Variant report

Variant	rs6658116
Chromosome Location	chr1:171786758-171786759
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:171785613..171787627-chr1:171789053..171791436,2	K562	blood:
2	chr1:171785258..171787192-chr1:171953083..171954912,2	K562	blood:

Extended variants
information (count: 120 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs10158220	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10158235	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10158943	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10159080	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10489253	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10753190	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10753195	0.95[CHB][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs10753196	0.95[CHB][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs10753197	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10753198	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1079820	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10798637	0.86[JPT][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10798657	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10798658	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10798661	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10798679	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913633	0.84[EUR][1000 genomes]
rs10913639	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10913651	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10913730	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10913743	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10913799	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10913803	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11579138	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11580187	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11585645	0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs11588649	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11589200	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11589823	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11590059	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11590829	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11807195	0.82[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12022693	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12022753	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12031686	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12035109	0.84[EUR][1000 genomes]
rs12036580	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12057976	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12063769	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12562644	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12723938	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12735285	0.81[CEU][hapmap];0.85[CHB][hapmap];0.86[EUR][1000 genomes]
rs12754084	0.81[CEU][hapmap];0.85[CHB][hapmap];0.84[EUR][1000 genomes]
rs12755791	0.81[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1555101	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1555102	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17597528	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17597542	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2206541	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2206542	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2232804	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2232809	0.95[CHB][hapmap];0.86[ASN][1000 genomes]
rs2232811	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2294719	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2294720	0.81[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2294721	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2294722	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2421912	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2421913	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34219132	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35738870	0.84[EUR][1000 genomes]
rs4292987	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55739261	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59592673	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6425416	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6425417	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6425422	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6425428	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6425435	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425436	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425437	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425440	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425441	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6656814	0.81[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6657803	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6658730	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6658980	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6659621	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6665727	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6668165	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6674810	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6675011	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6678230	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6682147	0.92[ASN][1000 genomes]
rs6685030	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6689108	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6689213	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6690544	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6695736	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6698366	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6698467	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6698892	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6700184	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6700384	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6702424	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs732304	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs732305	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7517546	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7517555	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7520688	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs752514	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7525313	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7537173	0.92[ASN][1000 genomes]
rs7537770	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7537931	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7537935	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7539505	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7541128	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7542691	0.82[CEU][hapmap];0.86[CHB][hapmap];0.84[EUR][1000 genomes]
rs7545100	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7549347	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7550603	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7552369	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7556602	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs764179	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs764180	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs909959	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv872545	chr1:171735198-171805448	Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 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	chr1:171770200-171794600	Weak transcription	Primary T cells from cord blood	blood
2	chr1:171773000-171796000	Weak transcription	Pancreas	Pancrea
3	chr1:171775000-171787000	Weak transcription	Left Ventricle	heart
4	chr1:171783200-171786800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:171784600-171787200	Weak transcription	Brain Angular Gyrus	brain
6	chr1:171785200-171787000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr1:171785400-171787200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:171785400-171787800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr1:171785800-171787600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:171786000-171787400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr1:171786000-171787600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:171786000-171787600	Enhancers	NHEK	skin
13	chr1:171786000-171787800	Enhancers	Hela-S3	cervix
14	chr1:171786200-171786800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:171786200-171787000	Enhancers	NHDF-Ad	bronchial
16	chr1:171786200-171787400	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr1:171786200-171787600	Enhancers	H1 Cell Line	embryonic stem cell
18	chr1:171786200-171787600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:171786200-171787600	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr1:171786200-171787800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:171786200-171787800	Enhancers	Brain Substantia Nigra	brain
22	chr1:171786200-171788000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr1:171786400-171787000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:171786400-171787000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr1:171786400-171787000	Enhancers	Brain Cingulate Gyrus	brain
26	chr1:171786400-171787200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:171786400-171787400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:171786400-171787400	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr1:171786400-171787400	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr1:171786400-171787400	Enhancers	Placenta Amnion	Placenta Amnion
31	chr1:171786400-171787400	Enhancers	HUVEC	blood vessel
32	chr1:171786400-171787400	Enhancers	NH-A	brain
33	chr1:171786400-171787400	Enhancers	NHLF	lung
34	chr1:171786400-171787600	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr1:171786400-171787600	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr1:171786400-171787600	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr1:171786400-171787600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:171786400-171787600	Enhancers	Brain Anterior Caudate	brain
39	chr1:171786400-171787600	Flanking Active TSS	A549	lung
40	chr1:171786400-171787600	Enhancers	HMEC	breast
41	chr1:171786400-171787800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:171786400-171787800	Enhancers	Brain Hippocampus Middle	brain
43	chr1:171786400-171787800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr1:171786400-171787800	Enhancers	HSMMtube	muscle
45	chr1:171786400-171787800	Enhancers	K562	blood
46	chr1:171786600-171787200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:171786600-171787200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr1:171786600-171787200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr1:171786600-171787400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr1:171786600-171787400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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