Variant report

Variant	rs6975747
Chromosome Location	chr7:50576788-50576789
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]
rs10268819	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10499696	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575298	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575300	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575301	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575342	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575404	1.00[ASN][1000 genomes]
rs11575429	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11765109	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11771818	0.82[EUR][1000 genomes]
rs12718611	0.92[EUR][1000 genomes]
rs1466163	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17553791	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2167368	1.00[ASN][1000 genomes]
rs6593002	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6952381	1.00[ASN][1000 genomes]
rs6975015	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73342846	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7785984	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7809234	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

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:25 , 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	chr7:50575600-50576800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:50575600-50576800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr7:50575600-50577000	Enhancers	Fetal Muscle Leg	muscle
14	chr7:50575600-50577000	Enhancers	Psoas Muscle	Psoas
15	chr7:50575600-50577200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:50575600-50577200	Enhancers	Fetal Thymus	thymus
17	chr7:50575800-50576800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:50576000-50576800	Enhancers	Colonic Mucosa	Colon
19	chr7:50576000-50577000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:50576000-50577000	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr7:50576000-50577000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr7:50576000-50577000	Enhancers	K562	blood
23	chr7:50576000-50577400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:50576600-50580800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr7:50576600-50581000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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