Variant report

Variant	rs11575381
Chromosome Location	chr7:50570687-50570688
allele	A/G
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: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10499693	1.00[EUR][1000 genomes]
rs11575293	1.00[EUR][1000 genomes]
rs11575302	1.00[EUR][1000 genomes]
rs11575340	1.00[EUR][1000 genomes]
rs11575343	1.00[EUR][1000 genomes]
rs11575360	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11575385	1.00[EUR][1000 genomes]
rs11575407	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11575447	1.00[EUR][1000 genomes]
rs11575493	1.00[EUR][1000 genomes]
rs11575494	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11575501	1.00[EUR][1000 genomes]
rs11575502	1.00[EUR][1000 genomes]
rs11575503	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11575504	1.00[EUR][1000 genomes]
rs11575505	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11575507	1.00[EUR][1000 genomes]
rs11575508	1.00[EUR][1000 genomes]
rs11575510	1.00[EUR][1000 genomes]
rs11575511	1.00[EUR][1000 genomes]
rs11575512	1.00[EUR][1000 genomes]
rs11575514	1.00[EUR][1000 genomes]
rs11575518	1.00[EUR][1000 genomes]
rs11575519	1.00[EUR][1000 genomes]
rs11575522	1.00[EUR][1000 genomes]
rs11575523	1.00[EUR][1000 genomes]
rs11575527	1.00[EUR][1000 genomes]
rs11575537	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11575540	1.00[EUR][1000 genomes]
rs11575542	1.00[EUR][1000 genomes]
rs11575543	1.00[EUR][1000 genomes]
rs11575546	1.00[EUR][1000 genomes]
rs11575547	1.00[EUR][1000 genomes]
rs11575549	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11978797	0.92[EUR][1000 genomes]
rs11981575	1.00[EUR][1000 genomes]
rs11982708	1.00[EUR][1000 genomes]
rs11982772	1.00[EUR][1000 genomes]
rs11982776	0.92[EUR][1000 genomes]
rs11983581	1.00[EUR][1000 genomes]
rs11983757	1.00[EUR][1000 genomes]
rs12112308	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12113897	0.84[EUR][1000 genomes]
rs2329370	1.00[EUR][1000 genomes]
rs3173669	0.92[EUR][1000 genomes]
rs55869201	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55992615	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56030652	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57167849	0.92[EUR][1000 genomes]
rs57835901	1.00[EUR][1000 genomes]
rs59150746	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59828622	0.92[EUR][1000 genomes]
rs6956737	1.00[EUR][1000 genomes]
rs6975312	1.00[EUR][1000 genomes]
rs6978556	0.92[EUR][1000 genomes]
rs73695512	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73695638	0.84[EUR][1000 genomes]
rs73695639	0.92[EUR][1000 genomes]
rs73695640	0.92[EUR][1000 genomes]
rs73695641	0.92[EUR][1000 genomes]
rs73695643	0.92[EUR][1000 genomes]
rs73695661	0.92[EUR][1000 genomes]
rs73695664	0.92[EUR][1000 genomes]
rs73695666	0.92[EUR][1000 genomes]
rs73695667	0.92[EUR][1000 genomes]
rs73695668	0.92[EUR][1000 genomes]
rs73695669	0.92[EUR][1000 genomes]
rs73695670	0.92[EUR][1000 genomes]
rs73695671	0.92[EUR][1000 genomes]
rs73695672	0.92[EUR][1000 genomes]
rs73695673	0.92[EUR][1000 genomes]
rs73695681	1.00[EUR][1000 genomes]
rs73695682	1.00[EUR][1000 genomes]
rs73695683	1.00[EUR][1000 genomes]
rs73695684	1.00[EUR][1000 genomes]
rs73695700	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73695701	1.00[EUR][1000 genomes]
rs73695702	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73697528	1.00[EUR][1000 genomes]
rs73697574	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs930707	1.00[EUR][1000 genomes]
rs9942578	0.92[EUR][1000 genomes]

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:54 , 50 per page) page: 1 2

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	chr7:50569600-50570800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:50569600-50571200	Enhancers	Fetal Stomach	stomach
17	chr7:50569600-50571200	Enhancers	Rectal Smooth Muscle	rectum
18	chr7:50569800-50570800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr7:50569800-50570800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:50569800-50570800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr7:50569800-50570800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:50569800-50570800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr7:50569800-50570800	Enhancers	HUVEC	blood vessel
24	chr7:50569800-50570800	Enhancers	NHDF-Ad	bronchial
25	chr7:50569800-50570800	Enhancers	NHEK	skin
26	chr7:50569800-50571000	Enhancers	Aorta	Aorta
27	chr7:50569800-50571000	Enhancers	Fetal Lung	lung
28	chr7:50569800-50571000	Enhancers	Right Atrium	heart
29	chr7:50569800-50571000	Enhancers	Osteobl	bone
30	chr7:50569800-50571200	Enhancers	Fetal Muscle Trunk	muscle
31	chr7:50569800-50571200	Enhancers	Ovary	ovary
32	chr7:50569800-50571200	Enhancers	HSMMtube	muscle
33	chr7:50570000-50570800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr7:50570000-50570800	Flanking Active TSS	Stomach Smooth Muscle	stomach
35	chr7:50570000-50571000	Enhancers	Left Ventricle	heart
36	chr7:50570000-50571000	Enhancers	Pancreas	Pancrea
37	chr7:50570000-50571000	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr7:50570000-50571200	Enhancers	Adipose Nuclei	Adipose
39	chr7:50570000-50571200	Enhancers	NHLF	lung
40	chr7:50570200-50570800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr7:50570200-50570800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr7:50570200-50570800	Enhancers	Lung	lung
43	chr7:50570200-50570800	Enhancers	Stomach Mucosa	stomach
44	chr7:50570200-50571200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr7:50570200-50571200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr7:50570400-50570800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr7:50570400-50570800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:50570400-50570800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr7:50570400-50571000	Enhancers	Hela-S3	cervix
50	chr7:50570400-50571000	Flanking Active TSS	HSMM	muscle

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