Variant report

Variant	rs7594967
Chromosome Location	chr2:39750454-39750455
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:39744597..39747139-chr2:39748904..39750749,2	MCF-7	breast:
2	chr2:39742944..39745586-chr2:39749243..39752053,2	K562	blood:
3	chr2:39749162..39751923-chr2:39751985..39754949,2	MCF-7	breast:
4	chr2:39742413..39744444-chr2:39749580..39752053,2	K562	blood:

Variant related genes	Relation type
ENSG00000231312	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10180761	0.89[ASW][hapmap]
rs10191970	0.81[CEU][hapmap];0.89[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11896239	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11900495	0.84[AFR][1000 genomes]
rs12476783	0.81[AFR][1000 genomes]
rs13027520	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13391377	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17023923	0.82[ASN][1000 genomes]
rs17473802	1.00[ASW][hapmap];0.92[LWK][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs17532603	0.85[CEU][hapmap]
rs2888602	1.00[JPT][hapmap]
rs35377016	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4670282	0.88[ASN][1000 genomes]
rs4670285	0.88[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4670943	0.86[ASN][1000 genomes]
rs56337010	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6740898	0.81[ASN][1000 genomes]
rs6753798	0.82[CEU][hapmap];0.85[CHD][hapmap];0.85[GIH][hapmap];0.80[EUR][1000 genomes]
rs72803112	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72803115	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs734663	1.00[ASW][hapmap];0.96[CEU][hapmap];0.89[CHD][hapmap];0.88[JPT][hapmap];0.92[MEX][hapmap];0.81[MKK][hapmap];0.81[TSI][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7608399	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997934	chr2:39473548-39751029	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv833858	chr2:39684483-39856498	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39724800-39750600	Weak transcription	Gastric	stomach
2	chr2:39744200-39753200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:39744800-39751200	Weak transcription	Right Ventricle	heart
4	chr2:39745000-39751000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:39745000-39752000	Weak transcription	Brain Angular Gyrus	brain
6	chr2:39747800-39751200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
7	chr2:39748000-39750600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
8	chr2:39748400-39753600	Enhancers	Psoas Muscle	Psoas
9	chr2:39748600-39753400	Enhancers	Left Ventricle	heart
10	chr2:39748800-39753000	Enhancers	Stomach Smooth Muscle	stomach
11	chr2:39749000-39752200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr2:39749200-39750800	Enhancers	Liver	Liver
13	chr2:39749200-39751200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr2:39749400-39750600	Weak transcription	Placenta	Placenta
15	chr2:39749400-39751000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr2:39749400-39751000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr2:39749400-39757200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr2:39749400-39758000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:39749400-39761000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:39749600-39753400	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr2:39749800-39750600	Genic enhancers	HepG2	liver
22	chr2:39749800-39751000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:39749800-39751000	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr2:39749800-39751000	Enhancers	HMEC	breast
25	chr2:39749800-39752600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:39749800-39752600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:39749800-39753000	Enhancers	HSMM	muscle
28	chr2:39749800-39753400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:39750000-39750600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr2:39750000-39750600	Weak transcription	Right Atrium	heart
31	chr2:39750000-39750800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr2:39750000-39750800	Enhancers	K562	blood
33	chr2:39750000-39750800	Enhancers	NHEK	skin
34	chr2:39750000-39751000	Weak transcription	Stomach Mucosa	stomach
35	chr2:39750000-39752000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:39750000-39752400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:39750000-39752600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:39750000-39752600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:39750000-39752600	Enhancers	Hela-S3	cervix
40	chr2:39750000-39752600	Enhancers	NHLF	lung
41	chr2:39750000-39752800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:39750000-39761000	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr2:39750200-39750600	Enhancers	A549	lung
44	chr2:39750200-39750800	Enhancers	Placenta Amnion	Placenta Amnion
45	chr2:39750200-39751000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:39750200-39751800	Enhancers	HUVEC	blood vessel
47	chr2:39750200-39752600	Enhancers	NHDF-Ad	bronchial
48	chr2:39750200-39752800	Enhancers	NH-A	brain
49	chr2:39750200-39753400	Enhancers	Adipose Nuclei	Adipose
50	chr2:39750200-39753400	Enhancers	Fetal Heart	heart

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