Variant report

Variant	esv2758033
Chromosome Location	chr5:180087198-180281476
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3541)
CpG islands
(count:5068)
Chromatin interactive
region (count:217)
LncRNA
region (count:107)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3541 , 50 per page) page: 1 2 3 4 5 6 7 ... 71

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr5:180230642-180231278	GM12878	blood:	n/a	n/a
2	ATF2	chr5:180230701-180231257	GM12878	blood:	n/a	n/a
3	ATF2	chr5:180212679-180213244	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr5:180257642-180258201	GM12878	blood:	n/a	n/a
5	ATF2	chr5:180237161-180237598	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr5:180241124-180241744	GM12878	blood:	n/a	n/a
7	ATF2	chr5:180236745-180237952	GM12878	blood:	n/a	n/a
8	ATF2	chr5:180247668-180248301	GM12878	blood:	n/a	chr5:180248216-180248227
9	ATF2	chr5:180232067-180232523	GM12878	blood:	n/a	n/a
10	ATF2	chr5:180258377-180258920	GM12878	blood:	n/a	n/a
11	ATF2	chr5:180259450-180260089	GM12878	blood:	n/a	n/a
12	ATF2	chr5:180144959-180145359	GM12878	blood:	n/a	n/a
13	ATF2	chr5:180257705-180258044	GM12878	blood:	n/a	n/a
14	ATF2	chr5:180237110-180237633	GM12878	blood:	n/a	n/a
15	ATF2	chr5:180212570-180213141	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF3	chr5:180258535-180258898	A549	lung:	n/a	n/a
17	ATF3	chr5:180237170-180237691	A549	lung:	n/a	n/a
18	ATF3	chr5:180266949-180267264	K562	blood:	n/a	n/a
19	BATF	chr5:180169789-180169977	GM12878	blood:	n/a	n/a
20	BATF	chr5:180145040-180145312	GM12878	blood:	n/a	chr5:180145207-180145218
21	BATF	chr5:180097198-180097443	GM12878	blood:	n/a	n/a
22	BATF	chr5:180145061-180145379	GM12878	blood:	n/a	chr5:180145207-180145218
23	BCL11A	chr5:180230806-180231108	GM12878	blood:	n/a	n/a
24	BCL11A	chr5:180145100-180145299	GM12878	blood:	n/a	chr5:180145235-180145244
25	BCL11A	chr5:180230781-180231384	GM12878	blood:	n/a	n/a
26	BCL11A	chr5:180232158-180232406	GM12878	blood:	n/a	chr5:180232331-180232340 chr5:180232312-180232321
27	BCL11A	chr5:180232123-180232507	GM12878	blood:	n/a	chr5:180232331-180232340 chr5:180232312-180232321
28	BCL11A	chr5:180145000-180145348	GM12878	blood:	n/a	chr5:180145235-180145244
29	BCL3	chr5:180237078-180237785	A549	lung:	n/a	n/a
30	BCL3	chr5:180097085-180097491	GM12878	blood:	n/a	n/a
31	BCL3	chr5:180236674-180237936	A549	lung:	n/a	n/a
32	BCL3	chr5:180229004-180229979	A549	lung:	n/a	chr5:180229768-180229781
33	BCL3	chr5:180257765-180258237	A549	lung:	n/a	n/a
34	BCL3	chr5:180258428-180259048	A549	lung:	n/a	n/a
35	BCL3	chr5:180229192-180229773	A549	lung:	n/a	n/a
36	BCL3	chr5:180258428-180258981	A549	lung:	n/a	n/a
37	BCLAF1	chr5:180259390-180260221	GM12878	blood:	n/a	chr5:180259952-180259965 chr5:180259629-180259638
38	BCLAF1	chr5:180237147-180238092	GM12878	blood:	n/a	n/a
39	BCLAF1	chr5:180237131-180238121	GM12878	blood:	n/a	n/a
40	BCLAF1	chr5:180241139-180241759	GM12878	blood:	n/a	n/a
41	BCLAF1	chr5:180230612-180231315	GM12878	blood:	n/a	n/a
42	BCLAF1	chr5:180257793-180258873	GM12878	blood:	n/a	n/a
43	BCLAF1	chr5:180230677-180231223	GM12878	blood:	n/a	n/a
44	BCLAF1	chr5:180236822-180237095	GM12878	blood:	n/a	n/a
45	BCLAF1	chr5:180231999-180232495	GM12878	blood:	n/a	chr5:180232331-180232340 chr5:180232312-180232321
46	BCLAF1	chr5:180232063-180232608	GM12878	blood:	n/a	chr5:180232331-180232340 chr5:180232312-180232321
47	BCLAF1	chr5:180229465-180229929	GM12878	blood:	n/a	chr5:180229768-180229781
48	BCLAF1	chr5:180257580-180258891	GM12878	blood:	n/a	n/a
49	CBX3	chr5:180253096-180253684	HCT-116	colon:	n/a	n/a
50	CBX3	chr5:180127492-180127736	K562	blood:	n/a	n/a

