Variant report

Variant	rs7808025
Chromosome Location	chr7:50576903-50576904
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10244632	0.87[CHB][hapmap]
rs10249982	0.86[CHB][hapmap]
rs12535064	0.87[CHB][hapmap];0.95[CHD][hapmap]
rs12538830	0.87[CHB][hapmap];0.95[CHD][hapmap]
rs17152020	0.81[CEU][hapmap]
rs1817074	0.86[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs1982406	0.87[CHB][hapmap];1.00[CHD][hapmap]
rs2100280	0.93[CHB][hapmap];0.95[CHD][hapmap]
rs2198144	0.93[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs3735274	0.87[CHB][hapmap];1.00[CHD][hapmap]
rs3779084	0.81[CEU][hapmap];0.80[EUR][1000 genomes]
rs4490786	0.81[CEU][hapmap]
rs4585697	0.93[CHB][hapmap];0.95[CHD][hapmap]
rs4947584	0.93[CHB][hapmap];0.87[CHD][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs58612109	0.94[ASN][1000 genomes]
rs6592961	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6592963	0.93[CHB][hapmap];0.95[CHD][hapmap]
rs7809758	0.93[CHB][hapmap];0.87[CHD][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs880028	0.81[CEU][hapmap];0.80[EUR][1000 genomes]
rs9918702	0.87[CHB][hapmap];0.84[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv888021	chr7:50538589-50610071	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1023228	chr7:50573214-50777634	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50543600-50595000	Weak transcription	Liver	Liver
2	chr7:50560800-50581000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:50565200-50609000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr7:50566200-50581200	Strong transcription	Fetal Intestine Small	intestine
5	chr7:50569000-50592800	Weak transcription	HepG2	liver
6	chr7:50571000-50580200	Weak transcription	Pancreas	Pancrea
7	chr7:50571000-50582400	Weak transcription	Right Atrium	heart
8	chr7:50572400-50577000	Strong transcription	Duodenum Mucosa	Duodenum
9	chr7:50573000-50577000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr7:50575400-50578000	Strong transcription	Fetal Intestine Large	intestine
11	chr7:50575600-50577000	Enhancers	Fetal Muscle Leg	muscle
12	chr7:50575600-50577000	Enhancers	Psoas Muscle	Psoas
13	chr7:50575600-50577200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:50575600-50577200	Enhancers	Fetal Thymus	thymus
15	chr7:50576000-50577000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:50576000-50577000	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr7:50576000-50577000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr7:50576000-50577000	Enhancers	K562	blood
19	chr7:50576000-50577400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:50576600-50580800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr7:50576600-50581000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:50576800-50577400	Enhancers	Skeletal Muscle Female	skeletal muscle

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