Variant report

Variant	rs7611522
Chromosome Location	chr3:100757820-100757821
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10936494	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12497675	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12630437	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12630679	0.84[AMR][1000 genomes]
rs12632186	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1449311	0.84[ASW][hapmap];0.82[CEU][hapmap];0.83[MEX][hapmap];0.81[MKK][hapmap];0.83[AMR][1000 genomes]
rs1449319	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1529955	0.84[ASW][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.86[TSI][hapmap]
rs1551040	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1839297	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1900908	0.90[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1972991	0.86[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.83[LWK][hapmap];0.80[MEX][hapmap];0.84[MKK][hapmap];0.88[ASN][1000 genomes]
rs2576368	0.87[JPT][hapmap]
rs4568178	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4928108	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9290276	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9883684	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[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	nsv931417	chr3:100547347-101183844	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	esv2757881	chr3:100613387-100776497	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2759163	chr3:100613387-100776497	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv877222	chr3:100715576-101038297	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100754400-100758800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr3:100755600-100762800	Enhancers	NHDF-Ad	bronchial
3	chr3:100755800-100758600	Enhancers	NHEK	skin
4	chr3:100756000-100759400	Weak transcription	Aorta	Aorta
5	chr3:100756800-100758400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr3:100756800-100758400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr3:100756800-100758400	Enhancers	HSMM	muscle
8	chr3:100757000-100758400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr3:100757200-100758400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr3:100757200-100758600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr3:100757200-100758800	Enhancers	HSMMtube	muscle
12	chr3:100757200-100758800	Enhancers	Osteobl	bone
13	chr3:100757400-100758000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:100757400-100758200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr3:100757400-100758400	Enhancers	HMEC	breast
16	chr3:100757400-100758600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr3:100757400-100758600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr3:100757400-100759600	Enhancers	Adipose Nuclei	Adipose
19	chr3:100757600-100758200	Enhancers	Placenta Amnion	Placenta Amnion
20	chr3:100757600-100758200	Enhancers	Right Atrium	heart
21	chr3:100757600-100758400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr3:100757600-100758400	Enhancers	NHLF	lung
23	chr3:100757600-100758600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr3:100757600-100758800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr3:100757600-100759400	Enhancers	Fetal Muscle Leg	muscle
26	chr3:100757800-100758000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr3:100757800-100758000	Enhancers	Hela-S3	cervix

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