Variant report

Variant	rs2075656
Chromosome Location	chr6:64286985-64286986
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:64285988-64287716	HepG2	liver:	n/a	n/a
2	POLR2A	chr6:64286737-64287116	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr6:64286143-64287464	K562	blood:	n/a	n/a
4	POLR2A	chr6:64286960-64287434	HCT-116	colon:	n/a	n/a
5	POLR2A	chr6:64286119-64287724	HepG2	liver:	n/a	n/a
6	POLR2A	chr6:64286136-64287716	A549	lung:	n/a	n/a
7	POLR2A	chr6:64286108-64295377	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr6:64286963-64287724	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr6:64281149-64296791	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr6:64286122-64295957	HepG2	liver:	n/a	n/a
11	POLR2A	chr6:64285885-64288231	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr6:64286938-64287678	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000266680	TF binding region

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs1062193	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11754293	1.00[JPT][hapmap]
rs11755111	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11756680	0.96[ASN][1000 genomes]
rs11757655	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11759362	1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11759581	1.00[JPT][hapmap]
rs1197892	1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1210839	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1681953	1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1681967	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16879705	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16894454	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16894460	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16894480	1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16894491	1.00[JPT][hapmap]
rs16894493	1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1744156	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1744163	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1872288	1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1905595	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1905597	1.00[JPT][hapmap]
rs1923521	0.96[ASN][1000 genomes]
rs1923522	0.96[ASN][1000 genomes]
rs2622310	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2622313	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28396397	0.96[ASN][1000 genomes]
rs28635226	0.96[ASN][1000 genomes]
rs2881842	1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35468218	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35811627	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3800494	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3857527	0.95[ASN][1000 genomes]
rs4710434	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56950873	0.96[ASN][1000 genomes]
rs56977573	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57258726	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57519486	0.96[ASN][1000 genomes]
rs57899418	0.96[ASN][1000 genomes]
rs58016244	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58173616	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58374599	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58779953	0.96[ASN][1000 genomes]
rs59458355	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59589817	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60727297	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60863270	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61382532	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61426335	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61580957	0.95[ASN][1000 genomes]
rs6454298	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66500769	0.96[ASN][1000 genomes]
rs66508463	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66514362	0.87[EUR][1000 genomes]
rs66559225	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs66618112	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66648865	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66683185	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs66769846	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs66924207	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66943356	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66984720	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67048845	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67118169	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67125777	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67260200	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67549604	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67640372	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67805256	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67879075	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67885904	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6929720	1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6936079	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72880852	0.82[ASN][1000 genomes]
rs72880876	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72880879	0.96[ASN][1000 genomes]
rs72880884	0.96[ASN][1000 genomes]
rs72882716	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72882748	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72882751	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7746492	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7766283	1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7766347	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7767556	0.96[ASN][1000 genomes]
rs9449520	0.93[EUR][1000 genomes];0.95[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	nsv965739	chr6:64286427-64287045	Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:64284000-64294000	Weak transcription	Spleen	Spleen
2	chr6:64284000-64297200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:64284200-64287400	Weak transcription	Pancreas	Pancrea
4	chr6:64284200-64289400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:64284200-64294200	Weak transcription	Gastric	stomach
6	chr6:64284200-64294400	Weak transcription	Lung	lung
7	chr6:64284400-64287000	Weak transcription	Left Ventricle	heart
8	chr6:64284400-64289400	Weak transcription	Fetal Muscle Leg	muscle
9	chr6:64284400-64289600	Weak transcription	Esophagus	oesophagus
10	chr6:64284400-64292600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:64284400-64294400	Weak transcription	Aorta	Aorta
12	chr6:64284400-64296200	Weak transcription	Ovary	ovary
13	chr6:64284600-64287000	Weak transcription	Brain Substantia Nigra	brain
14	chr6:64284600-64287000	Enhancers	Fetal Brain Male	brain
15	chr6:64284600-64289600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr6:64284600-64289600	Weak transcription	Thymus	Thymus
17	chr6:64284600-64292000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr6:64284600-64294800	Weak transcription	Right Ventricle	heart
19	chr6:64284800-64307600	Weak transcription	Fetal Stomach	stomach
20	chr6:64285000-64289200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr6:64285000-64294800	Weak transcription	Stomach Mucosa	stomach
22	chr6:64285200-64287600	Transcr. at gene 5' and 3'	Liver	Liver
23	chr6:64285400-64289600	Weak transcription	Brain Angular Gyrus	brain
24	chr6:64285400-64289600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr6:64285400-64293600	Weak transcription	Fetal Heart	heart
26	chr6:64285400-64294600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr6:64285600-64287000	Active TSS	GM12878-XiMat	blood
28	chr6:64285600-64287200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr6:64285600-64287200	Genic enhancers	Dnd41	blood
30	chr6:64285600-64291600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr6:64285600-64292800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr6:64285600-64295800	Weak transcription	Fetal Intestine Small	intestine
33	chr6:64285800-64293000	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr6:64286000-64287200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr6:64286000-64292800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr6:64286200-64287000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr6:64286200-64287000	Genic enhancers	Duodenum Smooth Muscle	Duodenum
38	chr6:64286200-64287200	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr6:64286200-64287200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr6:64286200-64287400	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr6:64286200-64287400	Transcr. at gene 5' and 3'	HepG2	liver
42	chr6:64286200-64288000	Genic enhancers	Fetal Intestine Large	intestine
43	chr6:64286200-64288400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
44	chr6:64286200-64290400	Strong transcription	H9 Cell Line	embryonic stem cell
45	chr6:64286200-64290600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
46	chr6:64286200-64290600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr6:64286200-64290600	Strong transcription	K562	blood
48	chr6:64286200-64290800	Strong transcription	Primary hematopoietic stem cells	blood
49	chr6:64286200-64291400	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr6:64286200-64291400	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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