Variant report

Variant	rs11575506
Chromosome Location	chr7:50536495-50536496
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	chr7:50534464..50537080-chr7:50740963..50742721,2	K562	blood:
2	chr7:50530045..50531842-chr7:50534711..50537256,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1007702	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1007749	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11575280	1.00[MEX][hapmap];0.87[AMR][1000 genomes]
rs11575332	1.00[EUR][1000 genomes]
rs11575359	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11575400	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11575413	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11575424	1.00[AMR][1000 genomes]
rs11575425	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12531158	0.81[AMR][1000 genomes]
rs12535024	1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1451370	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17665398	1.00[ASW][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17665588	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17665670	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1817073	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1868886	0.81[AMR][1000 genomes]
rs3735276	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3779075	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3779076	1.00[MEX][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4947511	0.81[AMR][1000 genomes]
rs4947576	1.00[AMR][1000 genomes]
rs4947580	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4947594	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4947634	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4948010	0.81[AMR][1000 genomes]
rs4948197	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4948201	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4948216	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6592962	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6951323	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6952938	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6953661	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6958793	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6959596	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6976009	0.81[AMR][1000 genomes]
rs731689	0.90[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7792474	1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7800887	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv1026081	chr7:50525900-50538184	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50535400-50536600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:50535600-50536600	Enhancers	Esophagus	oesophagus
3	chr7:50535800-50539000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr7:50535800-50540800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr7:50535800-50546800	Weak transcription	Pancreas	Pancrea
6	chr7:50535800-50553200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:50536000-50536600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
8	chr7:50536000-50542800	Weak transcription	Colonic Mucosa	Colon
9	chr7:50536200-50536600	Enhancers	Brain Anterior Caudate	brain
10	chr7:50536200-50541400	Weak transcription	HepG2	liver
11	chr7:50536200-50542200	Strong transcription	Fetal Intestine Small	intestine
12	chr7:50536200-50545400	Weak transcription	Right Atrium	heart
13	chr7:50536400-50536600	Enhancers	Ovary	ovary
14	chr7:50536400-50537800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr7:50536400-50541400	Weak transcription	Colon Smooth Muscle	Colon
16	chr7:50536400-50541600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr7:50536400-50541800	Strong transcription	Fetal Intestine Large	intestine

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