Variant report

Variant	rs17083896
Chromosome Location	chr5:94011244-94011245
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr5:94010328-94011320	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr5:94010375-94011255	SK-N-SH	brain:	n/a	n/a
3	NFIC	chr5:94010354-94011269	SK-N-SH	brain:	n/a	chr5:94010898-94010915 chr5:94010899-94010915

Variant related genes	Relation type
ANKRD32	TF binding region

Extended variants
information (count: 133 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:128)

rs_ID	r²[population]
rs1006626	0.91[ASN][1000 genomes]
rs1006627	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1026232	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1031389	0.90[CHB][hapmap]
rs11135406	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11135407	1.00[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs11135408	0.87[ASN][1000 genomes]
rs11135409	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11135410	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1124668	1.00[CHB][hapmap];0.80[JPT][hapmap];0.90[ASN][1000 genomes]
rs12514098	1.00[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap];0.93[YRI][hapmap];0.80[AFR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12515845	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs12517059	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12519472	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.80[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12521289	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12523457	1.00[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs12651956	0.81[ASN][1000 genomes]
rs12652705	0.85[ASN][1000 genomes]
rs12653116	0.82[ASN][1000 genomes]
rs12653594	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12653819	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12654602	0.88[ASN][1000 genomes]
rs12655521	1.00[CHB][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs12655665	1.00[CHB][hapmap];0.80[YRI][hapmap];0.89[ASN][1000 genomes]
rs12655669	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12656300	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs12656694	0.88[ASN][1000 genomes]
rs12657227	0.89[ASN][1000 genomes]
rs12657323	0.88[ASN][1000 genomes]
rs12659125	0.89[ASN][1000 genomes]
rs12659597	1.00[CHB][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs13156960	0.80[ASN][1000 genomes]
rs1390642	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs1390644	0.92[ASN][1000 genomes]
rs1451735	0.95[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs1562911	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.80[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17083791	0.89[CEU][hapmap]
rs17083824	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17083825	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17083826	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17083827	0.88[ASN][1000 genomes]
rs17083828	0.88[ASN][1000 genomes]
rs17083873	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17083887	0.91[ASN][1000 genomes]
rs17083888	0.89[ASN][1000 genomes]
rs17083911	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083945	1.00[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs2003118	0.82[ASN][1000 genomes]
rs2032813	0.92[ASN][1000 genomes]
rs2044910	1.00[CEU][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2044911	1.00[CHB][hapmap];0.80[YRI][hapmap];0.89[ASN][1000 genomes]
rs2047318	1.00[CHB][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs2047319	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2122984	0.91[CHB][hapmap];0.88[ASN][1000 genomes]
rs2122985	0.95[CHB][hapmap];0.80[YRI][hapmap];0.88[ASN][1000 genomes]
rs2132548	1.00[CHB][hapmap];0.80[YRI][hapmap];0.89[ASN][1000 genomes]
rs2201620	0.90[ASN][1000 genomes]
rs2220965	0.90[ASN][1000 genomes]
rs2270626	0.95[CHB][hapmap];0.80[YRI][hapmap];0.87[ASN][1000 genomes]
rs2346764	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2346765	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs306574	0.95[CHB][hapmap]
rs34074526	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs35111621	0.82[ASN][1000 genomes]
rs3947399	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4537040	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56242961	0.88[ASN][1000 genomes]
rs56824518	0.88[ASN][1000 genomes]
rs57041121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57188935	0.88[ASN][1000 genomes]
rs60191000	0.88[ASN][1000 genomes]
rs61152231	0.82[ASN][1000 genomes]
rs6556850	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs6556851	1.00[CHB][hapmap];0.80[YRI][hapmap];0.89[ASN][1000 genomes]
rs66464936	0.88[ASN][1000 genomes]
rs66483218	0.88[ASN][1000 genomes]
rs66488253	0.88[ASN][1000 genomes]
rs66518525	0.89[ASN][1000 genomes]
rs66578784	0.90[ASN][1000 genomes]
rs66666052	0.81[ASN][1000 genomes]
rs66694903	0.88[ASN][1000 genomes]
rs66696350	0.89[ASN][1000 genomes]
rs66936860	0.87[ASN][1000 genomes]
rs67313609	0.91[ASN][1000 genomes]
rs67531524	0.88[ASN][1000 genomes]
rs67573880	0.82[ASN][1000 genomes]
rs67577452	0.82[ASN][1000 genomes]
rs67831380	0.91[ASN][1000 genomes]
rs67994891	0.86[ASN][1000 genomes]
rs6869588	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6879347	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6879384	0.95[CHB][hapmap];0.88[ASN][1000 genomes]
rs6883128	1.00[CHB][hapmap];0.83[YRI][hapmap];0.88[ASN][1000 genomes]
rs6883326	0.95[CHB][hapmap];0.80[YRI][hapmap];0.88[ASN][1000 genomes]
rs6890092	0.95[CHB][hapmap];0.80[JPT][hapmap];0.82[ASN][1000 genomes]
