Variant report

Variant	rs3767210
Chromosome Location	chr1:70651979-70651980
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:70645372..70647137-chr1:70649997..70652208,2	K562	blood:

Variant related genes	Relation type
ENSG00000244389	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1009125	0.83[CEU][hapmap]
rs10493469	0.83[CEU][hapmap]
rs10493470	0.83[CEU][hapmap]
rs10493471	0.83[CEU][hapmap]
rs10493472	0.83[CEU][hapmap];0.90[CHB][hapmap]
rs11799572	0.82[CEU][hapmap];0.90[CHB][hapmap]
rs11810721	0.83[CEU][hapmap];0.90[CHB][hapmap]
rs1353467	0.91[CEU][hapmap]
rs1590724	0.83[CEU][hapmap]
rs17131177	0.91[CEU][hapmap]
rs17131182	0.83[CEU][hapmap]
rs17131183	0.83[CEU][hapmap]
rs17131186	0.91[CEU][hapmap]
rs17131190	0.83[CEU][hapmap]
rs17131191	0.83[CEU][hapmap]
rs17131193	0.83[CEU][hapmap]
rs17131196	0.91[CEU][hapmap]
rs17131201	0.91[CEU][hapmap]
rs17131204	0.83[CEU][hapmap];0.90[CHB][hapmap]
rs17131207	0.90[CEU][hapmap];0.90[CHB][hapmap]
rs17131208	0.83[CEU][hapmap];0.90[CHB][hapmap]
rs17131212	0.91[CEU][hapmap];0.90[CHB][hapmap]
rs17131215	0.83[CEU][hapmap];0.90[CHB][hapmap]
rs17131217	0.91[CEU][hapmap];0.90[CHB][hapmap];0.90[GIH][hapmap]
rs17131218	0.83[CEU][hapmap];0.90[CHB][hapmap]
rs17131220	0.86[CHB][hapmap]
rs17131223	0.83[CEU][hapmap];0.85[GIH][hapmap];0.85[MEX][hapmap];0.87[TSI][hapmap];0.85[AMR][1000 genomes]
rs17357463	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2031710	0.83[CEU][hapmap]
rs2101889	0.83[CEU][hapmap]
rs2220959	0.83[CEU][hapmap]
rs28537484	0.90[AMR][1000 genomes]
rs3738119	0.91[CEU][hapmap];0.90[CHB][hapmap];0.87[GIH][hapmap]
rs3767209	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3767211	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41287888	0.86[AMR][1000 genomes]
rs4650019	0.91[CEU][hapmap]
rs4650020	0.83[CEU][hapmap]
rs4650026	0.83[CEU][hapmap]
rs487613	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55634563	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs55782523	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55970826	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56200611	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56297507	0.92[EUR][1000 genomes]
rs61784315	0.86[AMR][1000 genomes]
rs61784317	0.95[AMR][1000 genomes]
rs61784318	0.95[AMR][1000 genomes]
rs61784319	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61784320	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61785271	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61785280	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61785281	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61785283	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61785284	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61785285	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61785288	0.83[EUR][1000 genomes]
rs6678316	0.92[AMR][1000 genomes]
rs6679805	0.90[CEU][hapmap]
rs6690627	0.83[CEU][hapmap]
rs6694380	0.83[CEU][hapmap]
rs6696040	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs724681	0.91[CEU][hapmap]
rs7413084	0.83[CEU][hapmap]
rs7511650	0.91[CEU][hapmap]
rs7518536	0.83[CEU][hapmap];0.82[AMR][1000 genomes]
rs7521532	0.83[CEU][hapmap];0.90[CHB][hapmap]
rs7552694	0.82[ASW][hapmap];1.00[CEU][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.87[EUR][1000 genomes]
rs7553993	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9970462	0.82[AMR][1000 genomes]
rs9970998	0.82[AMR][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	esv1798518	chr1:70604106-70723347	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv1797140	chr1:70604106-70724622	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv870841	chr1:70612416-70696554	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70601200-70652000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr1:70606800-70661800	Weak transcription	Brain Hippocampus Middle	brain
3	chr1:70607000-70670200	Weak transcription	Psoas Muscle	Psoas
4	chr1:70607000-70670400	Weak transcription	Small Intestine	intestine
5	chr1:70607200-70652600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr1:70607400-70655200	Weak transcription	Colon Smooth Muscle	Colon
7	chr1:70608400-70653400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr1:70608800-70654800	Weak transcription	Thymus	Thymus
9	chr1:70608800-70655800	Weak transcription	Esophagus	oesophagus
10	chr1:70609600-70661200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:70610000-70656600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr1:70610000-70667800	Weak transcription	HepG2	liver
13	chr1:70610400-70653600	Weak transcription	Gastric	stomach
14	chr1:70610600-70669600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr1:70611000-70666600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr1:70611200-70670400	Weak transcription	Pancreas	Pancrea
17	chr1:70611400-70652800	Weak transcription	Spleen	Spleen
18	chr1:70612400-70669000	Weak transcription	HUVEC	blood vessel
19	chr1:70613400-70658400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr1:70613600-70657000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr1:70613600-70667800	Weak transcription	Brain Angular Gyrus	brain
22	chr1:70613800-70658000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr1:70614400-70657800	Weak transcription	Fetal Kidney	kidney
24	chr1:70615000-70670000	Weak transcription	NH-A	brain
25	chr1:70615000-70670400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr1:70623000-70656600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr1:70623000-70661600	Weak transcription	K562	blood
28	chr1:70623200-70652000	Weak transcription	Osteobl	bone
29	chr1:70629800-70669600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr1:70632600-70656800	Weak transcription	NHLF	lung
31	chr1:70634000-70670400	Weak transcription	Lung	lung
32	chr1:70634200-70658000	Weak transcription	Brain Germinal Matrix	brain
33	chr1:70634400-70670200	Weak transcription	Fetal Stomach	stomach
34	chr1:70634600-70656800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:70635000-70670600	Weak transcription	Aorta	Aorta
36	chr1:70635400-70656200	Weak transcription	Fetal Heart	heart
37	chr1:70638600-70661400	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr1:70639800-70670200	Weak transcription	Placenta	Placenta
39	chr1:70640600-70654000	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr1:70641400-70652200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:70643000-70652000	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr1:70643600-70652000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr1:70643600-70656600	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr1:70643600-70668600	Weak transcription	Fetal Brain Female	brain
45	chr1:70643800-70653000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:70644000-70656400	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr1:70644000-70668600	Weak transcription	Ovary	ovary
48	chr1:70644200-70656600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:70644400-70669600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:70644800-70669800	Weak transcription	HSMM	muscle

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