Variant report

Variant	rs17357206
Chromosome Location	chr3:28363559-28363560
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:28354861..28358601-chr3:28360600..28365308,4	K562	blood:
2	chr3:28357101..28361533-chr3:28362212..28365106,5	K562	blood:

Variant related genes	Relation type
ENSG00000187118	Chromatin interaction

Extended variants
information (count: 118 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs1037723	0.89[ASN][1000 genomes]
rs11705962	0.86[ASN][1000 genomes]
rs11706332	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11707705	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11710963	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11712484	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11712489	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11720107	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.88[JPT][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.92[ASN][1000 genomes]
rs11918050	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11921692	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11921943	1.00[CHB][hapmap];0.90[CHD][hapmap]
rs11924173	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11926399	0.92[ASN][1000 genomes]
rs12107256	0.85[CHB][hapmap];0.84[MEX][hapmap]
rs13066118	0.84[ASN][1000 genomes]
rs13069839	0.80[ASN][1000 genomes]
rs13074633	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13075840	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs13080155	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13081520	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.97[TSI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13081787	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13082167	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.88[JPT][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap]
rs13083544	0.85[CHB][hapmap];0.83[MEX][hapmap]
rs13085075	1.00[CHB][hapmap];0.80[CHD][hapmap]
rs13087143	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13087774	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13088574	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.88[JPT][hapmap];0.92[TSI][hapmap];0.92[ASN][1000 genomes]
rs13090296	0.85[CHB][hapmap];0.89[MEX][hapmap]
rs13090439	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13093242	0.85[CHB][hapmap]
rs13095628	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.88[JPT][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13095675	1.00[CHB][hapmap];0.86[CHD][hapmap];0.80[ASN][1000 genomes]
rs13099152	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1457909	0.87[ASN][1000 genomes]
rs1457910	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1585211	1.00[CHB][hapmap];0.90[CHD][hapmap]
rs1598846	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.84[MKK][hapmap];0.97[TSI][hapmap]
rs1599826	0.92[CHB][hapmap]
rs1606386	0.91[CEU][hapmap];0.92[CHB][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1606388	1.00[ASW][hapmap];0.91[CEU][hapmap];0.92[CHB][hapmap];0.89[CHD][hapmap];0.86[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1610238	0.85[CHB][hapmap];0.89[MEX][hapmap]
rs17021221	0.85[CHB][hapmap]
rs17021306	0.85[CHB][hapmap];0.89[MEX][hapmap]
rs17021402	0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17638742	1.00[ASW][hapmap];0.91[CEU][hapmap];0.92[CHB][hapmap];0.84[CHD][hapmap];0.93[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17638782	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17638991	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17639978	0.95[CEU][hapmap];1.00[GIH][hapmap];0.95[TSI][hapmap]
rs17695765	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17695884	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17696025	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[JPT][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17696459	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17696561	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17696783	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.88[JPT][hapmap];0.94[MEX][hapmap];0.88[TSI][hapmap];0.89[ASN][1000 genomes]
rs1870259	1.00[CHB][hapmap];0.90[CHD][hapmap]
rs1975828	0.80[ASN][1000 genomes]
rs2168799	1.00[CHB][hapmap];0.90[CHD][hapmap]
rs34311197	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34574968	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34796684	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35088087	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35137555	0.87[ASN][1000 genomes]
rs35177150	0.89[ASN][1000 genomes]
rs35702956	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35736614	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35825908	0.89[ASN][1000 genomes]
rs35845822	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36051688	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36105900	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3762797	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4256085	0.85[ASN][1000 genomes]
rs4295137	0.85[ASN][1000 genomes]
rs4322963	0.84[ASN][1000 genomes]
rs4428136	0.83[ASN][1000 genomes]
rs4450765	0.85[ASN][1000 genomes]
rs4452283	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4522735	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4680750	0.80[ASN][1000 genomes]
rs4680909	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs4680913	1.00[CHB][hapmap];0.90[CHD][hapmap]
rs58918848	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59975750	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60043893	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62250271	0.92[ASN][1000 genomes]
