Variant report

Variant	rs6869588
Chromosome Location	chr5:94029492-94029493
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 129 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:124)

rs_ID	r²[population]
rs1006626	0.83[ASN][1000 genomes]
rs1006627	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1026232	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1031389	0.90[CHB][hapmap]
rs11135406	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11135407	1.00[CHB][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs11135409	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11135410	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1124668	1.00[CHB][hapmap];0.80[JPT][hapmap];0.82[ASN][1000 genomes]
rs12514098	1.00[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12515845	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs12519472	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12521289	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12523457	1.00[CHB][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs12651956	0.85[ASN][1000 genomes]
rs12653116	0.87[ASN][1000 genomes]
rs12653594	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12653819	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12654602	0.80[ASN][1000 genomes]
rs12655521	1.00[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs12655665	1.00[CHB][hapmap];0.80[YRI][hapmap];0.81[ASN][1000 genomes]
rs12655669	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12656300	1.00[CHB][hapmap]
rs12656694	0.80[ASN][1000 genomes]
rs12657227	0.81[ASN][1000 genomes]
rs12657323	0.80[ASN][1000 genomes]
rs12659125	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12659597	1.00[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs13156960	0.85[ASN][1000 genomes]
rs1390642	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs1390644	0.84[ASN][1000 genomes]
rs1451735	0.95[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs1562911	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17083791	0.88[CEU][hapmap]
rs17083824	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17083825	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17083826	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17083827	0.80[ASN][1000 genomes]
rs17083828	0.80[ASN][1000 genomes]
rs17083873	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17083887	0.84[ASN][1000 genomes]
rs17083888	0.82[ASN][1000 genomes]
rs17083896	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]
rs17083911	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17083945	1.00[CHB][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs2003118	0.85[ASN][1000 genomes]
rs2032813	0.84[ASN][1000 genomes]
rs2044910	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2044911	1.00[CHB][hapmap];0.80[YRI][hapmap];0.81[ASN][1000 genomes]
rs2047318	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs2047319	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2122984	0.91[CHB][hapmap];0.80[ASN][1000 genomes]
rs2122985	0.95[CHB][hapmap];0.80[YRI][hapmap];0.80[ASN][1000 genomes]
rs2132548	1.00[CHB][hapmap];0.80[YRI][hapmap];0.81[ASN][1000 genomes]
rs2201620	0.83[ASN][1000 genomes]
rs2220965	0.82[ASN][1000 genomes]
rs2270626	0.95[CHB][hapmap];0.80[YRI][hapmap];0.82[ASN][1000 genomes]
rs2346764	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2346765	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs306574	0.95[CHB][hapmap]
rs34074526	0.96[ASN][1000 genomes]
rs35111621	0.85[ASN][1000 genomes]
rs3947399	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4537040	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56242961	0.80[ASN][1000 genomes]
rs56824518	0.81[ASN][1000 genomes]
rs57041121	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57188935	0.80[ASN][1000 genomes]
rs60191000	0.81[ASN][1000 genomes]
rs61152231	0.85[ASN][1000 genomes]
rs6556850	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs6556851	1.00[CHB][hapmap];0.80[YRI][hapmap];0.81[ASN][1000 genomes]
rs66464936	0.81[ASN][1000 genomes]
rs66483218	0.81[ASN][1000 genomes]
rs66488253	0.80[ASN][1000 genomes]
rs66518525	0.81[ASN][1000 genomes]
rs66578784	0.82[ASN][1000 genomes]
rs66666052	0.85[ASN][1000 genomes]
rs66694903	0.80[ASN][1000 genomes]
rs66696350	0.81[ASN][1000 genomes]
rs66901899	0.81[ASN][1000 genomes]
rs67313609	0.83[ASN][1000 genomes]
rs67531524	0.80[ASN][1000 genomes]
rs67573880	0.85[ASN][1000 genomes]
rs67577452	0.85[ASN][1000 genomes]
rs67674687	0.83[ASN][1000 genomes]
rs67831380	0.83[ASN][1000 genomes]
rs6879347	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6879384	0.95[CHB][hapmap];0.81[ASN][1000 genomes]
rs6883128	1.00[CHB][hapmap];0.83[YRI][hapmap];0.81[ASN][1000 genomes]
rs6883326	0.95[CHB][hapmap];0.80[YRI][hapmap];0.81[ASN][1000 genomes]
rs6890092	0.95[CHB][hapmap];0.80[JPT][hapmap];0.87[ASN][1000 genomes]
rs6891545	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs6893587	0.92[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6897550	0.95[CHB][hapmap]
