Variant report

Variant	rs7112142
Chromosome Location	chr11:6383720-6383721
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10839557	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10839558	0.83[ASN][1000 genomes]
rs10839559	0.81[ASN][1000 genomes]
rs10839560	0.83[ASN][1000 genomes]
rs11040876	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12221724	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2634195	0.81[ASN][1000 genomes]
rs2682086	0.81[ASN][1000 genomes]
rs2682106	0.86[ASN][1000 genomes]
rs2723657	0.81[ASN][1000 genomes]
rs7112502	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530216	chr11:5614439-6468232	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv534152	chr11:6282812-6659230	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv1046738	chr11:6287877-6393438	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv1046995	chr11:6339868-6658766	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:6355000-6384200	Weak transcription	Right Ventricle	heart
2	chr11:6372200-6383800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:6375000-6384000	Weak transcription	Adipose Nuclei	Adipose
4	chr11:6375200-6383800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr11:6375200-6386200	Weak transcription	Stomach Mucosa	stomach
6	chr11:6378600-6384000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr11:6378800-6383800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:6378800-6383800	Weak transcription	NHEK	skin
9	chr11:6379000-6383800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr11:6379200-6383800	Weak transcription	HMEC	breast
11	chr11:6379200-6384000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr11:6379400-6383800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:6379400-6384200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:6379600-6384000	Weak transcription	NHDF-Ad	bronchial
15	chr11:6379600-6384200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:6379600-6384200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr11:6381000-6385000	Enhancers	Fetal Heart	heart
18	chr11:6381400-6384600	Enhancers	Placenta Amnion	Placenta Amnion
19	chr11:6381600-6383800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr11:6381800-6384000	Weak transcription	HSMMtube	muscle
21	chr11:6381800-6384200	Weak transcription	Osteobl	bone
22	chr11:6382000-6384200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr11:6382200-6383800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:6382200-6383800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:6382400-6384200	Weak transcription	Fetal Brain Male	brain
26	chr11:6383000-6384000	Weak transcription	Liver	Liver
27	chr11:6383400-6384000	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr11:6383600-6383800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr11:6383600-6384200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:6383600-6384400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:6383600-6384600	Enhancers	Aorta	Aorta
32	chr11:6383600-6384600	Enhancers	Right Atrium	heart
33	chr11:6383600-6384600	Enhancers	Stomach Smooth Muscle	stomach
34	chr11:6383600-6385200	Enhancers	Fetal Muscle Leg	muscle
35	chr11:6383600-6385400	Enhancers	Pancreas	Pancrea

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