(count:5068 , 50 per page) page: 1 2 3 4 5 6 7 ... 102

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:180230113-180230163	CMK	blood:	n/a
2	chr5:180256930-180256980	HPAEpiC	pulmonary alveolar:	n/a
3	chr5:180238795-180238845	Caco-2	colon:	n/a
4	chr5:180217700-180217750	HCPEpiC	choroid plexus:	n/a
5	chr5:180229544-180229594	HEEpiC	esophagus:	n/a
6	chr5:180230113-180230163	CMK	blood:	n/a
7	chr5:180256930-180256980	HPAEpiC	pulmonary alveolar:	n/a
8	chr5:180238795-180238845	Caco-2	colon:	n/a
9	chr5:180217700-180217750	HCPEpiC	choroid plexus:	n/a
10	chr5:180229544-180229594	HEEpiC	esophagus:	n/a
11	chr5:180116385-180116435	HPAEpiC	pulmonary alveolar:	n/a
12	chr5:180230146-180230196	SKMC	muscle:	n/a
13	chr5:180252309-180252359	HUVEC	blood vessel:	n/a
14	chr5:180213189-180213239	PrEC	prostate:	n/a
15	chr5:180258557-180258607	AG04449	skin:	fetal
16	chr5:180166492-180166542	HNPCEpiC	eye:	n/a
17	chr5:180229164-180229214	AG04450	lung:	fetal
18	chr5:180240653-180240703	HRCEpiC	kidney:	n/a
19	chr5:180230130-180230180	AG04449	skin:	fetal
20	chr5:180101143-180101193	BE2_C	brain:	n/a
21	chr5:180237008-180237058	ECC-1	luminal epithelium:	n/a
22	chr5:180220005-180220055	HEK293	kidney:	embryo
23	chr5:180113361-180113411	NB4	blood:	n/a
24	chr5:180238208-180238258	BJ	skin:	n/a
25	chr5:180238010-180238060	AG09319	gingival:	n/a
26	chr5:180235800-180235850	CMK	blood:	n/a
27	chr5:180257795-180257845	NT2-D1	testis:	n/a
28	chr5:180113357-180113407	HRE	kidney:	n/a
29	chr5:180230146-180230196	SK-N-SH_RA	brain:	n/a
30	chr5:180112929-180112979	HNPCEpiC	eye:	n/a
31	chr5:180229753-180229803	PANC-1	pancreas:	n/a
32	chr5:180230959-180231009	SKMC	muscle:	n/a
33	chr5:180238795-180238845	HAEpiC	amniotic membrane:	n/a
34	chr5:180258557-180258607	ECC-1	luminal epithelium:	n/a
35	chr5:180276718-180276768	LNCaP	prostate:	n/a
36	chr5:180218509-180218559	HAEpiC	amniotic membrane:	n/a
37	chr5:180103241-180103291	LNCaP	prostate:	n/a
38	chr5:180111966-180112016	HepG2	liver:	n/a
39	chr5:180258852-180258902	NT2-D1	testis:	n/a
40	chr5:180258852-180258902	HCM	heart:	n/a
41	chr5:180230113-180230163	RPTEC	kidney:	n/a
42	chr5:180112929-180112979	HMEC	breast:	n/a
43	chr5:180167724-180167774	IMR90	lung:	fetal
44	chr5:180237085-180237135	HRPEpiC	eye:	n/a
45	chr5:180256930-180256980	AG09319	gingival:	n/a
46	chr5:180112929-180112979	AoSMC	blood vessel:	n/a
47	chr5:180231194-180231244	AoSMC	blood vessel:	n/a
48	chr5:180219008-180219058	ProgFib	skin:	n/a
49	chr5:180256930-180256980	MCF-7	breast:	n/a
50	chr5:180218509-180218559	SAEC	small airway:	n/a

