Variant report

Variant	rs6985457
Chromosome Location	chr8:121818213-121818214
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11997726	0.81[AFR][1000 genomes]
rs12547700	0.86[ASN][1000 genomes]
rs59751654	0.86[ASN][1000 genomes]
rs60638930	0.84[ASN][1000 genomes]
rs6985486	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6985550	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6990988	0.81[AFR][1000 genomes]
rs73707131	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016172	chr8:121679590-121929916	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv891422	chr8:121680857-121819478	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2757289	chr8:121765701-121828919	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2759640	chr8:121765701-121828919	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121798600-121819400	Weak transcription	Fetal Stomach	stomach
2	chr8:121799000-121820800	Weak transcription	Aorta	Aorta
3	chr8:121799200-121819600	Weak transcription	Lung	lung
4	chr8:121799400-121820800	Weak transcription	Fetal Intestine Small	intestine
5	chr8:121801600-121820400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:121804800-121820800	Weak transcription	Fetal Intestine Large	intestine
7	chr8:121805600-121821200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr8:121806800-121819800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:121808200-121820600	Weak transcription	HSMM	muscle
10	chr8:121809000-121820400	Weak transcription	NHLF	lung
11	chr8:121809000-121820600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr8:121811400-121820800	Weak transcription	Left Ventricle	heart
13	chr8:121813000-121820600	Weak transcription	Adipose Nuclei	Adipose
14	chr8:121813600-121820600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:121814600-121820400	Genic enhancers	HepG2	liver
16	chr8:121814600-121820600	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr8:121815000-121819800	Enhancers	Liver	Liver
18	chr8:121815000-121822800	Weak transcription	Small Intestine	intestine
19	chr8:121815200-121818400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr8:121815400-121820400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr8:121815600-121820800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr8:121816000-121819200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr8:121816000-121819600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr8:121816000-121819600	Weak transcription	Fetal Muscle Leg	muscle
25	chr8:121816000-121820800	Weak transcription	NHDF-Ad	bronchial
26	chr8:121816200-121820600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:121816600-121819800	Weak transcription	Fetal Kidney	kidney
28	chr8:121816800-121819600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:121816800-121819800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr8:121816800-121820000	Weak transcription	Primary T cells from cord blood	blood
31	chr8:121816800-121820600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr8:121817000-121818400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr8:121817000-121818400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr8:121817000-121818400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr8:121817200-121818400	Weak transcription	Pancreas	Pancrea
36	chr8:121817200-121819000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr8:121817200-121819000	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr8:121817200-121819200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr8:121817200-121819200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr8:121817200-121819400	Weak transcription	Primary B cells from cord blood	blood
41	chr8:121817200-121819400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr8:121817200-121819800	Weak transcription	Primary B cells from peripheral blood	blood
43	chr8:121817200-121820800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr8:121817200-121820800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr8:121817200-121820800	Weak transcription	HSMMtube	muscle
46	chr8:121817200-121821200	Weak transcription	Psoas Muscle	Psoas
47	chr8:121817200-121822000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr8:121817400-121819200	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr8:121817400-121820600	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr8:121817600-121818600	Strong transcription	Primary T cells fromperipheralblood	blood

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