Variant report

Variant	rs6956237
Chromosome Location	chr7:120635931-120635932
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:120635913..120636486-chr7:120747716..120748711,2	K562	blood:
2	chr7:120621518..120649031-chr7:120712706..120728931,108	K562	blood:
3	chr7:120624020..120645873-chr7:120713358..120727138,77	K562	blood:

Variant related genes	Relation type
ENSG00000212628	Chromatin interaction
ENSG00000106034	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10245939	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10257314	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10277935	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1080807	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10953923	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1118142	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12706305	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12706306	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17535702	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1981711	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2058501	0.85[EUR][1000 genomes]
rs6944789	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6949989	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6958635	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6960415	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7782552	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831114	chr7:120595624-120804510	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv608327	chr7:120633006-120873078	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv2753621	chr7:120635049-120800049	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120630000-120636400	Weak transcription	HMEC	breast
2	chr7:120630200-120636200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:120630200-120636200	Weak transcription	Placenta	Placenta
4	chr7:120631200-120640400	Weak transcription	Brain Anterior Caudate	brain
5	chr7:120631400-120636200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr7:120632000-120636400	Weak transcription	Hela-S3	cervix
7	chr7:120632200-120636600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:120632400-120641400	Transcr. at gene 5' and 3'	K562	blood
9	chr7:120633000-120636600	Weak transcription	HSMMtube	muscle
10	chr7:120633000-120636800	Enhancers	Liver	Liver
11	chr7:120633000-120636800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr7:120633200-120636400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:120633600-120636200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:120633600-120636200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:120633600-120636200	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr7:120633600-120636600	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr7:120633600-120636800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr7:120634000-120636200	Weak transcription	Brain Hippocampus Middle	brain
19	chr7:120634000-120636400	Weak transcription	Stomach Mucosa	stomach
20	chr7:120634000-120637400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:120634200-120636000	Weak transcription	Left Ventricle	heart
22	chr7:120634200-120636200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr7:120634200-120636200	Enhancers	Adipose Nuclei	Adipose
24	chr7:120634200-120636200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr7:120634200-120636200	Weak transcription	Fetal Lung	lung
26	chr7:120634200-120636200	Weak transcription	Fetal Muscle Leg	muscle
27	chr7:120634200-120636200	Weak transcription	Psoas Muscle	Psoas
28	chr7:120634200-120636800	Weak transcription	NH-A	brain
29	chr7:120634200-120644000	Weak transcription	Spleen	Spleen
30	chr7:120634600-120636200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr7:120634600-120636600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:120634600-120638400	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr7:120634800-120636200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr7:120634800-120636200	Weak transcription	Right Ventricle	heart
35	chr7:120634800-120636200	Weak transcription	Osteobl	bone
36	chr7:120634800-120636800	Weak transcription	Right Atrium	heart
37	chr7:120634800-120636800	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr7:120634800-120637000	Weak transcription	Stomach Smooth Muscle	stomach
39	chr7:120634800-120637200	Weak transcription	NHLF	lung
40	chr7:120634800-120637800	Enhancers	Primary hematopoietic stem cells	blood
41	chr7:120635000-120636200	Weak transcription	Fetal Heart	heart
42	chr7:120635000-120636200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr7:120635000-120636400	Weak transcription	Small Intestine	intestine
44	chr7:120635000-120636600	Weak transcription	Fetal Kidney	kidney
45	chr7:120635000-120637400	Enhancers	Aorta	Aorta
46	chr7:120635000-120640800	Enhancers	Dnd41	blood
47	chr7:120635200-120636000	Weak transcription	Fetal Stomach	stomach
48	chr7:120635200-120636800	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr7:120635200-120637200	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr7:120635200-120637200	Enhancers	Primary T killer memory cells from peripheral blood	blood

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