rs62250272	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62250273	0.91[ASN][1000 genomes]
rs62250296	0.89[ASN][1000 genomes]
rs62251105	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62251108	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62251131	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62251134	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62251138	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62251144	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62252069	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6551255	0.95[ASN][1000 genomes]
rs66733194	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66767946	0.86[ASN][1000 genomes]
rs6763313	0.80[ASN][1000 genomes]
rs6771057	1.00[CHB][hapmap];0.90[CHD][hapmap];0.80[ASN][1000 genomes]
rs6771460	0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6803692	1.00[CHB][hapmap]
rs68085718	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71087683	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7434193	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7635383	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7638450	0.92[ASN][1000 genomes]
rs7639750	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs7641491	1.00[CHB][hapmap];0.80[CHD][hapmap]
rs7643191	0.90[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs7649498	1.00[CHB][hapmap];0.90[CHD][hapmap];0.80[ASN][1000 genomes]
rs7650831	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7651883	1.00[CHB][hapmap];0.90[CHD][hapmap]
rs952888	0.90[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9683360	0.89[ASN][1000 genomes]
rs969443	0.91[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs9843464	1.00[CHB][hapmap];0.90[CHD][hapmap];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3328565	chr3:27991169-28915035	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv876649	chr3:28126595-28718454	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:28314400-28365400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr3:28317600-28380000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr3:28317600-28389400	Weak transcription	Esophagus	oesophagus
4	chr3:28326400-28365400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr3:28332800-28365200	Weak transcription	HSMMtube	muscle
6	chr3:28332800-28365400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr3:28337200-28365200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr3:28338200-28364000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr3:28343800-28383800	Weak transcription	Aorta	Aorta
10	chr3:28348600-28365200	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr3:28349000-28365400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr3:28349400-28364200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr3:28349400-28365600	Weak transcription	Psoas Muscle	Psoas
14	chr3:28349600-28365400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr3:28349800-28389400	Weak transcription	Gastric	stomach
16	chr3:28350000-28363800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:28350000-28376800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr3:28350400-28365400	Weak transcription	Colon Smooth Muscle	Colon
19	chr3:28351200-28366600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr3:28351400-28365600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr3:28351400-28366800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr3:28354200-28364600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr3:28354800-28365600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr3:28356000-28364000	Weak transcription	Brain Substantia Nigra	brain
25	chr3:28356800-28376800	Weak transcription	Ovary	ovary
26	chr3:28357200-28365600	Weak transcription	Colonic Mucosa	Colon
27	chr3:28357400-28366200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr3:28357400-28366600	Weak transcription	Fetal Brain Male	brain
29	chr3:28357600-28365600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr3:28357600-28370400	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr3:28357800-28365600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr3:28358400-28366600	Weak transcription	Fetal Heart	heart
33	chr3:28358600-28365000	Weak transcription	Hela-S3	cervix
34	chr3:28358600-28365400	Weak transcription	Primary B cells from peripheral blood	blood
35	chr3:28358600-28365600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr3:28358600-28367000	Weak transcription	HMEC	breast
37	chr3:28358600-28386400	Weak transcription	Thymus	Thymus
38	chr3:28358800-28364800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr3:28358800-28365600	Weak transcription	Fetal Muscle Leg	muscle
40	chr3:28358800-28389000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr3:28359000-28363800	Weak transcription	HSMM	muscle
42	chr3:28359000-28364000	Weak transcription	NH-A	brain
43	chr3:28359000-28365400	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr3:28359000-28365400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr3:28359000-28365600	Weak transcription	Pancreas	Pancrea
46	chr3:28359200-28366600	Strong transcription	Dnd41	blood
47	chr3:28359400-28363600	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr3:28359400-28366600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr3:28359600-28364400	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr3:28359600-28365400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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