rs6891545	1.00[CHB][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs6893587	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6897550	0.95[CHB][hapmap];0.87[ASN][1000 genomes]
rs72771700	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72773504	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72773507	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72773513	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72773517	0.88[ASN][1000 genomes]
rs72773522	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72773523	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72773524	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72773526	0.88[ASN][1000 genomes]
rs72773528	0.82[ASN][1000 genomes]
rs72773533	0.89[ASN][1000 genomes]
rs72773541	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72773547	0.91[ASN][1000 genomes]
rs72773549	0.91[ASN][1000 genomes]
rs72773556	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72773573	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72773575	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72773586	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72773592	0.84[ASN][1000 genomes]
rs72775304	0.84[ASN][1000 genomes]
rs73136312	0.88[ASN][1000 genomes]
rs7446179	1.00[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs755900	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs7735473	0.91[CHB][hapmap]
rs7735659	0.89[ASN][1000 genomes]
rs7737187	0.94[CHB][hapmap];0.92[JPT][hapmap];0.80[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7737366	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs880264	0.81[ASN][1000 genomes]
rs9791082	1.00[CHB][hapmap]
rs9918142	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758002	chr5:93765205-94042201	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759354	chr5:93765205-94042201	Active TSS ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv462254	chr5:93956937-94056825	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv598953	chr5:93956937-94056825	ZNF genes & repeats Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv882387	chr5:94001476-94071404	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93955800-94027600	Weak transcription	NH-A	brain
2	chr5:93975600-94012000	Weak transcription	Aorta	Aorta
3	chr5:93976800-94025000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr5:93981000-94012000	Weak transcription	Left Ventricle	heart
5	chr5:93991200-94049000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr5:93994200-94012000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr5:93994200-94030800	Weak transcription	Right Ventricle	heart
8	chr5:93994200-94047200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr5:93994400-94012000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr5:93994400-94022600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr5:93994400-94025400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr5:93994400-94027600	Weak transcription	Liver	Liver
13	chr5:93994400-94027600	Weak transcription	NHDF-Ad	bronchial
14	chr5:93994400-94029000	Weak transcription	Brain Hippocampus Middle	brain
15	chr5:93994400-94048800	Weak transcription	Small Intestine	intestine
16	chr5:93994600-94026600	Weak transcription	Fetal Kidney	kidney
17	chr5:93994600-94029200	Weak transcription	Brain Anterior Caudate	brain
18	chr5:93994600-94032200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr5:93995400-94012000	Weak transcription	HepG2	liver
20	chr5:93995400-94024800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr5:93995600-94024400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr5:93995600-94033000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr5:93995600-94050400	Weak transcription	Esophagus	oesophagus
24	chr5:93995800-94012000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr5:93995800-94012000	Weak transcription	HSMM	muscle
26	chr5:93996000-94024000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr5:93996000-94027600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:93996000-94036000	Weak transcription	GM12878-XiMat	blood
29	chr5:93996200-94026600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr5:93996200-94029800	Weak transcription	Ovary	ovary
31	chr5:93996400-94012000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:93996600-94012000	Weak transcription	Fetal Muscle Trunk	muscle
33	chr5:93996600-94019200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr5:93996600-94023000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr5:93996600-94027800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr5:93996600-94048400	Weak transcription	Lung	lung
37	chr5:93996800-94013800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr5:93996800-94036200	Weak transcription	Gastric	stomach
39	chr5:93997000-94012000	Weak transcription	Spleen	Spleen
40	chr5:93997000-94033800	Weak transcription	Placenta	Placenta
41	chr5:93997400-94012000	Weak transcription	Pancreas	Pancrea
42	chr5:94001000-94030000	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr5:94001200-94012000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr5:94001200-94012000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr5:94001200-94012000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr5:94001200-94012000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr5:94001200-94017600	Weak transcription	Primary B cells from cord blood	blood
48	chr5:94001200-94022400	Weak transcription	Fetal Stomach	stomach
49	chr5:94001200-94023000	Weak transcription	Adipose Nuclei	Adipose
50	chr5:94001400-94016800	Weak transcription	Fetal Muscle Leg	muscle

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