Variant report

Variant	rs6969628
Chromosome Location	chr7:139554810-139554811
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:139551163..139553403-chr7:139554388..139556915,3	K562	blood:
2	chr7:139547853..139551182-chr7:139551927..139555361,5	K562	blood:
3	chr7:139542430..139544176-chr7:139554608..139557543,2	K562	blood:
4	chr7:139473245..139475405-chr7:139553701..139555890,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10239087	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6651089	0.95[ASN][1000 genomes]
rs9886049	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9886179	1.00[ASN][1000 genomes]
rs9886217	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020234	chr7:139377822-139661964	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032711	chr7:139411404-139684043	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv464732	chr7:139424022-139654256	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv608472	chr7:139424022-139654256	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1018712	chr7:139429703-139658014	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv831156	chr7:139532318-139694326	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139531400-139572600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr7:139541000-139555200	Weak transcription	Thymus	Thymus
3	chr7:139545200-139559800	Weak transcription	Spleen	Spleen
4	chr7:139551400-139555600	Enhancers	HepG2	liver
5	chr7:139551800-139555000	Weak transcription	Placenta	Placenta
6	chr7:139551800-139555400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:139551800-139555600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr7:139551800-139557000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr7:139552200-139555400	Enhancers	K562	blood
10	chr7:139552600-139555000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:139552600-139556000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr7:139553000-139555400	Enhancers	Adipose Nuclei	Adipose
13	chr7:139553000-139557000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr7:139553200-139555200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:139553200-139556200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr7:139553400-139555200	Weak transcription	Stomach Mucosa	stomach
17	chr7:139553400-139555400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr7:139553400-139556000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr7:139553400-139556400	Enhancers	Primary hematopoietic stem cells	blood
20	chr7:139553600-139555200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr7:139553600-139556200	Enhancers	Primary T cells fromperipheralblood	blood
22	chr7:139553600-139556800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr7:139553800-139555200	Weak transcription	Left Ventricle	heart
24	chr7:139553800-139555600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr7:139553800-139556000	Enhancers	Primary T cells from cord blood	blood
26	chr7:139553800-139556000	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr7:139553800-139556200	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr7:139553800-139570400	Weak transcription	Right Atrium	heart
29	chr7:139554000-139555400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr7:139554000-139556000	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr7:139554000-139556000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr7:139554000-139556000	Enhancers	GM12878-XiMat	blood
33	chr7:139554000-139556200	Enhancers	Duodenum Mucosa	Duodenum
34	chr7:139554000-139556200	Enhancers	Fetal Thymus	thymus
35	chr7:139554200-139555200	Weak transcription	Lung	lung
36	chr7:139554200-139555400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr7:139554200-139555600	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr7:139554200-139556000	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr7:139554200-139556200	Enhancers	Primary B cells from peripheral blood	blood
40	chr7:139554400-139556000	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr7:139554400-139561600	Weak transcription	Esophagus	oesophagus
42	chr7:139554600-139555000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr7:139554800-139555200	Enhancers	Primary B cells from cord blood	blood
44	chr7:139554800-139555600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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