(count:217 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr5:180219008..180221127-chr5:180221660..180224233,2	MCF-7	breast:
2	chr5:180262394..180264164-chr5:180266350..180269420,3	K562	blood:
3	chr5:180268107..180270885-chr5:180273192..180275547,2	MCF-7	breast:
4	chr5:180251998..180254373-chr5:180288462..180290052,2	MCF-7	breast:
5	chr5:180168086..180169925-chr5:180190599..180192805,2	K562	blood:
6	chr5:179553744..179554692-chr5:180097393..180098230,2	MCF-7	breast:
7	chr5:180171538..180174150-chr5:180179388..180180987,2	K562	blood:
8	chr5:180236822..180238933-chr5:180649093..180651031,2	MCF-7	breast:
9	chr5:180136617..180138276-chr5:180153652..180155749,2	K562	blood:
10	chr5:180247995..180251777-chr5:180263221..180266186,4	K562	blood:
11	chr5:180236324..180238724-chr6:44214143..44216444,2	MCF-7	breast:
12	chr5:180255616..180259441-chr5:180261236..180265313,7	MCF-7	breast:
13	chr5:180076787..180079357-chr5:180092252..180095157,2	K562	blood:
14	chr5:180236869..180238700-chr5:180478692..180481089,2	MCF-7	breast:
15	chr5:180264886..180266975-chr5:180282488..180284131,2	K562	blood:
16	chr5:180235755..180238174-chr5:180477599..180480033,2	MCF-7	breast:
17	chr5:180227376..180231453-chr5:180286019..180289801,4	K562	blood:
18	chr5:180154735..180156600-chr5:180159240..180161653,2	MCF-7	breast:
19	chr5:180260759..180263292-chr5:180278934..180280506,2	K562	blood:
20	chr5:180261765..180263546-chr5:180263773..180266273,2	K562	blood:
21	chr2:9695778..9696324-chr5:180236830..180237498,2	Hela-S3	cervix:
22	chr5:180268107..180270885-chr5:180273192..180275547,2	MCF-7	breast:
23	chr5:180022631..180025317-chr5:180096101..180098291,2	MCF-7	breast:
24	chr5:180276937..180279387-chr5:180687663..180690580,3	MCF-7	breast:
25	chr5:180228762..180230384-chr5:180272938..180275384,2	MCF-7	breast:
26	chr5:180217057..180217623-chr5:180228458..180229188,2	MCF-7	breast:
27	chr5:180260120..180262465-chr5:180285542..180288192,2	MCF-7	breast:
28	chr5:180236072..180238455-chr5:180650563..180652075,2	K562	blood:
29	chr5:180253850..180256839-chr5:180278245..180279769,2	MCF-7	breast:
30	chr5:180240270..180241199-chr5:180250010..180250973,3	MCF-7	breast:
31	chr5:180255602..180258511-chr5:180276329..180279939,4	K562	blood:
32	chr5:180235621..180237447-chr5:180275097..180276820,2	K562	blood:
33	chr5:180235829..180239179-chr5:180240712..180247762,18	K562	blood:
34	chr5:180247524..180249478-chr5:180249893..180253077,3	MCF-7	breast:
35	chr5:180235524..180237646-chr5:180274342..180276820,3	K562	blood:
36	chr5:180256272..180261271-chr5:180284313..180290761,15	MCF-7	breast:
37	chr5:180260907..180268562-chr5:180284401..180289844,9	K562	blood:
38	chr11:67396772..67397765-chr5:180236385..180237144,2	Hela-S3	cervix:
39	chr5:180248851..180251777-chr5:180263688..180265832,2	K562	blood:
40	chr5:180262664..180264949-chr5:180267112..180269108,2	K562	blood:
41	chr5:180037911..180038640-chr5:180145288..180145999,2	MCF-7	breast:
42	chr5:180259894..180262613-chr5:180275372..180277876,2	MCF-7	breast:
43	chr5:180221672..180224385-chr5:180256701..180259508,2	K562	blood:
44	chr5:141302965..141303777-chr5:180228742..180229546,2	Hela-S3	cervix:
45	chr5:180222666..180225025-chr5:180609526..180611478,2	K562	blood:
46	chr5:180262394..180264164-chr5:180266350..180269420,3	K562	blood:
47	chr5:180168086..180169925-chr5:180190599..180192805,2	K562	blood:
48	chr17:79824227..79826340-chr5:180238433..180240406,2	MCF-7	breast:
49	chr5:180208930..180211085-chr5:180226767..180229407,2	K562	blood:
50	chr5:180235621..180237447-chr5:180275097..180276820,2	K562	blood:

