Variant report

Variant	rs6960247
Chromosome Location	chr7:80101213-80101214
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:80096464..80097970-chr7:80098984..80101525,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11973868	1.00[ASN][1000 genomes]
rs11983825	0.97[ASN][1000 genomes]
rs17154004	1.00[ASN][1000 genomes]
rs17154059	0.90[ASN][1000 genomes]
rs6961082	0.92[AFR][1000 genomes]
rs6966209	0.97[ASN][1000 genomes]
rs73369025	0.97[ASN][1000 genomes]
rs73386759	1.00[ASN][1000 genomes]
rs7796785	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429785	chr7:79589749-80177049	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv831042	chr7:79984079-80122312	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1030961	chr7:80032525-80197468	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv538991	chr7:80032525-80197468	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv949205	chr7:80039695-80211200	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv888523	chr7:80088592-80142217	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv607680	chr7:80097576-80142217	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80095600-80106800	Weak transcription	Right Atrium	heart
2	chr7:80096600-80102400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:80096800-80101600	Weak transcription	Small Intestine	intestine
4	chr7:80096800-80102000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:80096800-80102000	Weak transcription	Liver	Liver
6	chr7:80096800-80102000	Weak transcription	HepG2	liver
7	chr7:80096800-80113000	Enhancers	Hela-S3	cervix
8	chr7:80097000-80101400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:80097200-80101600	Weak transcription	A549	lung
10	chr7:80098600-80101400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:80099600-80109600	Weak transcription	NH-A	brain
12	chr7:80100600-80102200	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr7:80100800-80102600	Enhancers	Fetal Intestine Small	intestine
14	chr7:80100800-80103600	Enhancers	Fetal Intestine Large	intestine
15	chr7:80101000-80101400	Flanking Active TSS	Duodenum Mucosa	Duodenum
16	chr7:80101000-80101800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr7:80101000-80101800	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr7:80101000-80102200	Enhancers	Fetal Heart	heart
19	chr7:80101200-80101400	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr7:80101200-80101400	Enhancers	Fetal Kidney	kidney
21	chr7:80101200-80101600	Weak transcription	Left Ventricle	heart
22	chr7:80101200-80101800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:80101200-80102600	Enhancers	Skeletal Muscle Female	skeletal muscle

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