Variant report

Variant	rs1871494
Chromosome Location	chr3:140105463-140105464
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10513112	0.88[CEU][hapmap];0.85[JPT][hapmap]
rs11710552	0.80[EUR][1000 genomes]
rs11710635	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11718581	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12494858	0.84[EUR][1000 genomes]
rs12494862	0.84[EUR][1000 genomes]
rs2170059	0.89[CEU][hapmap];0.91[JPT][hapmap]
rs4683492	0.91[JPT][hapmap]
rs4683493	0.86[JPT][hapmap]
rs4683495	0.88[CEU][hapmap]
rs4683830	0.96[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4683831	0.88[CEU][hapmap]
rs4683833	0.86[JPT][hapmap]
rs4683834	0.89[CEU][hapmap]
rs55643627	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56169610	0.80[AMR][1000 genomes]
rs62266365	0.80[EUR][1000 genomes]
rs62266366	0.80[EUR][1000 genomes]
rs6439918	0.95[JPT][hapmap]
rs7630806	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757891	chr3:139925764-140524730	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv2759181	chr3:139925764-140524730	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv829740	chr3:139925767-140106169	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv527831	chr3:139932966-140533823	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv460867	chr3:140007294-140180563	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv591861	chr3:140007294-140180563	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv34489	chr3:140009020-140469302	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	esv2757012	chr3:140009220-140460228	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv818169	chr3:140014763-140182046	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1001430	chr3:140016999-140186498	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv998953	chr3:140017168-140186984	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv536731	chr3:140017168-140186984	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv829741	chr3:140021063-140183294	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv1004500	chr3:140021594-140189148	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140102600-140107000	Enhancers	Ovary	ovary
2	chr3:140103000-140106000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr3:140103000-140106200	Enhancers	HSMMtube	muscle
4	chr3:140103200-140106000	Enhancers	HSMM	muscle
5	chr3:140104000-140105800	Enhancers	Fetal Muscle Leg	muscle
6	chr3:140104400-140105600	Enhancers	Fetal Muscle Trunk	muscle
7	chr3:140104600-140105600	Enhancers	Fetal Kidney	kidney
8	chr3:140104600-140105800	Enhancers	Right Atrium	heart
9	chr3:140104800-140106000	Enhancers	K562	blood
10	chr3:140105200-140105600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr3:140105200-140105600	Enhancers	Esophagus	oesophagus
12	chr3:140105200-140105600	Enhancers	Gastric	stomach
13	chr3:140105200-140105600	Enhancers	Lung	lung
14	chr3:140105200-140106000	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr3:140105200-140106000	Enhancers	HepG2	liver
16	chr3:140105200-140106400	Enhancers	Liver	Liver
17	chr3:140105400-140105600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr3:140105400-140105600	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr3:140105400-140105800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr3:140105400-140105800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr3:140105400-140105800	Enhancers	Pancreas	Pancrea
22	chr3:140105400-140106000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr3:140105400-140106000	Enhancers	Brain Hippocampus Middle	brain
24	chr3:140105400-140106000	Enhancers	Colon Smooth Muscle	Colon

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