(count:107 , 50 per page) page: 1 2 3

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BTNL8-3	chr5:180256959-180258229	NONHSAT105839
2	lnc-ZFP62-2	chr5:180278381-180278493	NONHSAT105847
3	lnc-ZFP62-3	chr5:180235841-180236076	NONHSAT105816
4	lnc-BTNL8-6	chr5:180237297-180238375	NONHSAT105819
5	lnc-ZFP62-3	chr5:180235844-180236076	NONHSAT105817
6	lnc-BTNL8-8	chr5:180193918-180195284	ucscGeneNc_uc003mmk_2
7	lnc-BTNL8-3	chr5:180257957-180258229	NR_027183
8	lnc-MGAT1-2	chr5:180253880-180254267	XLOC_005110
9	lnc-ZFP62-2	chr5:180274611-180275082	NONHSAT105847
10	lnc-CNOT6-3	chr5:180112649-180113546	XLOC_004682
11	lnc-ZFP62-3	chr5:180235526-180235594	NONHSAT105811
12	lnc-BTNL8-3	chr5:180261312-180262725	NONHSAT105839
13	lnc-BTNL8-7	chr5:180229468-180229575	l_3082_chr5:180229467-180230967_thyroid
14	lnc-ZFP62-3	chr5:180235838-180236076	NONHSAT105813
15	lnc-MGAT1-2	chr5:180255314-180255379	XLOC_005110
16	lnc-BTNL8-3	chr5:180261312-180262725	NONHSAT105836
17	lnc-BTNL8-3	chr5:180256959-180258229	NONHSAT105838
18	lnc-MGAT1-2	chr5:180256956-180257430	ENSG00000249705
19	lnc-ZFP62-3	chr5:180237729-180237938	NONHSAT105815
20	lnc-BTNL8-3	chr5:180258736-180258971	NONHSAT105843
21	lnc-OR2Y1-1	chr5:180155280-180155484	expReg_chr5_11028_-
22	lnc-ZFP62-3	chr5:180222406-180222875	NONHSAT105809
23	lnc-ZFP62-3	chr5:180235839-180236066	NONHSAT105814
24	lnc-OR2Y1-2	chr5:180189565-180191201	ucscGeneNc_uc003mmj_1
25	lnc-BTNL8-3	chr5:180256969-180258229	NONHSAT105843
26	lnc-ZFP62-3	chr5:180236364-180236875	NONHSAT105817
27	lnc-BTNL8-3	chr5:180258736-180258806	NONHSAT105839
28	lnc-MGAT1-2	chr5:180253932-180254267	XLOC_005110
29	lnc-ZFP62-3	chr5:180229680-180229767	NONHSAT105810
30	lnc-BTNL8-3	chr5:180258736-180258941	NONHSAT105838
31	lnc-MGAT1-2	chr5:180253871-180254267	XLOC_005110
32	lnc-BTNL8-3	chr5:180261312-180262726	ENSG00000245060
33	lnc-MGAT1-2	chr5:180253864-180254267	XLOC_005110
34	lnc-BTNL8-3	chr5:180258759-180258941	NONHSAT105842
35	lnc-MGAT1-2	chr5:180257672-180258618	ENSG00000249705
36	lnc-MGAT1-2	chr5:180256937-180257406	XLOC_005110
37	lnc-MGAT1-2	chr5:180256956-180257429	NONHSAT105835
38	lnc-BTNL8-3	chr5:180261312-180262725	NONHSAT105841
39	lnc-CNOT6-3	chr5:180112648-180113546	NONHSAT105706
40	lnc-BTNL8-3	chr5:180256959-180258229	NONHSAT105836
41	lnc-BTNL8-3	chr5:180261312-180262726	NR_027183
42	lnc-ZFP62-3	chr5:180236014-180236076	NONHSAT105818
43	lnc-MGAT1-2	chr5:180257671-180258618	NONHSAT105835
44	lnc-BTNL8-3	chr5:180257957-180258229	ENSG00000245060
45	lnc-ZFP62-1	chr5:180262054-180262712	XLOC_005111
46	lnc-BTNL8-3	chr5:180261312-180262725	NONHSAT105837
47	lnc-BTNL8-3	chr5:180259673-180259860	NR_045679
48	lnc-BTNL8-5	chr5:180250102-180250965	NONHSAT105820
49	lnc-CNOT6-3	chr5:180111766-180111906	XLOC_004682
50	lnc-ZFP62-3	chr5:180237432-180237505	NONHSAT105813

