	fetal
2	chr5:180325969-180326019	HUVEC	blood vessel:	n/a
3	chr5:180288554-180288604	HNPCEpiC	eye:	n/a
4	chr5:180276718-180276768	GM12892	blood:	n/a
5	chr5:180338435-180338485	AG04449	skin:	fetal
6	chr5:180325969-180326019	HUVEC	blood vessel:	n/a
7	chr5:180288554-180288604	HNPCEpiC	eye:	n/a
8	chr5:180276718-180276768	GM12892	blood:	n/a
9	chr5:180288995-180289045	PANC-1	pancreas:	n/a
10	chr5:180377617-180377667	NB4	blood:	n/a
11	chr5:180274871-180274921	HCF	heart:	n/a
12	chr5:180375511-180375561	HRPEpiC	eye:	n/a
13	chr5:180336487-180336537	U87	brain:	n/a
14	chr5:180295053-180295103	AG10803	skin:	n/a
15	chr5:180396076-180396126	HCPEpiC	choroid plexus:	n/a
16	chr5:180396891-180396941	HRCEpiC	kidney:	n/a
17	chr5:180397910-180397960	A549	lung:	n/a
18	chr5:180287825-180287875	LNCaP	prostate:	n/a
19	chr5:180396891-180396941	SAEC	small airway:	n/a
20	chr5:180286118-180286168	RPTEC	kidney:	n/a
21	chr5:180396687-180396737	HMEC	breast:	n/a
22	chr5:180326186-180326236	Jurkat	blood:	n/a
23	chr5:180295053-180295103	NHDF-neo	bronchial:	n/a
24	chr5:180397332-180397382	HRCEpiC	kidney:	n/a
25	chr5:180326186-180326236	HMEC	breast:	n/a
26	chr5:180326142-180326192	H1-hESC	embryonic stem cell:	embryo
27	chr5:180292677-180292727	HAEpiC	amniotic membrane:	n/a
28	chr5:180287559-180287609	MCF-7	breast:	n/a
29	chr5:180396687-180396737	HEEpiC	esophagus:	n/a
30	chr5:180397910-180397960	HL-60	blood:	n/a
31	chr5:180396076-180396126	GM19239	blood:	n/a
32	chr5:180287685-180287735	HCT-116	colon:	n/a
33	chr5:180396687-180396737	GM12891	blood:	n/a
34	chr5:180338435-180338485	U87	brain:	n/a
35	chr5:180396891-180396941	HepG2	liver:	n/a
36	chr5:180288995-180289045	NH-A	brain:	n/a
37	chr5:180325969-180326019	HRE	kidney:	n/a
38	chr5:180287559-180287609	HCPEpiC	choroid plexus:	n/a
39	chr5:180286094-180286144	AoSMC	blood vessel:	n/a
40	chr5:180324804-180324854	ProgFib	skin:	n/a
41	chr5:180397496-180397546	NB4	blood:	n/a
42	chr5:180287825-180287875	HAEpiC	amniotic membrane:	n/a
43	chr5:180396076-180396126	ProgFib	skin:	n/a
44	chr5:180287904-180287954	BJ	skin:	n/a
45	chr5:180286094-180286144	U87	brain:	n/a
46	chr5:180336487-180336537	MCF10A-Er-Src	breast:	n/a
47	chr5:180396076-180396126	PFSK-1	brain:	n/a
48	chr5:180326142-180326192	MCF-7	breast:	n/a
49	chr5:180286094-180286144	Jurkat	blood:	n/a
50	chr5:180276718-180276768	HCPEpiC	choroid plexus:	n/a

(count:155 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr5:180251998..180254373-chr5:180288462..180290052,2	MCF-7	breast:
2	chr5:180288754..180291107-chr5:180359607..180361510,2	K562	blood:
3	chr5:180256710..180258526-chr5:180275474..180278085,2	MCF-7	breast:
4	chr5:180296198..180297824-chr5:180477910..180480531,2	K562	blood:
5	chr5:180256399..180259891-chr5:180287425..180289762,3	K562	blood:
6	chr5:180293338..180295885-chr5:180297016..180299416,2	MCF-7	breast:
7	chr20:47893639..47896346-chr5:180271161..180272916,2	MCF-7	breast:
8	chr5:180235864..180238260-chr5:180278137..180284773,8	MCF-7	breast:
9	chr5:180267794..180270369-chr5:180276389..180279164,3	K562	blood:
10	chr5:180260120..180262465-chr5:180285542..180288192,2	MCF-7	breast:
11	chr5:180300564..180303174-chr5:180479013..180481556,3	K562	blood:
12	chr5:180264784..180266647-chr5:180275264..180277584,2	MCF-7	breast:
13	chr5:180265528..180270549-chr5:180272492..180276468,5	K562	blood:
14	chr5:180235508..180238459-chr5:180267237..180269270,2	K562	blood:
15	chr5:180255602..180258414-chr5:180276329..180278582,3	K562	blood:
16	chr5:180261765..180263546-chr5:180263773..180266273,2	K562	blood:
17	chr5:180292838..180295188-chr5:180479546..180481707,2	K562	blood:
18	chr5:180237463..180239792-chr5:180299138..180300756,2	K562	blood:
19	chr5:180228090..180233792-chr5:180285929..180290144,13	MCF-7	breast:
20	chr5:180236416..180238492-chr5:180291325..180292894,2	K562	blood:
21	chr5:180288158..180289757-chr5:180304045..180306092,2	K562	blood:
22	chr5:180262800..180265052-chr5:180289131..180291113,2	MCF-7	breast:
23	chr5:180294405..180296902-chr5:180647490..180650285,2	K562	blood:
24	chr5:180213340..180215269-chr5:180288720..180290898,2	K562	blood:
25	chr5:180294725..180296424-chr5:180534001..180536836,2	MCF-7	breast:
26	chr5:180365455..180367609-chr5:180368045..180370105,2	K562	blood:
27	chr5:180295710..180296339-chr5:180482283..180482883,2	MCF-7	breast:
28	chr5:180228593..180231103-chr5:180268102..180269916,2	MCF-7	breast:
29	chr5:180235272..180237066-chr5:180294976..180296796,2	K562	blood:
