Variant report

Variant	rs2713757
Chromosome Location	chr3:100710508-100710509
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10936459	0.87[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10936460	0.87[ASN][1000 genomes]
rs10936464	0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap]
rs13062274	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs13066740	0.86[ASN][1000 genomes]
rs13072542	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs13075849	0.87[ASN][1000 genomes]
rs13079773	1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs13080505	0.87[ASN][1000 genomes]
rs13082728	0.82[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs13090397	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs13091963	0.85[ASN][1000 genomes]
rs1449300	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1449302	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1449305	0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1449315	0.85[ASN][1000 genomes]
rs1449320	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1529955	0.82[JPT][hapmap]
rs16843113	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs16843116	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs16843148	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs16843163	0.87[ASN][1000 genomes]
rs1965214	0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.87[ASN][1000 genomes]
rs1972991	0.82[JPT][hapmap]
rs2254374	0.85[ASN][1000 genomes]
rs2595904	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2595914	0.85[ASN][1000 genomes]
rs2595917	0.85[ASN][1000 genomes]
rs2713768	0.85[ASN][1000 genomes]
rs2713769	0.85[ASN][1000 genomes]
rs2713770	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2713771	0.85[ASN][1000 genomes]
rs2713773	0.84[ASN][1000 genomes]
rs2713774	0.85[ASN][1000 genomes]
rs2713775	0.85[ASN][1000 genomes]
rs2713776	0.85[ASN][1000 genomes]
rs28365990	0.87[ASN][1000 genomes]
rs2873448	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs34350012	0.85[ASN][1000 genomes]
rs34670326	0.87[ASN][1000 genomes]
rs34748077	0.85[ASN][1000 genomes]
rs35064087	0.85[ASN][1000 genomes]
rs35290466	0.85[ASN][1000 genomes]
rs3732895	0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.87[ASN][1000 genomes]
rs3732896	0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.87[ASN][1000 genomes]
rs3806655	0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.87[ASN][1000 genomes]
rs41273569	0.87[ASN][1000 genomes]
rs4928060	0.87[ASN][1000 genomes]
rs4928102	0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap]
rs4928104	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs56847573	0.83[ASN][1000 genomes]
rs58004340	0.85[ASN][1000 genomes]
rs7631509	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100692600-100711200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:100700400-100711200	Weak transcription	Esophagus	oesophagus
3	chr3:100701800-100711000	Weak transcription	Aorta	Aorta
4	chr3:100702000-100710800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr3:100702200-100711000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr3:100707200-100711200	Weak transcription	Gastric	stomach
7	chr3:100707200-100711200	Weak transcription	Lung	lung
8	chr3:100708600-100710600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr3:100708600-100711000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr3:100708800-100710600	Weak transcription	NHEK	skin
11	chr3:100709000-100712600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:100709200-100713000	Active TSS	Stomach Smooth Muscle	stomach
13	chr3:100709600-100710600	Enhancers	Ovary	ovary
14	chr3:100709600-100711600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr3:100709600-100712400	Active TSS	HSMMtube	muscle
16	chr3:100709800-100711600	Active TSS	Osteobl	bone
17	chr3:100709800-100712400	Active TSS	Fetal Muscle Leg	muscle
18	chr3:100709800-100712400	Active TSS	NHDF-Ad	bronchial
19	chr3:100709800-100712600	Active TSS	Muscle Satellite Cultured Cells	--
20	chr3:100709800-100712600	Active TSS	Fetal Stomach	stomach
21	chr3:100710000-100710800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr3:100710000-100712800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:100710000-100712800	Active TSS	Fetal Lung	lung
24	chr3:100710200-100710600	Enhancers	Fetal Intestine Large	intestine
25	chr3:100710200-100710800	Flanking Active TSS	HUVEC	blood vessel
26	chr3:100710200-100712200	Active TSS	Right Atrium	heart
27	chr3:100710200-100712400	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr3:100710200-100712600	Active TSS	Fetal Muscle Trunk	muscle
29	chr3:100710400-100711000	Weak transcription	HSMM	muscle
30	chr3:100710400-100712400	Active TSS	Colon Smooth Muscle	Colon
31	chr3:100710400-100712400	Active TSS	NHLF	lung
32	chr3:100710400-100712800	Active TSS	Rectal Smooth Muscle	rectum

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