Variant report

Variant	rs705586
Chromosome Location	chr6:101268046-101268047
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 184 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:174)

rs_ID	r²[population]
rs10223467	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1039030	0.86[EUR][1000 genomes]
rs1039031	0.82[EUR][1000 genomes]
rs1039032	0.82[EUR][1000 genomes]
rs10457077	0.85[EUR][1000 genomes]
rs10457844	0.85[EUR][1000 genomes]
rs10457849	0.88[EUR][1000 genomes]
rs1070990	0.90[EUR][1000 genomes]
rs10872622	0.82[EUR][1000 genomes]
rs10872628	0.85[EUR][1000 genomes]
rs10872634	0.86[EUR][1000 genomes]
rs1099916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11155613	0.91[EUR][1000 genomes]
rs11155618	0.85[EUR][1000 genomes]
rs11155623	0.84[EUR][1000 genomes]
rs11155635	0.86[EUR][1000 genomes]
rs11155636	0.86[EUR][1000 genomes]
rs11155637	0.86[EUR][1000 genomes]
rs11155638	0.86[EUR][1000 genomes]
rs11155653	0.87[EUR][1000 genomes]
rs11155659	0.87[EUR][1000 genomes]
rs11155661	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11155666	0.87[EUR][1000 genomes]
rs11155673	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11752659	0.86[EUR][1000 genomes]
rs11756783	0.93[ASN][1000 genomes]
rs11758891	0.95[ASN][1000 genomes]
rs11967951	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12174806	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12175456	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12194255	0.82[EUR][1000 genomes]
rs12195369	0.86[EUR][1000 genomes]
rs12202621	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12206838	0.86[EUR][1000 genomes]
rs12209777	0.82[EUR][1000 genomes]
rs12209887	0.82[EUR][1000 genomes]
rs12210255	0.85[EUR][1000 genomes]
rs12210550	0.87[EUR][1000 genomes]
rs12212435	0.85[EUR][1000 genomes]
rs12213201	0.85[EUR][1000 genomes]
rs12215909	0.92[EUR][1000 genomes]
rs12525128	0.96[ASN][1000 genomes]
rs12525818	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12526352	0.93[ASN][1000 genomes]
rs12528607	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12664626	0.85[EUR][1000 genomes]
rs13196803	0.85[EUR][1000 genomes]
rs13201267	0.93[ASN][1000 genomes]
rs13208757	0.85[EUR][1000 genomes]
rs13217436	0.99[ASN][1000 genomes]
rs1336242	0.89[EUR][1000 genomes]
rs1336244	0.86[EUR][1000 genomes]
rs1336245	0.86[EUR][1000 genomes]
rs1414734	0.92[EUR][1000 genomes]
rs17190683	0.94[ASN][1000 genomes]
rs17794439	0.96[ASN][1000 genomes]
rs180963	0.80[EUR][1000 genomes]
rs183566	0.82[EUR][1000 genomes]
rs2050549	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2101814	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2132168	0.85[EUR][1000 genomes]
rs2132169	0.85[EUR][1000 genomes]
rs2134044	0.92[ASN][1000 genomes]
rs239208	0.81[EUR][1000 genomes]
rs239209	0.82[EUR][1000 genomes]
rs239215	0.82[EUR][1000 genomes]
rs239234	0.80[EUR][1000 genomes]
rs239236	0.80[EUR][1000 genomes]
rs34759265	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35168784	0.85[EUR][1000 genomes]
rs35967345	0.85[EUR][1000 genomes]
rs3811078	0.96[CEU][hapmap];0.82[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3818233	0.92[ASN][1000 genomes]
rs41288423	0.82[EUR][1000 genomes]
rs4463266	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4571568	0.87[EUR][1000 genomes]
rs4839789	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4839792	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4840147	0.85[EUR][1000 genomes]
rs4840148	0.85[EUR][1000 genomes]
rs4840150	0.91[EUR][1000 genomes]
rs4840151	0.85[EUR][1000 genomes]
rs4840153	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4840154	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4840155	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4840157	0.84[CHB][hapmap];0.82[JPT][hapmap]
rs4840159	0.81[CEU][hapmap]
rs62422070	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6570922	0.85[EUR][1000 genomes]
rs6570930	0.85[EUR][1000 genomes]
rs6570969	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6570970	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6905113	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6907444	0.82[EUR][1000 genomes]
rs6909880	0.85[EUR][1000 genomes]
rs6916468	0.82[EUR][1000 genomes]
rs6919283	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6925065	0.91[EUR][1000 genomes]
rs6925316	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6925823	0.85[EUR][1000 genomes]
rs6925840	0.87[EUR][1000 genomes]
rs6927598	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6932158	0.92[EUR][1000 genomes]
rs705583	0.90[EUR][1000 genomes]
rs705584	0.90[EUR][1000 genomes]
rs705585	0.90[EUR][1000 genomes]
rs723742	0.96[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs723743	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7451736	0.85[EUR][1000 genomes]
rs7740783	0.94[EUR][1000 genomes]
rs7742011	0.89[EUR][1000 genomes]
rs7746947	0.85[EUR][1000 genomes]
rs7746961	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7747014	0.86[EUR][1000 genomes]
rs7748644	0.82[EUR][1000 genomes]
rs7753317	0.85[EUR][1000 genomes]
rs7754085	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7759463	0.94[ASN][1000 genomes]
rs7768210	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7771570	0.81[CEU][hapmap]
rs846778	0.93[EUR][1000 genomes]
rs846799	0.92[EUR][1000 genomes]
rs846800	0.90[EUR][1000 genomes]
rs846803	0.90[EUR][1000 genomes]
rs9322173	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9322174	0.90[EUR][1000 genomes]
rs9322181	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9322182	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9322183	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9322212	0.96[CEU][hapmap];0.82[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9322213	0.92[EUR][1000 genomes]
rs9322216	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9373571	0.93[ASN][1000 genomes]
rs9373574	0.94[ASN][1000 genomes]
rs9373590	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9377085	0.90[ASN][1000 genomes]
rs9377193	0.93[ASN][1000 genomes]
rs9377214	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9377232	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9377234	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9377235	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9386250	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9386257	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9390502	0.90[ASN][1000 genomes]