30	chr5:180296063..180296630-chr5:180471964..180472878,2	K562	blood:
31	chr5:180288412..180290670-chr5:180581214..180583191,2	MCF-7	breast:
32	chr5:180264302..180266196-chr5:180270901..180273309,2	MCF-7	breast:
33	chr5:180255602..180258511-chr5:180276329..180279939,4	K562	blood:
34	chr5:180228019..180233439-chr5:180285963..180289843,10	MCF-7	breast:
35	chr5:180266275..180269354-chr5:180269662..180271992,3	MCF-7	breast:
36	chr5:180260152..180261923-chr5:180263994..180266988,2	MCF-7	breast:
37	chr5:180262664..180264949-chr5:180267112..180269108,2	K562	blood:
38	chr5:180262664..180264949-chr5:180267112..180269108,2	K562	blood:
39	chr5:180258091..180260121-chr5:180265803..180269269,3	MCF-7	breast:
40	chr5:180299531..180301189-chr5:180314779..180317197,2	MCF-7	breast:
41	chr5:180260203..180262086-chr5:180324747..180326847,2	K562	blood:
42	chr5:180262800..180265052-chr5:180289131..180291113,2	MCF-7	breast:
43	chr5:180257317..180259652-chr5:180282182..180285146,2	MCF-7	breast:
44	chr5:180235718..180243084-chr5:180284888..180290652,13	K562	blood:
45	chr17:79825577..79828319-chr5:180288108..180290016,2	MCF-7	breast:
46	chr5:180248851..180251777-chr5:180263688..180265832,2	K562	blood:
47	chr5:180295519..180296628-chr5:180577771..180578836,5	MCF-7	breast:
48	chr5:180284217..180286788-chr5:180453751..180456336,2	K562	blood:
49	chr5:180336034..180338879-chr5:180339862..180342004,2	K562	blood:
50	chr5:180282533..180284772-chr5:180585031..180586550,2	MCF-7	breast:

(count:28 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BTNL8-3	chr5:180261312-180262726	ENSG00000245060
2	lnc-BTNL8-3	chr5:180261312-180261871	ENSG00000245060
3	lnc-ZFP62-2	chr5:180278988-180279060	NONHSAT105846
4	lnc-BTNL8-3	chr5:180261312-180262726	NR_027183
5	lnc-BTNL8-3	chr5:180261312-180262725	NONHSAT105836
6	lnc-BTNL8-3	chr5:180261312-180262725	NONHSAT105842
7	lnc-BTNL8-3	chr5:180261312-180262725	NONHSAT105840
8	lnc-ZFP62-1	chr5:180262054-180262712	XLOC_005111
9	lnc-BTNL3-3	chr5:180374512-180375353	NONHSAT105850
10	lnc-ZFP62-2	chr5:180274611-180275082	NONHSAT105846
11	lnc-BTNL3-3	chr5:180336573-180336697	NONHSAT105850
12	lnc-BTNL8-3	chr5:180261312-180262726	NR_045679
13	lnc-ZFP62-2	chr5:180288219-180288285	NONHSAT105846
14	lnc-ZFP62-2	chr5:180287528-180287684	NONHSAT105847
15	lnc-BTNL8-1	chr5:180297962-180298361	XLOC_004685
16	lnc-ZFP62-2	chr5:180278381-180278493	NONHSAT105846
17	lnc-ZFP62-1	chr5:180261303-180261596	XLOC_005111
18	lnc-BTNL8-3	chr5:180261312-180262726	ENSG00000245060
19	lnc-BTNL8-1	chr5:180296862-180296969	XLOC_004685
20	lnc-BTNL8-3	chr5:180261312-180262725	NONHSAT105839
21	lnc-ZFP62-2	chr5:180278381-180278493	NONHSAT105847
22	lnc-BTNL8-3	chr5:180261312-180262725	NONHSAT105837
23	lnc-ZFP62-2	chr5:180274611-180275082	NONHSAT105847
24	lnc-BTNL8-4	chr5:180394848-180395567	NONHSAT105854
25	lnc-BTNL8-3	chr5:180261312-180261779	ENSG00000245060
26	lnc-BTNL8-3	chr5:180261312-180262725	NONHSAT105841
27	lnc-BTNL3-3	chr5:180338339-180338614	NONHSAT105850
28	lnc-BTNL8-3	chr5:180261312-180262725	NONHSAT105838

No data

Variant related genes	Relation type
BTNL8	TF binding region
ENSG00000222852	TF binding region
ENSG00000231228	TF binding region
ENSG00000248761	TF binding region
ZFP62	TF binding region
ENSG00000249287	TF binding region
RPS29P12	TF binding region
BTNL8	CpG island
ENSG00000222852	CpG island
ENSG00000231228	CpG island
ENSG00000248761	CpG island
ZFP62	CpG island
ENSG00000249287	CpG island
RPS29P12	CpG island
ENSG00000199004	chromatin interactions
ENSG00000214295	chromatin interactions
ENSG00000177410	chromatin interactions
ENSG00000225721	chromatin interactions
ENSG00000182613	chromatin interactions
ENSG00000183718	chromatin interactions
ENSG00000248514	chromatin interactions
ENSG00000262413	chromatin interactions
ENSG00000245060	chromatin interactions
ENSG00000264732	chromatin interactions
ENSG00000170421	chromatin interactions
ENSG00000131446	chromatin interactions
ENSG00000113303	chromatin interactions
ENSG00000123358	chromatin interactions
ENSG00000204628	chromatin interactions
ENSG00000222852	chromatin interactions
ENSG00000124201	chromatin interactions
ENSG00000142937	chromatin interactions
ENSG00000206686	chromatin interactions
ENSG00000260841	chromatin interactions
ENSG00000165810	chromatin interactions
ENSG00000146054	chromatin interactions
ENSG00000209042	chromatin interactions
ENSG00000264549	chromatin interactions
ENSG00000272296	chromatin interactions
