Variant report

Variant	rs6947066
Chromosome Location	chr7:101679441-101679442
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	chr7:101677836..101679461-chr7:101681645..101683380,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11769397	0.84[CEU][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17409879	0.85[CEU][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28421615	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28499493	0.85[EUR][1000 genomes]
rs28674697	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62465573	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62465574	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7804034	0.85[CEU][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7804339	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020372	chr7:101420819-101718950	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv482846	chr7:101539981-101707666	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv482521	chr7:101604002-101718950	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv831080	chr7:101629121-101718950	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1027574	chr7:101654060-101718950	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101642800-101697600	Weak transcription	Primary B cells from cord blood	blood
2	chr7:101648200-101681400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr7:101648200-101688000	Weak transcription	Ovary	ovary
4	chr7:101652400-101683200	Weak transcription	Right Ventricle	heart
5	chr7:101652800-101688400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr7:101653000-101688200	Weak transcription	Colonic Mucosa	Colon
7	chr7:101653200-101685200	Weak transcription	HSMMtube	muscle
8	chr7:101656000-101682800	Weak transcription	Psoas Muscle	Psoas
9	chr7:101656000-101689200	Weak transcription	Aorta	Aorta
10	chr7:101656800-101681400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr7:101657000-101681400	Weak transcription	Osteobl	bone
12	chr7:101665600-101688000	Weak transcription	Brain Angular Gyrus	brain
13	chr7:101666600-101681400	Weak transcription	NHLF	lung
14	chr7:101667200-101688200	Weak transcription	Brain Substantia Nigra	brain
15	chr7:101667600-101685200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr7:101667600-101685200	Weak transcription	NH-A	brain
17	chr7:101667600-101688000	Weak transcription	Brain Anterior Caudate	brain
18	chr7:101667600-101688000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr7:101667600-101688200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr7:101667600-101688400	Weak transcription	Fetal Brain Female	brain
21	chr7:101668000-101707200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr7:101668200-101682600	Weak transcription	Left Ventricle	heart
23	chr7:101668200-101683200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr7:101668200-101688000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr7:101668600-101694200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr7:101668800-101682600	Weak transcription	Right Atrium	heart
27	chr7:101670400-101681400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:101671800-101688000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr7:101671800-101688400	Weak transcription	Fetal Brain Male	brain
30	chr7:101672000-101681200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:101672000-101683000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr7:101672000-101685200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:101672000-101685400	Weak transcription	NHEK	skin
34	chr7:101672000-101688000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr7:101672200-101685200	Weak transcription	A549	lung
36	chr7:101672200-101688000	Weak transcription	Primary B cells from peripheral blood	blood
37	chr7:101672200-101692200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr7:101672200-101697000	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr7:101672400-101685200	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr7:101672400-101694000	Weak transcription	Primary T cells from cord blood	blood
41	chr7:101672400-101697200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:101673000-101683400	Weak transcription	K562	blood
43	chr7:101673000-101687800	Weak transcription	Fetal Lung	lung
44	chr7:101673000-101688200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr7:101673000-101689200	Weak transcription	Spleen	Spleen
46	chr7:101673200-101681400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:101673200-101681800	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr7:101673200-101682400	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr7:101673200-101682800	Weak transcription	Liver	Liver
50	chr7:101673200-101683000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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