Variant report

Variant	rs6704812
Chromosome Location	chr2:134390894-134390895
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10928455	0.82[ASN][1000 genomes]
rs1432290	0.85[EUR][1000 genomes]
rs1432291	0.84[EUR][1000 genomes]
rs1653793	0.85[EUR][1000 genomes]
rs1653796	0.85[EUR][1000 genomes]
rs1653798	0.86[EUR][1000 genomes]
rs1669462	0.84[EUR][1000 genomes]
rs1669468	0.84[EUR][1000 genomes]
rs1669470	0.84[EUR][1000 genomes]
rs1669471	0.82[EUR][1000 genomes]
rs4954071	0.84[EUR][1000 genomes]
rs4954073	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56366350	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73957147	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7561974	0.86[EUR][1000 genomes]
rs7564515	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7565361	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1006101	chr2:134263288-134973917	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv516644	chr2:134301130-134391214	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv431713	chr2:134316522-134413604	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1013713	chr2:134322236-134644574	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv535931	chr2:134322236-134644574	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv2934	chr2:134368478-134412454	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv998920	chr2:134382097-134424640	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134386800-134392000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:134388400-134391600	Weak transcription	Right Atrium	heart
3	chr2:134389400-134391600	Enhancers	Brain Substantia Nigra	brain
4	chr2:134389600-134391200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr2:134389600-134391600	Enhancers	Brain Hippocampus Middle	brain
6	chr2:134389800-134394400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:134390000-134391400	Enhancers	Brain Anterior Caudate	brain
8	chr2:134390600-134391000	Enhancers	Brain Angular Gyrus	brain
9	chr2:134390600-134391000	Enhancers	Esophagus	oesophagus
10	chr2:134390600-134391200	Enhancers	Brain Cingulate Gyrus	brain
11	chr2:134390600-134391400	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr2:134390600-134391600	Enhancers	Fetal Heart	heart
13	chr2:134390600-134392000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:134390600-134392200	Enhancers	HMEC	breast
15	chr2:134390800-134391000	Enhancers	Left Ventricle	heart
16	chr2:134390800-134391000	Enhancers	Right Ventricle	heart
17	chr2:134390800-134391200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:134390800-134391400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:134390800-134391800	Enhancers	NH-A	brain
20	chr2:134390800-134392000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:134390800-134392000	Enhancers	Placenta	Placenta
22	chr2:134390800-134392000	Flanking Active TSS	NHEK	skin
23	chr2:134390800-134392400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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