Variant report

Variant	rs2595919
Chromosome Location	chr3:100757594-100757595
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1375509	0.84[ASN][1000 genomes]
rs1868496	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1900910	0.84[ASN][1000 genomes]
rs2122226	0.84[ASN][1000 genomes]
rs2197900	0.84[ASN][1000 genomes]
rs2317336	0.84[ASN][1000 genomes]
rs2317338	0.83[ASN][1000 genomes]
rs2595916	0.96[AFR][1000 genomes]
rs2595918	1.00[ASN][1000 genomes]
rs2713743	1.00[ASN][1000 genomes]
rs9835687	0.84[ASN][1000 genomes]
rs9835849	0.84[ASN][1000 genomes]
rs9872927	0.84[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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100754400-100757600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr3:100754400-100758800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr3:100755600-100757600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr3:100755600-100762800	Enhancers	NHDF-Ad	bronchial
5	chr3:100755800-100758600	Enhancers	NHEK	skin
6	chr3:100756000-100757600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr3:100756000-100757600	Weak transcription	NHLF	lung
8	chr3:100756000-100757800	Weak transcription	Hela-S3	cervix
9	chr3:100756000-100759400	Weak transcription	Aorta	Aorta
10	chr3:100756200-100757600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr3:100756600-100757600	Weak transcription	HUVEC	blood vessel
12	chr3:100756800-100758400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr3:100756800-100758400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr3:100756800-100758400	Enhancers	HSMM	muscle
15	chr3:100757000-100758400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr3:100757200-100758400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:100757200-100758600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr3:100757200-100758800	Enhancers	HSMMtube	muscle
19	chr3:100757200-100758800	Enhancers	Osteobl	bone
20	chr3:100757400-100758000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr3:100757400-100758200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:100757400-100758400	Enhancers	HMEC	breast
23	chr3:100757400-100758600	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr3:100757400-100758600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr3:100757400-100759600	Enhancers	Adipose Nuclei	Adipose

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