Variant report

Variant	rs34385297
Chromosome Location	chr8:121791511-121791512
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs13259820	0.95[EUR][1000 genomes]
rs13269664	0.95[EUR][1000 genomes]
rs34072257	0.95[EUR][1000 genomes]
rs34255801	0.95[EUR][1000 genomes]
rs34392458	1.00[AFR][1000 genomes]
rs34473121	0.95[EUR][1000 genomes]
rs34632392	0.93[EUR][1000 genomes]
rs35201684	0.95[EUR][1000 genomes]
rs35803869	0.95[EUR][1000 genomes]
rs6993049	0.95[EUR][1000 genomes]
rs7010935	0.95[EUR][1000 genomes]
rs7011039	0.95[EUR][1000 genomes]
rs71514722	0.87[EUR][1000 genomes]
rs71514723	1.00[AFR][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:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121770200-121797400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr8:121770200-121798600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr8:121775200-121797400	Weak transcription	Spleen	Spleen
4	chr8:121777400-121796600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr8:121778200-121797200	Weak transcription	Fetal Intestine Small	intestine
6	chr8:121782000-121796600	Weak transcription	Esophagus	oesophagus
7	chr8:121782000-121797600	Weak transcription	Aorta	Aorta
8	chr8:121785000-121793200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr8:121785600-121795200	Enhancers	NHDF-Ad	bronchial
10	chr8:121786000-121792200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr8:121786800-121792800	Enhancers	Stomach Mucosa	stomach
12	chr8:121786800-121796600	Weak transcription	Placenta	Placenta
13	chr8:121787000-121793600	Enhancers	HepG2	liver
14	chr8:121787200-121797400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:121787600-121794400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:121787800-121793000	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr8:121787800-121793200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr8:121787800-121794600	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr8:121788200-121791600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr8:121788200-121792000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:121788200-121794200	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr8:121788400-121791800	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr8:121788400-121792800	Enhancers	Liver	Liver
24	chr8:121788400-121794600	Enhancers	NHLF	lung
25	chr8:121788600-121791800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr8:121788600-121793200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr8:121788600-121794200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr8:121788600-121794400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr8:121788800-121791600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr8:121788800-121792200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:121788800-121793200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr8:121788800-121793400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:121788800-121794200	Enhancers	Muscle Satellite Cultured Cells	--
34	chr8:121788800-121794200	Enhancers	HSMM	muscle
35	chr8:121789000-121792600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr8:121789000-121793200	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr8:121789000-121793600	Enhancers	HSMMtube	muscle
38	chr8:121789000-121793600	Enhancers	HUVEC	blood vessel
39	chr8:121789000-121793800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:121789000-121793800	Enhancers	NH-A	brain
41	chr8:121789000-121794400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr8:121789000-121797400	Weak transcription	Primary B cells from cord blood	blood
43	chr8:121789000-121797800	Weak transcription	Thymus	Thymus
44	chr8:121789200-121792400	Enhancers	Osteobl	bone
45	chr8:121789200-121792800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr8:121789400-121794400	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr8:121789600-121793600	Enhancers	Hela-S3	cervix
48	chr8:121789800-121793400	Enhancers	Primary hematopoietic stem cells	blood
49	chr8:121790000-121792600	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr8:121790000-121794600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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