rs72771700	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72773504	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72773507	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72773513	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72773517	0.80[ASN][1000 genomes]
rs72773522	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72773523	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72773524	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72773526	0.80[ASN][1000 genomes]
rs72773533	0.81[ASN][1000 genomes]
rs72773541	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72773547	0.83[ASN][1000 genomes]
rs72773549	0.84[ASN][1000 genomes]
rs72773556	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72773573	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72773575	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72773586	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72773592	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72775304	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73136312	0.80[ASN][1000 genomes]
rs7446179	1.00[CHB][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs755900	1.00[CHB][hapmap]
rs7735473	0.91[CHB][hapmap];0.81[ASN][1000 genomes]
rs7735659	0.81[ASN][1000 genomes]
rs7737187	0.94[CHB][hapmap];0.92[JPT][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7737366	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs880264	0.84[ASN][1000 genomes]
rs9791082	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs9918142	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93991200-94049000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr5:93994200-94030800	Weak transcription	Right Ventricle	heart
3	chr5:93994200-94047200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr5:93994400-94048800	Weak transcription	Small Intestine	intestine
5	chr5:93994600-94032200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr5:93995600-94033000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr5:93995600-94050400	Weak transcription	Esophagus	oesophagus
8	chr5:93996000-94036000	Weak transcription	GM12878-XiMat	blood
9	chr5:93996200-94029800	Weak transcription	Ovary	ovary
10	chr5:93996600-94048400	Weak transcription	Lung	lung
11	chr5:93996800-94036200	Weak transcription	Gastric	stomach
12	chr5:93997000-94033800	Weak transcription	Placenta	Placenta
13	chr5:94001000-94030000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr5:94008600-94038600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:94012600-94034000	Weak transcription	Pancreas	Pancrea
16	chr5:94012600-94035000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr5:94012600-94048400	Weak transcription	Aorta	Aorta
18	chr5:94012600-94048400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr5:94012600-94049000	Weak transcription	Left Ventricle	heart
20	chr5:94012600-94051000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr5:94012600-94053600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr5:94013000-94032400	Weak transcription	HepG2	liver
23	chr5:94020200-94048400	Weak transcription	Psoas Muscle	Psoas
24	chr5:94020800-94050000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr5:94022200-94029800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr5:94022800-94031200	Strong transcription	Fetal Thymus	thymus
27	chr5:94022800-94032400	Strong transcription	Dnd41	blood
28	chr5:94023200-94045600	Weak transcription	Primary B cells from cord blood	blood
29	chr5:94023200-94046400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:94023200-94049800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr5:94023200-94050400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr5:94023200-94051000	Weak transcription	Thymus	Thymus
33	chr5:94023400-94032600	Weak transcription	Fetal Intestine Large	intestine
34	chr5:94023400-94035600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr5:94023400-94044200	Weak transcription	Primary T cells from cord blood	blood
36	chr5:94023400-94045000	Weak transcription	Fetal Muscle Trunk	muscle
37	chr5:94023400-94050400	Weak transcription	Fetal Muscle Leg	muscle
38	chr5:94023400-94051800	Weak transcription	Fetal Intestine Small	intestine
39	chr5:94024600-94046600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr5:94024600-94051800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr5:94025800-94036200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr5:94025800-94037800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr5:94025800-94046200	Weak transcription	Adipose Nuclei	Adipose
44	chr5:94025800-94050800	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr5:94025800-94050800	Weak transcription	K562	blood
46	chr5:94025800-94051400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr5:94026000-94029800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr5:94026000-94030400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr5:94026000-94030600	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr5:94026000-94038400	Weak transcription	Primary hematopoietic stem cells	blood

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