No data

Variant related genes	Relation type
ZFP62	TF binding region
RNU1-17P	TF binding region
ENSG00000260841	TF binding region
ENSG00000248717	TF binding region
OR2Y1	TF binding region
LINC00847	TF binding region
OR2AI1P	TF binding region
MGAT1	TF binding region
ENSG00000251352	TF binding region
ZFP62	CpG island
RNU1-17P	CpG island
ENSG00000260841	CpG island
ENSG00000248717	CpG island
OR2Y1	CpG island
LINC00847	CpG island
OR2AI1P	CpG island
MGAT1	CpG island
ENSG00000251352	CpG island
ENSG00000204628	chromatin interactions
ENSG00000264732	chromatin interactions
ENSG00000146054	chromatin interactions
ENSG00000131446	chromatin interactions
ENSG00000163635	chromatin interactions
ENSG00000206686	chromatin interactions
ENSG00000268397	chromatin interactions
ENSG00000145592	chromatin interactions
ENSG00000113303	chromatin interactions
ENSG00000196670	chromatin interactions
ENSG00000065883	chromatin interactions
ENSG00000214295	chromatin interactions
ENSG00000050748	chromatin interactions
ENSG00000124201	chromatin interactions
ENSG00000157326	chromatin interactions
ENSG00000215256	chromatin interactions
ENSG00000177410	chromatin interactions
ENSG00000248514	chromatin interactions
ENSG00000081791	chromatin interactions
ENSG00000200156	chromatin interactions
ENSG00000271855	chromatin interactions
ENSG00000165810	chromatin interactions
ENSG00000185033	chromatin interactions
ENSG00000163634	chromatin interactions
ENSG00000199892	chromatin interactions
ENSG00000236791	chromatin interactions
ENSG00000233937	chromatin interactions
ENSG00000096384	chromatin interactions
ENSG00000199004	chromatin interactions
ENSG00000151694	chromatin interactions
ENSG00000259826	chromatin interactions
ENSG00000159110	chromatin interactions
ENSG00000250900	chromatin interactions
ENSG00000248275	chromatin interactions
ENSG00000209042	chromatin interactions
ENSG00000114209	chromatin interactions
ENSG00000264549	chromatin interactions
ENSG00000248367	chromatin interactions
ENSG00000183718	chromatin interactions
ENSG00000245060	chromatin interactions
ENSG00000037280	chromatin interactions
ENSG00000167799	chromatin interactions
ENSG00000262413	chromatin interactions
ENSG00000260841	chromatin interactions
ENSG00000146063	chromatin interactions
CHD9	miRNA target sites
CCNJ	miRNA target sites
NIN	miRNA target sites
SHOC2	miRNA target sites
IL1B	miRNA target sites
SOS2	miRNA target sites
RNF141	miRNA target sites
BTG2	miRNA target sites
CCDC76	miRNA target sites
ASCC3	miRNA target sites
TGFB2	miRNA target sites
DMXL1	miRNA target sites
RNF144A	miRNA target sites
CDC34	miRNA target sites
SOCS5	miRNA target sites
CLINT1	miRNA target sites
ZNF785	miRNA target sites

Extended variants
information (count: 6431 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:6431 , 50 per page) page: 1 2 3 4 5 6 7 ... 129

