Variant report

Variant	rs34072257
Chromosome Location	chr8:121796512-121796513
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:121794712..121796802-chr8:121833673..121835489,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs13259820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13269664	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34255801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34385297	0.95[EUR][1000 genomes]
rs34473121	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34632392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35201684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35803869	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57849838	0.91[AFR][1000 genomes]
rs59370568	0.91[AFR][1000 genomes]
rs59536599	0.91[AFR][1000 genomes]
rs59760493	0.91[AFR][1000 genomes]
rs61168588	0.91[AFR][1000 genomes]
rs6993049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7010935	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7011039	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71514722	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7463542	0.91[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:60 , 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	chr8:121786800-121796600	Weak transcription	Placenta	Placenta
9	chr8:121787200-121797400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:121789000-121797400	Weak transcription	Primary B cells from cord blood	blood
11	chr8:121789000-121797800	Weak transcription	Thymus	Thymus
12	chr8:121790400-121797200	Weak transcription	Right Atrium	heart
13	chr8:121790400-121797600	Weak transcription	Gastric	stomach
14	chr8:121790800-121797600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr8:121791200-121797200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr8:121791400-121796600	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr8:121791400-121796600	Weak transcription	Fetal Muscle Leg	muscle
18	chr8:121791400-121797400	Weak transcription	Fetal Stomach	stomach
19	chr8:121792200-121798200	Weak transcription	Pancreas	Pancrea
20	chr8:121792600-121797400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr8:121793000-121796800	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr8:121793400-121796600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:121793400-121796600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr8:121793400-121796600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr8:121793600-121796600	Weak transcription	HSMMtube	muscle
26	chr8:121793600-121797400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr8:121793800-121797400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:121793800-121797400	Weak transcription	NH-A	brain
29	chr8:121793800-121799000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr8:121794000-121797200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:121794200-121796600	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr8:121794200-121796800	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr8:121794200-121796800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr8:121794200-121797000	Weak transcription	HSMM	muscle
35	chr8:121794200-121797200	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr8:121794200-121797600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr8:121794200-121798600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr8:121794400-121796600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr8:121794400-121796600	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr8:121794400-121796600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr8:121794400-121796600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr8:121794400-121796800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr8:121794400-121797000	Weak transcription	Osteobl	bone
44	chr8:121794400-121797200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr8:121794400-121798000	Weak transcription	Primary T cells from cord blood	blood
46	chr8:121794600-121796600	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr8:121794600-121797000	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr8:121794600-121797600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr8:121795000-121799200	Enhancers	Liver	Liver
50	chr8:121795200-121796600	Weak transcription	NHDF-Ad	bronchial

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