ENSG00000248275	chromatin interactions
ENSG00000196670	chromatin interactions
ENSG00000243664	chromatin interactions
ENSG00000146063	chromatin interactions
ENSG00000141522	chromatin interactions
WTAP	miRNA target sites
ZNF785	miRNA target sites
NIN	miRNA target sites
IL1B	miRNA target sites
HEBP2	miRNA target sites
CLINT1	miRNA target sites

Extended variants
information (count: 5074 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:5074 , 50 per page) page: 1 2 3 4 5 6 7 ... 102

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569167009	chr5:180261391-180261392	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
2	rs554547849	chr5:180261408-180261409	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
3	rs370777184	chr5:180261441-180261442	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
4	rs373387665	chr5:180261452-180261453	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
5	rs570863430	chr5:180261464-180261465	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
6	rs149358377	chr5:180261469-180261470	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
7	rs574451886	chr5:180261471-180261472	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
8	rs146834150	chr5:180261492-180261493	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
9	rs534809597	chr5:180261506-180261507	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
10	rs540368352	chr5:180261582-180261583	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
11	rs546248193	chr5:180261646-180261647	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
12	rs373810305	chr5:180261648-180261649	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
13	rs559816799	chr5:180261680-180261681	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
14	rs560213226	chr5:180261704-180261705	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
15	rs537340885	chr5:180261752-180261753	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
16	rs546066935	chr5:180261763-180261764	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
17	rs563066335	chr5:180261796-180261797	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
18	rs531913514	chr5:180261911-180261912	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
19	rs61632263	chr5:180261938-180261939	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
20	rs532036743	chr5:180261977-180261978	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
21	rs548858285	chr5:180262011-180262012	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
22	rs183201515	chr5:180262076-180262077	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
23	rs140905005	chr5:180262186-180262187	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
24	rs551854038	chr5:180262195-180262196	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
25	rs573579339	chr5:180262241-180262242	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
26	rs546745811	chr5:180262253-180262254	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
27	rs566556956	chr5:180262365-180262366	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
28	rs11541202	chr5:180262407-180262408	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs552107885	chr5:180262417-180262418	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
30	rs568986946	chr5:180262428-180262429	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
31	rs537761103	chr5:180262454-180262455	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
32	rs187841331	chr5:180262457-180262458	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
33	rs574539787	chr5:180262543-180262544	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs3209139	chr5:180262550-180262551	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs543834608	chr5:180262588-180262589	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
36	rs15861	chr5:180262591-180262592	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs1054872	chr5:180262617-180262618	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
38	rs572512061	chr5:180262665-180262666	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
39	rs376189226	chr5:180262666-180262667	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
40	rs546252797	chr5:180262667-180262668	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
41	rs138085295	chr5:180262724-180262725	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
