Variant report

Variant	rs71315219
Chromosome Location	chr3:100756104-100756105
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]
rs13060756	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13084328	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs13084743	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13094362	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13099753	0.84[ASN][1000 genomes]
rs1375513	0.81[ASN][1000 genomes]
rs1584481	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs16843187	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1823360	0.81[ASN][1000 genomes]
rs1900909	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2053861	0.81[ASN][1000 genomes]
rs34109547	0.81[AMR][1000 genomes]
rs34422754	0.92[AMR][1000 genomes]
rs4928107	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs71315220	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71315221	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs969628	0.96[AMR][1000 genomes];0.81[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	chr3:100754000-100756600	Enhancers	HUVEC	blood vessel
2	chr3:100754200-100756400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr3:100754400-100756200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr3:100754400-100756200	Enhancers	HMEC	breast
5	chr3:100754400-100756600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:100754400-100757600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr3:100754400-100758800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr3:100754800-100756200	Enhancers	Placenta Amnion	Placenta Amnion
9	chr3:100755400-100756200	Genic enhancers	HSMM	muscle
10	chr3:100755600-100757400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr3:100755600-100757400	Weak transcription	Adipose Nuclei	Adipose
12	chr3:100755600-100757600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr3:100755600-100762800	Enhancers	NHDF-Ad	bronchial
14	chr3:100755800-100756200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr3:100755800-100756400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr3:100755800-100757000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr3:100755800-100757200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr3:100755800-100758600	Enhancers	NHEK	skin
19	chr3:100756000-100757200	Weak transcription	HSMMtube	muscle
20	chr3:100756000-100757200	Weak transcription	Osteobl	bone
21	chr3:100756000-100757400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:100756000-100757400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr3:100756000-100757400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr3:100756000-100757600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr3:100756000-100757600	Weak transcription	NHLF	lung
26	chr3:100756000-100757800	Weak transcription	Hela-S3	cervix
27	chr3:100756000-100759400	Weak transcription	Aorta	Aorta

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