rs9390626	0.94[ASN][1000 genomes]
rs9390675	0.94[ASN][1000 genomes]
rs9390679	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9390681	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9390682	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9390685	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9390693	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9390695	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9390698	0.82[JPT][hapmap]
rs9399641	0.93[ASN][1000 genomes]
rs9399656	0.94[ASN][1000 genomes]
rs9399685	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9399688	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9399694	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9403962	0.94[ASN][1000 genomes]
rs9404016	0.91[EUR][1000 genomes]
rs9404022	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9404031	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9404033	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9404045	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9404049	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9404052	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9404053	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9404054	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9485410	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9485411	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9498252	0.90[EUR][1000 genomes]
rs9498390	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs964223	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs979122	0.84[CHB][hapmap];0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949535	chr6:100740293-101469052	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv886456	chr6:101049108-101277926	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1020692	chr6:101136992-101426071	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv604275	chr6:101158950-101277926	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv886457	chr6:101158950-101487473	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1016353	chr6:101172705-101304041	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv1020400	chr6:101172705-101981665	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv538390	chr6:101172705-101981665	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv1019213	chr6:101225650-101623140	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
10	nsv538391	chr6:101225650-101623140	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:101184400-101304600	Weak transcription	Hela-S3	cervix
2	chr6:101191400-101277000	Weak transcription	Esophagus	oesophagus
3	chr6:101212000-101276200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:101212000-101281400	Weak transcription	Aorta	Aorta
5	chr6:101213600-101281600	Weak transcription	Gastric	stomach
6	chr6:101214800-101281600	Weak transcription	Left Ventricle	heart
7	chr6:101215200-101311400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr6:101226000-101281400	Weak transcription	HUVEC	blood vessel
9	chr6:101233600-101306600	Weak transcription	K562	blood
10	chr6:101238000-101296200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr6:101240600-101277000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:101241600-101276200	Weak transcription	Fetal Intestine Large	intestine
13	chr6:101241800-101276200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:101243200-101276200	Weak transcription	Fetal Lung	lung
15	chr6:101243200-101277800	Weak transcription	NHEK	skin
16	chr6:101243800-101276200	Weak transcription	Thymus	Thymus
17	chr6:101244600-101268800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:101244600-101271000	Weak transcription	HSMMtube	muscle
19	chr6:101244600-101276200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:101244600-101296200	Weak transcription	NH-A	brain
21	chr6:101249400-101298200	Weak transcription	A549	lung
22	chr6:101251400-101271200	Weak transcription	HSMM	muscle
23	chr6:101252200-101293800	Weak transcription	HMEC	breast
24	chr6:101252200-101295600	Weak transcription	NHDF-Ad	bronchial
25	chr6:101253200-101294800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr6:101253400-101276000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr6:101253400-101276200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr6:101253400-101276200	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr6:101253400-101277800	Weak transcription	Dnd41	blood
30	chr6:101253400-101284400	Weak transcription	Primary B cells from cord blood	blood
31	chr6:101253400-101295600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr6:101253400-101295800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr6:101253400-101304200	Weak transcription	Primary T cells from cord blood	blood
34	chr6:101253600-101276200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr6:101253600-101284000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr6:101253800-101268600	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr6:101253800-101292600	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr6:101253800-101295600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr6:101257400-101277000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr6:101257600-101268200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr6:101257600-101275800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr6:101257600-101294200	Weak transcription	Osteobl	bone
43	chr6:101258200-101276200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr6:101258200-101295600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr6:101260000-101268800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr6:101261400-101269000	Weak transcription	Lung	lung
47	chr6:101261400-101276200	Weak transcription	Fetal Intestine Small	intestine
48	chr6:101261400-101279400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr6:101264000-101295600	Weak transcription	HepG2	liver
50	chr6:101266400-101276200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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