Variant report

Variant	rs11561738
Chromosome Location	chr7:65745373-65745374
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11560207	0.83[AMR][1000 genomes]
rs13311614	0.81[EUR][1000 genomes]
rs2859839	0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3823606	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4149458	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4149459	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4149460	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4149462	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4149464	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4149465	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4149466	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58976916	0.83[AMR][1000 genomes]
rs9647880	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv1028692	chr7:65673136-65751069	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv538908	chr7:65673136-65751069	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv508458	chr7:65724222-65842639	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv1034195	chr7:65743409-65828266	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65704400-65746800	Weak transcription	Pancreas	Pancrea
2	chr7:65732000-65746800	Weak transcription	Aorta	Aorta
3	chr7:65732600-65746600	Weak transcription	Liver	Liver
4	chr7:65733200-65746800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr7:65734000-65746800	Weak transcription	Esophagus	oesophagus
6	chr7:65736400-65747600	Weak transcription	Gastric	stomach
7	chr7:65737800-65748600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:65740800-65751400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:65742400-65746800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr7:65742600-65746400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:65742800-65745600	Weak transcription	HMEC	breast
12	chr7:65742800-65746600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:65743000-65745600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:65743000-65746600	Weak transcription	HUVEC	blood vessel
15	chr7:65743000-65746600	Weak transcription	NHEK	skin
16	chr7:65743600-65746600	Weak transcription	Fetal Brain Male	brain
17	chr7:65744000-65745600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:65744200-65746800	Weak transcription	HepG2	liver
19	chr7:65744400-65746800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:65744800-65745400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:65744800-65745400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:65744800-65746000	Enhancers	HSMMtube	muscle
23	chr7:65744800-65746400	Enhancers	Muscle Satellite Cultured Cells	--
24	chr7:65744800-65748400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:65745000-65745400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr7:65745000-65745400	ZNF genes & repeats	Fetal Stomach	stomach
27	chr7:65745000-65745400	Enhancers	Psoas Muscle	Psoas
28	chr7:65745000-65745400	Enhancers	Right Atrium	heart
29	chr7:65745000-65745400	Enhancers	Spleen	Spleen
30	chr7:65745000-65745600	Enhancers	HSMM	muscle
31	chr7:65745000-65745800	Enhancers	NHLF	lung
32	chr7:65745000-65746400	Enhancers	NHDF-Ad	bronchial
33	chr7:65745000-65746400	Enhancers	Osteobl	bone
34	chr7:65745000-65748400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr7:65745200-65746200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr7:65745200-65746800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr7:65745200-65748400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:65745200-65751200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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