Variant report

Variant	rs11769919
Chromosome Location	chr7:80108839-80108840
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10216027	0.93[ASN][1000 genomes]
rs10269301	0.93[ASN][1000 genomes]
rs10273230	0.93[ASN][1000 genomes]
rs10276559	0.93[ASN][1000 genomes]
rs10279893	0.89[ASN][1000 genomes]
rs10280109	0.93[ASN][1000 genomes]
rs12535970	0.98[ASN][1000 genomes]
rs12536759	0.93[ASN][1000 genomes]
rs12666914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17154074	0.83[ASN][1000 genomes]
rs17154083	0.83[ASN][1000 genomes]
rs17154086	0.83[ASN][1000 genomes]
rs2177617	0.83[ASN][1000 genomes]
rs34193549	0.87[ASN][1000 genomes]
rs59229896	0.83[ASN][1000 genomes]
rs59419187	0.98[ASN][1000 genomes]
rs6467212	0.98[ASN][1000 genomes]
rs6946786	0.83[ASN][1000 genomes]
rs6961082	0.92[EUR][1000 genomes]
rs6970260	0.83[ASN][1000 genomes]
rs73709182	0.93[ASN][1000 genomes]
rs73709192	0.83[ASN][1000 genomes]
rs73709197	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
8	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80096800-80113000	Enhancers	Hela-S3	cervix
2	chr7:80099600-80109600	Weak transcription	NH-A	brain
3	chr7:80102400-80110000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr7:80102400-80110000	Weak transcription	Left Ventricle	heart
5	chr7:80103200-80110000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr7:80104600-80110200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr7:80106000-80110000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:80106000-80110200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr7:80106200-80110000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr7:80107400-80109600	Weak transcription	Adipose Nuclei	Adipose
11	chr7:80107400-80109800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:80107400-80110200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr7:80107400-80112200	Weak transcription	Right Atrium	heart
14	chr7:80107600-80111600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:80108200-80109400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr7:80108400-80109400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:80108400-80109400	Weak transcription	HMEC	breast
18	chr7:80108400-80109600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:80108400-80109800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:80108400-80109800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:80108400-80109800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:80108400-80109800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:80108400-80109800	Weak transcription	A549	lung
24	chr7:80108400-80110000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr7:80108400-80110000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:80108400-80110200	Weak transcription	Osteobl	bone
27	chr7:80108400-80116200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr7:80108600-80109600	Weak transcription	NHEK	skin
29	chr7:80108600-80110200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr7:80108600-80110200	Enhancers	Placenta	Placenta
31	chr7:80108600-80110400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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