42	rs557019023	chr5:180262731-180262732	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs183465494	chr5:180262814-180262815	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs542588072	chr5:180262832-180262833	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs556837686	chr5:180262835-180262836	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs562343861	chr5:180262894-180262895	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs367877148	chr5:180262911-180262912	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs143690318	chr5:180262944-180262945	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs561873467	chr5:180262990-180262991	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs546632227	chr5:180262993-180262994	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 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:1862 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:180259000-180264400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:180259000-180272600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:180259400-180261400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:180259400-180261400	Weak transcription	Aorta	Aorta
5	chr5:180259400-180261600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:180259400-180261600	Weak transcription	Fetal Intestine Large	intestine
7	chr5:180259400-180261600	Weak transcription	Ovary	ovary
8	chr5:180259400-180262200	Weak transcription	HSMMtube	muscle
9	chr5:180259400-180263600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr5:180259400-180271400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr5:180259400-180273600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:180259600-180261400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr5:180259600-180262000	Weak transcription	HSMM	muscle
14	chr5:180259600-180264600	Weak transcription	HMEC	breast
15	chr5:180259600-180272400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:180259600-180272600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:180259800-180262000	Weak transcription	Fetal Brain Female	brain
18	chr5:180259800-180262000	Weak transcription	Fetal Lung	lung
19	chr5:180259800-180276800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr5:180260000-180261400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:180260000-180261400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr5:180260000-180261400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:180260000-180261400	Weak transcription	Esophagus	oesophagus
24	chr5:180260000-180261400	Weak transcription	Fetal Stomach	stomach
25	chr5:180260000-180261400	Weak transcription	Gastric	stomach
26	chr5:180260000-180261400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr5:180260000-180261600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:180260000-180261600	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr5:180260000-180261600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr5:180260000-180261600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr5:180260000-180261600	Weak transcription	Right Ventricle	heart
32	chr5:180260000-180261600	Weak transcription	A549	lung
33	chr5:180260000-180261600	Weak transcription	Osteobl	bone
34	chr5:180260000-180261800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr5:180260000-180261800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr5:180260000-180261800	Weak transcription	Brain Angular Gyrus	brain
37	chr5:180260000-180261800	Weak transcription	NHLF	lung
38	chr5:180260000-180262000	Weak transcription	Pancreas	Pancrea
39	chr5:180260000-180264000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr5:180260000-180268800	Weak transcription	Brain Germinal Matrix	brain
41	chr5:180260000-180271400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr5:180260000-180273200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr5:180260000-180273800	Weak transcription	Fetal Kidney	kidney
44	chr5:180260000-180274400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr5:180260000-180274400	Weak transcription	NHDF-Ad	bronchial
46	chr5:180260000-180276200	Weak transcription	Stomach Mucosa	stomach
47	chr5:180260200-180261400	Enhancers	Primary T cells from cord blood	blood
48	chr5:180260200-180261400	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr5:180260200-180261400	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr5:180260200-180261400	Weak transcription	Brain Hippocampus Middle	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links