Variant report

Variant	rs7791875
Chromosome Location	chr7:50570888-50570889
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:50570130..50572623-chr7:50573822..50576522,2	K562	blood:
2	chr7:50569843..50571376-chr7:50579895..50581810,2	K562	blood:
3	chr7:50565140..50566781-chr7:50570058..50572270,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1037351	0.82[JPT][hapmap]
rs1137337	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11575372	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11575383	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11575387	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11575388	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11575422	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11575431	0.93[ASN][1000 genomes]
rs11575434	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11575438	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11575441	0.93[ASN][1000 genomes]
rs11575450	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11575453	1.00[CEU][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11575544	0.92[CEU][hapmap];0.81[TSI][hapmap];0.87[EUR][1000 genomes]
rs11763051	1.00[CHB][hapmap]
rs11771860	1.00[CHB][hapmap]
rs17133842	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs17133853	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17133881	1.00[CHB][hapmap]
rs17152014	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2167363	1.00[CHB][hapmap]
rs2167364	0.82[JPT][hapmap];0.81[MKK][hapmap]
rs2329368	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3779084	0.90[JPT][hapmap]
rs4245549	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs4947631	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs55782136	0.89[EUR][1000 genomes]
rs56069386	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56074624	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56727653	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58024888	0.93[ASN][1000 genomes]
rs58085392	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59239231	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61093871	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62445903	0.91[EUR][1000 genomes]
rs62445905	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6593011	1.00[CHD][hapmap]
rs6951648	0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs72645710	0.93[ASN][1000 genomes]
rs880028	0.90[JPT][hapmap];0.84[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:45 , 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	chr7:50565200-50572600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:50565200-50609000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr7:50566200-50576000	Weak transcription	Colonic Mucosa	Colon
6	chr7:50566200-50581200	Strong transcription	Fetal Intestine Small	intestine
7	chr7:50566400-50572600	Strong transcription	Fetal Intestine Large	intestine
8	chr7:50566800-50571400	Strong transcription	Duodenum Mucosa	Duodenum
9	chr7:50568200-50574400	Enhancers	Fetal Muscle Leg	muscle
10	chr7:50568800-50571400	Enhancers	HMEC	breast
11	chr7:50569000-50592800	Weak transcription	HepG2	liver
12	chr7:50569400-50571000	Enhancers	Primary hematopoietic stem cells	blood
13	chr7:50569400-50571200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:50569400-50572000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:50569600-50571200	Enhancers	Fetal Stomach	stomach
16	chr7:50569600-50571200	Enhancers	Rectal Smooth Muscle	rectum
17	chr7:50569800-50571000	Enhancers	Aorta	Aorta
18	chr7:50569800-50571000	Enhancers	Fetal Lung	lung
19	chr7:50569800-50571000	Enhancers	Right Atrium	heart
20	chr7:50569800-50571000	Enhancers	Osteobl	bone
21	chr7:50569800-50571200	Enhancers	Fetal Muscle Trunk	muscle
22	chr7:50569800-50571200	Enhancers	Ovary	ovary
23	chr7:50569800-50571200	Enhancers	HSMMtube	muscle
24	chr7:50570000-50571000	Enhancers	Left Ventricle	heart
25	chr7:50570000-50571000	Enhancers	Pancreas	Pancrea
26	chr7:50570000-50571000	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr7:50570000-50571200	Enhancers	Adipose Nuclei	Adipose
28	chr7:50570000-50571200	Enhancers	NHLF	lung
29	chr7:50570200-50571200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr7:50570200-50571200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr7:50570400-50571000	Enhancers	Hela-S3	cervix
32	chr7:50570400-50571000	Flanking Active TSS	HSMM	muscle
33	chr7:50570600-50571400	Enhancers	Colon Smooth Muscle	Colon
34	chr7:50570600-50572200	Enhancers	Psoas Muscle	Psoas
35	chr7:50570600-50572400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:50570600-50572800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:50570800-50571000	Enhancers	Stomach Smooth Muscle	stomach
38	chr7:50570800-50571200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:50570800-50571200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr7:50570800-50571400	Enhancers	Muscle Satellite Cultured Cells	--
41	chr7:50570800-50571800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr7:50570800-50572000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr7:50570800-50572200	Weak transcription	Lung	lung
44	chr7:50570800-50573000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:50570800-50576200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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