Variant report

Variant	rs6604031
Chromosome Location	chr1:93400766-93400767
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	chr1:93395904..93397842-chr1:93400107..93402476,2	K562	blood:

Variant related genes	Relation type
ENSG00000229052	Chromatin interaction

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10493863	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10782945	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10782946	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10874744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10874746	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10874747	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10874751	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10874753	0.87[CEU][hapmap];0.90[EUR][1000 genomes]
rs11164830	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11164835	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11164836	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11164840	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11164842	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11164843	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11164844	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11164845	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11423955	0.85[ASN][1000 genomes]
rs11577636	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11578986	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11587920	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12059883	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12060952	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12065253	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12066638	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12069727	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12074608	0.92[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12081675	0.84[CEU][hapmap]
rs12745968	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1337107	1.00[JPT][hapmap]
rs1360366	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1535372	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs17380908	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2255717	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2255723	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2263247	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2391177	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2481710	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481711	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2481712	0.84[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2481713	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2481714	0.84[EUR][1000 genomes]
rs2492293	0.80[EUR][1000 genomes]
rs2492294	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2774945	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2774946	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2774949	0.92[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2774950	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2774952	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2774953	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2774954	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2774955	0.82[EUR][1000 genomes]
rs2774956	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2811589	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2811590	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2811591	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2811593	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2811594	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2811596	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2811597	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2811598	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2811600	0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2893225	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34084844	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34389767	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34398175	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35367625	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4300228	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4308991	1.00[CHB][hapmap]
rs4351651	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4420089	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4450029	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4561051	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4592265	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4847378	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4847384	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6604014	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs6604028	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6604029	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6604030	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6666831	0.85[CEU][hapmap]
rs6694051	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6697543	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6698082	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6698179	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6698233	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6700585	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7417198	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7515257	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7517935	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7536563	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7542608	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7550347	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7550660	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9439948	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9440127	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9440134	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs949915	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9651257	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93366400-93409200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:93377000-93401400	Weak transcription	Dnd41	blood
3	chr1:93388200-93408800	Weak transcription	Pancreas	Pancrea
4	chr1:93390400-93402200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:93391200-93408800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:93392000-93401200	Enhancers	Primary B cells from peripheral blood	blood
7	chr1:93395000-93407200	Weak transcription	Small Intestine	intestine
8	chr1:93395200-93401000	Enhancers	Primary B cells from cord blood	blood
9	chr1:93395400-93408800	Weak transcription	Stomach Mucosa	stomach
10	chr1:93395800-93405200	Weak transcription	Ovary	ovary
11	chr1:93395800-93408800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:93396800-93400800	Enhancers	Placenta	Placenta
13	chr1:93398200-93400800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr1:93398200-93401600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:93398200-93403600	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr1:93398400-93400800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:93398400-93401000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:93398400-93401400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:93398400-93401800	Enhancers	NHEK	skin
20	chr1:93398800-93400800	Enhancers	Fetal Lung	lung
21	chr1:93398800-93402600	Enhancers	NHLF	lung
22	chr1:93398800-93403600	Enhancers	NHDF-Ad	bronchial
23	chr1:93399000-93400800	Enhancers	Brain Cingulate Gyrus	brain
24	chr1:93399000-93401200	Enhancers	HMEC	breast
25	chr1:93399000-93401600	Enhancers	Rectal Smooth Muscle	rectum
26	chr1:93399000-93403600	Enhancers	Brain Hippocampus Middle	brain
27	chr1:93399200-93402400	Enhancers	Fetal Brain Male	brain
28	chr1:93399200-93403200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr1:93399200-93403600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:93399200-93410200	Weak transcription	Right Ventricle	heart
31	chr1:93399400-93400800	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr1:93399400-93403000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr1:93399600-93400800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr1:93399600-93402200	Weak transcription	Fetal Intestine Large	intestine
35	chr1:93399600-93408800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr1:93399800-93400800	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr1:93399800-93400800	Enhancers	Brain Angular Gyrus	brain
38	chr1:93399800-93401600	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr1:93399800-93402600	Enhancers	Adipose Nuclei	Adipose
40	chr1:93400000-93400800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:93400000-93400800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr1:93400000-93400800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:93400000-93400800	Enhancers	HSMM	muscle
44	chr1:93400000-93400800	Flanking Active TSS	Osteobl	bone
45	chr1:93400000-93401200	Enhancers	NH-A	brain
46	chr1:93400000-93401600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr1:93400000-93401600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr1:93400000-93401800	Enhancers	Brain Germinal Matrix	brain
49	chr1:93400000-93402000	Enhancers	HepG2	liver
50	chr1:93400000-93402600	Enhancers	Primary T cells from cord blood	blood

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