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375758675	chr5:180087201-180087202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558419325	chr5:180087206-180087207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs60501724	chr5:180087228-180087229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552242254	chr5:180087256-180087257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568854018	chr5:180087298-180087299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568542341	chr5:180087303-180087304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191699867	chr5:180087314-180087315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549455512	chr5:180087352-180087353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183842257	chr5:180087385-180087386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531459798	chr5:180087395-180087396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189326198	chr5:180087422-180087423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558277672	chr5:180087452-180087453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575236628	chr5:180087459-180087460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146202301	chr5:180087460-180087461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111697433	chr5:180087466-180087467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554273917	chr5:180087561-180087562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371125004	chr5:180087582-180087583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs57094215	chr5:180087586-180087587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192704425	chr5:180087591-180087592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540055507	chr5:180087592-180087593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185653464	chr5:180087600-180087601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546981985	chr5:180087808-180087809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546116396	chr5:180087828-180087829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548276535	chr5:180087871-180087872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190563144	chr5:180087872-180087873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531757015	chr5:180087881-180087882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548270934	chr5:180087934-180087935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562177298	chr5:180087956-180087957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527757602	chr5:180087969-180087970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548012403	chr5:180088017-180088018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139118660	chr5:180088024-180088025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539629130	chr5:180088033-180088034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550476989	chr5:180088084-180088085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181818720	chr5:180088088-180088089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368403685	chr5:180088097-180088098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537886636	chr5:180088126-180088127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186177797	chr5:180088136-180088137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574195003	chr5:180088149-180088150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs80284882	chr5:180088225-180088226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571100594	chr5:180088251-180088252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553562859	chr5:180088269-180088270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112553341	chr5:180088319-180088320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150591590	chr5:180088351-180088352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562844338	chr5:180088352-180088353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576218466	chr5:180088353-180088354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542248245	chr5:180088519-180088520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562035483	chr5:180088547-180088548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs367949192	chr5:180088620-180088621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539732223	chr5:180088696-180088697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75798701	chr5:180088697-180088698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

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	17122850	CNVD
Schizophrenia	23813976	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Cancer	17440070	CNVD
Schizophrenia	21346763	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:5214 , 50 per page) page: 1 2 3 4 5 6 7 ... 105

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:180086200-180100400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:180086600-180091800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:180091000-180091800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:180091800-180092000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:180091800-180092000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:180092000-180095800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:180092000-180097200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:180092600-180092800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr5:180092800-180093200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr5:180092800-180095400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr5:180093200-180095600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr5:180093600-180094000	Enhancers	K562	blood
13	chr5:180094000-180095600	Weak transcription	K562	blood
14	chr5:180095400-180095800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr5:180095400-180096000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr5:180095400-180096400	Bivalent Enhancer	HepG2	liver
17	chr5:180095600-180095800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr5:180095600-180097800	Enhancers	K562	blood
19	chr5:180095800-180096200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr5:180095800-180096200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr5:180096000-180096800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr5:180096000-180097200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:180096000-180097400	Enhancers	Brain Cingulate Gyrus	brain
24	chr5:180096000-180097400	Enhancers	Brain Hippocampus Middle	brain
25	chr5:180096000-180097400	Enhancers	Brain Substantia Nigra	brain
26	chr5:180096200-180097400	Enhancers	Brain Angular Gyrus	brain
27	chr5:180096200-180097800	Enhancers	HSMM	muscle
28	chr5:180096200-180097800	Enhancers	HSMMtube	muscle
29	chr5:180096400-180096800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr5:180096400-180097600	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr5:180096400-180097600	Enhancers	HepG2	liver
32	chr5:180096600-180097400	Enhancers	Fetal Heart	heart
33	chr5:180096600-180097600	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr5:180096600-180097800	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr5:180096600-180097800	Enhancers	Fetal Muscle Leg	muscle
36	chr5:180096600-180098000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr5:180096800-180097400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr5:180096800-180097400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr5:180096800-180097600	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr5:180096800-180097600	Enhancers	Dnd41	blood
41	chr5:180096800-180097800	Enhancers	Primary hematopoietic stem cells	blood
42	chr5:180096800-180097800	Enhancers	Brain Anterior Caudate	brain
43	chr5:180096800-180097800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
44	chr5:180096800-180099000	Enhancers	Fetal Thymus	thymus
45	chr5:180097000-180097200	Bivalent Enhancer	Fetal Brain Male	brain
46	chr5:180097000-180097600	Enhancers	Primary T cells from cord blood	blood
47	chr5:180097000-180097800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr5:180097000-180097800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr5:180097000-180098000	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr5:180097200-180097400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links