Variant report

Variant	rs6887580
Chromosome Location	chr5:79769744-79769745
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	chr5:79767836..79769393-chr5:79769417..79771117,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs6868804	1.00[AFR][1000 genomes]
rs6868979	0.87[AFR][1000 genomes]
rs6870486	1.00[AFR][1000 genomes]
rs6874666	1.00[AFR][1000 genomes]
rs6895542	1.00[AFR][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	nsv948807	chr5:79549207-79805765	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription 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 miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1028027	chr5:79694699-79841752	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79733400-79782600	Weak transcription	NHLF	lung
2	chr5:79744800-79783200	Weak transcription	Colonic Mucosa	Colon
3	chr5:79757000-79770000	Weak transcription	NHDF-Ad	bronchial
4	chr5:79759400-79775000	Weak transcription	Hela-S3	cervix
5	chr5:79759400-79778800	Weak transcription	Small Intestine	intestine
6	chr5:79759400-79779200	Weak transcription	Lung	lung
7	chr5:79759400-79782800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr5:79763000-79769800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:79763200-79772400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr5:79763200-79779600	Weak transcription	Gastric	stomach
11	chr5:79763400-79775200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr5:79764000-79771400	Strong transcription	Brain Angular Gyrus	brain
13	chr5:79764200-79775200	Weak transcription	HMEC	breast
14	chr5:79764400-79770200	Weak transcription	HepG2	liver
15	chr5:79764800-79771800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:79764800-79772000	Strong transcription	Left Ventricle	heart
17	chr5:79765000-79776000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr5:79765400-79770800	Weak transcription	Psoas Muscle	Psoas
19	chr5:79765600-79769800	Weak transcription	Brain Hippocampus Middle	brain
20	chr5:79765600-79770400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr5:79765600-79783400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr5:79766600-79770400	Weak transcription	Fetal Thymus	thymus
23	chr5:79766600-79770400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr5:79766600-79770600	Weak transcription	Fetal Brain Male	brain
25	chr5:79766600-79770600	Weak transcription	NHEK	skin
26	chr5:79766600-79771800	Weak transcription	Fetal Stomach	stomach
27	chr5:79766600-79772600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr5:79766600-79773400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr5:79766600-79774400	Weak transcription	Right Ventricle	heart
30	chr5:79766600-79775000	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr5:79766600-79778000	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr5:79766600-79779400	Weak transcription	Pancreas	Pancrea
33	chr5:79766600-79782600	Weak transcription	Fetal Heart	heart
34	chr5:79766600-79783400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr5:79766800-79769800	Weak transcription	Brain Germinal Matrix	brain
36	chr5:79766800-79770800	Weak transcription	Colon Smooth Muscle	Colon
37	chr5:79766800-79771800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr5:79766800-79782400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr5:79766800-79782800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr5:79767000-79770400	Strong transcription	Liver	Liver
41	chr5:79767200-79771400	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr5:79767200-79772200	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr5:79767200-79780000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr5:79767400-79771600	Strong transcription	Duodenum Mucosa	Duodenum
45	chr5:79767400-79772000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr5:79767400-79772400	Strong transcription	Fetal Intestine Large	intestine
47	chr5:79767600-79769800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr5:79767600-79771800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr5:79767600-79771800	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr5:79767600-79772200	Strong transcription	Adipose Nuclei	Adipose

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