Variant report

Variant	rs11575375
Chromosome Location	chr7:50571779-50571780
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50570130..50572623-chr7:50573822..50576522,2	K562	blood:
2	chr7:50565140..50566781-chr7:50570058..50572270,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1037351	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1817074	0.93[EUR][1000 genomes]
rs2167364	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2198144	0.93[EUR][1000 genomes]
rs3779084	0.94[ASN][1000 genomes]
rs4947584	0.99[EUR][1000 genomes]
rs58612109	0.94[EUR][1000 genomes]
rs7809758	0.93[EUR][1000 genomes]
rs880028	0.94[ASN][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:34 , 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	chr7:50568200-50574400	Enhancers	Fetal Muscle Leg	muscle
9	chr7:50569000-50592800	Weak transcription	HepG2	liver
10	chr7:50569400-50572000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:50570600-50572200	Enhancers	Psoas Muscle	Psoas
12	chr7:50570600-50572400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:50570600-50572800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:50570800-50571800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:50570800-50572000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr7:50570800-50572200	Weak transcription	Lung	lung
17	chr7:50570800-50573000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:50570800-50576200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:50571000-50572200	Weak transcription	Left Ventricle	heart
20	chr7:50571000-50573200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr7:50571000-50573200	Enhancers	HSMM	muscle
22	chr7:50571000-50576000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr7:50571000-50580200	Weak transcription	Pancreas	Pancrea
24	chr7:50571000-50582400	Weak transcription	Right Atrium	heart
25	chr7:50571200-50572400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:50571200-50572400	Weak transcription	Adipose Nuclei	Adipose
27	chr7:50571200-50572400	Weak transcription	Fetal Stomach	stomach
28	chr7:50571200-50572600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr7:50571200-50572600	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr7:50571200-50572600	Weak transcription	HSMMtube	muscle
31	chr7:50571200-50573000	Weak transcription	Rectal Smooth Muscle	rectum
32	chr7:50571200-50576000	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr7:50571400-50572400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr7:50571400-50572400	Weak transcription	Duodenum Mucosa	Duodenum

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