Variant report

Variant	rs61635288
Chromosome Location	chr7:50782059-50782060
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:50781516..50783338-chr7:50785082..50786881,2	K562	blood:
2	chr7:50772725..50774858-chr7:50781132..50783055,2	K562	blood:
3	chr7:50780419..50783049-chr7:50792593..50795641,3	K562	blood:
4	chr7:50781098..50783025-chr7:50791661..50794093,2	K562	blood:

Variant related genes	Relation type
ENSG00000106070	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10225052	0.81[AMR][1000 genomes]
rs10275663	0.81[AMR][1000 genomes]
rs17133984	0.89[AMR][1000 genomes]
rs2108351	0.89[AMR][1000 genomes]
rs2158918	0.89[AMR][1000 genomes]
rs2529398	0.89[AMR][1000 genomes]
rs2529401	0.89[AMR][1000 genomes]
rs2529406	0.89[AMR][1000 genomes]
rs2715099	0.89[AMR][1000 genomes]
rs2715101	0.89[AMR][1000 genomes]
rs2715106	0.89[AMR][1000 genomes]
rs2715122	0.89[AMR][1000 genomes]
rs2715124	0.89[AMR][1000 genomes]
rs2715136	0.89[AMR][1000 genomes]
rs2715137	0.89[AMR][1000 genomes]
rs28758301	0.81[AMR][1000 genomes]
rs6968670	0.81[AMR][1000 genomes]
rs73349045	0.90[AMR][1000 genomes]
rs962507	0.81[AMR][1000 genomes]
rs9656698	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1031138	chr7:50651793-50814881	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 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	chr7:50742600-50792000	Weak transcription	Primary T cells from cord blood	blood
2	chr7:50763400-50806800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:50766400-50783200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:50766400-50785800	Weak transcription	Small Intestine	intestine
5	chr7:50772000-50791600	Weak transcription	K562	blood
6	chr7:50773000-50789200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:50773000-50807400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:50773600-50788600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr7:50773800-50786600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr7:50774600-50782400	Weak transcription	HMEC	breast
11	chr7:50774800-50789200	Weak transcription	NHLF	lung
12	chr7:50776400-50786000	Weak transcription	HUVEC	blood vessel
13	chr7:50777600-50792600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr7:50778400-50784000	Enhancers	Left Ventricle	heart
15	chr7:50778400-50789000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr7:50778600-50785600	Weak transcription	Fetal Intestine Small	intestine
17	chr7:50778800-50782400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr7:50778800-50783000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:50778800-50786800	Enhancers	Right Atrium	heart
20	chr7:50779200-50782600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr7:50779400-50782600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:50779400-50783200	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr7:50779400-50786000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr7:50780200-50782400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:50780400-50782200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:50780400-50782400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:50780400-50786200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr7:50780400-50788400	Enhancers	Pancreas	Pancrea
29	chr7:50780600-50782400	Weak transcription	Duodenum Mucosa	Duodenum
30	chr7:50780600-50784400	Weak transcription	Brain Substantia Nigra	brain
31	chr7:50780600-50786400	Weak transcription	Osteobl	bone
32	chr7:50780600-50786600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:50780600-50795000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:50780600-50807600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr7:50780800-50782400	Weak transcription	NH-A	brain
36	chr7:50780800-50782800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr7:50780800-50785400	Weak transcription	Adipose Nuclei	Adipose
38	chr7:50780800-50801400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr7:50781000-50782400	Weak transcription	A549	lung
40	chr7:50781000-50782400	Weak transcription	Hela-S3	cervix
41	chr7:50781000-50784400	Weak transcription	Primary hematopoietic stem cells	blood
42	chr7:50781000-50786000	Weak transcription	Brain Angular Gyrus	brain
43	chr7:50781000-50786400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr7:50781000-50787200	Enhancers	Lung	lung
45	chr7:50781000-50794800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr7:50781200-50782400	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr7:50781200-50782400	Weak transcription	HSMM	muscle
48	chr7:50781200-50783200	Weak transcription	Fetal Stomach	stomach
49	chr7:50781200-50783400	Enhancers	Placenta	Placenta
50	chr7:50781200-50784600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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