Variant report

Variant	rs60008412
Chromosome Location	chr7:40232573-40232574
allele	-/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10081355	0.81[EUR][1000 genomes]
rs10227386	0.86[EUR][1000 genomes]
rs10228020	0.84[EUR][1000 genomes]
rs10229517	0.84[EUR][1000 genomes]
rs10230530	0.84[EUR][1000 genomes]
rs10242519	0.84[EUR][1000 genomes]
rs10243494	0.85[EUR][1000 genomes]
rs10259565	0.85[EUR][1000 genomes]
rs10261251	0.84[EUR][1000 genomes]
rs10267954	0.81[EUR][1000 genomes]
rs10269349	0.85[EUR][1000 genomes]
rs10276687	0.80[EUR][1000 genomes]
rs10951626	0.85[EUR][1000 genomes]
rs10951627	0.82[EUR][1000 genomes]
rs11760739	0.81[EUR][1000 genomes]
rs11763047	0.82[EUR][1000 genomes]
rs11767697	0.85[EUR][1000 genomes]
rs11768838	0.84[EUR][1000 genomes]
rs11769327	0.85[EUR][1000 genomes]
rs12333691	0.85[EUR][1000 genomes]
rs12333929	0.83[EUR][1000 genomes]
rs12530776	0.81[EUR][1000 genomes]
rs12535524	0.81[EUR][1000 genomes]
rs13231777	0.85[EUR][1000 genomes]
rs1406565	0.85[EUR][1000 genomes]
rs1406566	0.86[EUR][1000 genomes]
rs1534675	0.85[EUR][1000 genomes]
rs1830422	0.83[EUR][1000 genomes]
rs1874233	0.82[EUR][1000 genomes]
rs1881683	0.84[EUR][1000 genomes]
rs1881684	0.83[EUR][1000 genomes]
rs1919615	0.85[EUR][1000 genomes]
rs1973398	0.83[EUR][1000 genomes]
rs1989589	0.85[EUR][1000 genomes]
rs2009560	0.84[EUR][1000 genomes]
rs2019838	0.82[EUR][1000 genomes]
rs2024200	0.82[EUR][1000 genomes]
rs2036041	0.84[EUR][1000 genomes]
rs2056775	0.85[EUR][1000 genomes]
rs2329695	0.84[EUR][1000 genomes]
rs28733232	0.84[EUR][1000 genomes]
rs34960564	0.82[EUR][1000 genomes]
rs3966459	0.83[EUR][1000 genomes]
rs4720354	0.85[EUR][1000 genomes]
rs4723934	0.82[EUR][1000 genomes]
rs6462961	0.85[EUR][1000 genomes]
rs6462963	0.85[EUR][1000 genomes]
rs6462965	0.82[EUR][1000 genomes]
rs66481381	0.82[EUR][1000 genomes]
rs67438499	0.82[EUR][1000 genomes]
rs6944166	0.82[EUR][1000 genomes]
rs6948982	0.86[EUR][1000 genomes]
rs6951375	0.84[EUR][1000 genomes]
rs6954096	0.81[EUR][1000 genomes]
rs6957274	0.80[EUR][1000 genomes]
rs6957766	0.84[EUR][1000 genomes]
rs6962410	0.85[EUR][1000 genomes]
rs6968402	0.85[EUR][1000 genomes]
rs6979628	0.85[EUR][1000 genomes]
rs71560176	0.85[EUR][1000 genomes]
rs7776964	0.85[EUR][1000 genomes]
rs7776967	0.84[EUR][1000 genomes]
rs7778061	0.84[EUR][1000 genomes]
rs7780858	0.85[EUR][1000 genomes]
rs7796371	0.84[EUR][1000 genomes]
rs7802584	0.85[EUR][1000 genomes]
rs7808529	0.86[EUR][1000 genomes]
rs7809368	0.81[EUR][1000 genomes]
rs887445	0.85[EUR][1000 genomes]
rs887447	0.85[EUR][1000 genomes]
rs9690188	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2756801	chr7:40060180-40269583	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv2759525	chr7:40060180-40269583	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1032278	chr7:40097371-40396300	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv464438	chr7:40193535-40350887	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv606710	chr7:40193535-40350887	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1019032	chr7:40204606-40280323	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv887983	chr7:40211563-40284166	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv1030648	chr7:40218618-41032599	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv606711	chr7:40225129-40360257	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv887984	chr7:40227307-40284166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40215400-40234000	Weak transcription	HSMMtube	muscle
2	chr7:40215600-40234200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr7:40215600-40234200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:40215800-40234000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:40221000-40233800	Weak transcription	Ovary	ovary
6	chr7:40221600-40259800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr7:40222600-40256800	Weak transcription	Fetal Intestine Large	intestine
8	chr7:40224200-40256200	Weak transcription	Fetal Intestine Small	intestine
9	chr7:40225400-40239600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr7:40226200-40245400	Weak transcription	Left Ventricle	heart
11	chr7:40226400-40237000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:40226400-40237000	Weak transcription	Fetal Stomach	stomach
13	chr7:40227000-40233600	Weak transcription	HSMM	muscle
14	chr7:40228400-40247800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr7:40229000-40238800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:40230200-40237000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr7:40230800-40257000	Weak transcription	Liver	Liver
18	chr7:40231200-40232800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:40232200-40232800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:40232400-40232600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:40232400-40232600	Enhancers	Aorta	Aorta
22	chr7:40232400-40232800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:40232400-40234200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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