Variant report

Variant	rs72925431
Chromosome Location	chr2:39356714-39356715
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr2:39356487-39356816	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:39350652..39353712-chr2:39355009..39357216,3	K562	blood:
2	chr2:39350652..39354915-chr2:39355009..39358498,5	K562	blood:
3	chr2:39346435..39348442-chr2:39355964..39358856,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000202309	TF binding region
ENSG00000115904	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10166557	1.00[EUR][1000 genomes]
rs10173380	1.00[EUR][1000 genomes]
rs10173563	1.00[EUR][1000 genomes]
rs10184046	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10184855	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10186842	1.00[EUR][1000 genomes]
rs10188701	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10189440	1.00[EUR][1000 genomes]
rs10194533	1.00[EUR][1000 genomes]
rs10196863	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10199955	1.00[EUR][1000 genomes]
rs10202876	1.00[EUR][1000 genomes]
rs10203565	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10207187	1.00[EUR][1000 genomes]
rs10207984	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10495882	1.00[EUR][1000 genomes]
rs11124660	0.81[AFR][1000 genomes]
rs12329307	1.00[EUR][1000 genomes]
rs13387231	1.00[EUR][1000 genomes]
rs13394446	1.00[EUR][1000 genomes]
rs13395448	1.00[EUR][1000 genomes]
rs13407659	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13411756	1.00[EUR][1000 genomes]
rs13414685	1.00[EUR][1000 genomes]
rs13416725	1.00[EUR][1000 genomes]
rs13424493	1.00[EUR][1000 genomes]
rs13425165	1.00[EUR][1000 genomes]
rs13428418	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13432395	1.00[EUR][1000 genomes]
rs17023214	1.00[EUR][1000 genomes]
rs17023241	1.00[EUR][1000 genomes]
rs17023292	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55890805	1.00[EUR][1000 genomes]
rs56269328	1.00[EUR][1000 genomes]
rs56724744	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57359008	1.00[EUR][1000 genomes]
rs59259697	1.00[EUR][1000 genomes]
rs60703378	1.00[EUR][1000 genomes]
rs61596046	1.00[EUR][1000 genomes]
rs6544200	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6734212	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6737680	1.00[EUR][1000 genomes]
rs6751306	1.00[EUR][1000 genomes]
rs6753426	1.00[EUR][1000 genomes]
rs6754613	1.00[EUR][1000 genomes]
rs718312	1.00[EUR][1000 genomes]
rs72906436	1.00[EUR][1000 genomes]
rs72906467	1.00[EUR][1000 genomes]
rs72916836	1.00[EUR][1000 genomes]
rs72916860	1.00[EUR][1000 genomes]
rs72918710	1.00[EUR][1000 genomes]
rs72925433	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72925439	1.00[EUR][1000 genomes]
rs7340303	1.00[EUR][1000 genomes]
rs73930506	1.00[EUR][1000 genomes]
rs7559586	1.00[EUR][1000 genomes]
rs7564481	1.00[EUR][1000 genomes]
rs7565814	1.00[EUR][1000 genomes]
rs7571608	1.00[EUR][1000 genomes]
rs7571719	1.00[EUR][1000 genomes]
rs7574214	1.00[EUR][1000 genomes]
rs7582586	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7589303	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7599990	1.00[EUR][1000 genomes]
rs9646968	1.00[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	esv2755359	chr2:39169049-39417849	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv873885	chr2:39200198-39573521	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1010874	chr2:39255376-39604535	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv535649	chr2:39255376-39604535	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	nsv531346	chr2:39263225-39606367	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv533348	chr2:39264345-39596169	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv1014520	chr2:39270598-39596299	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
8	nsv535650	chr2:39270598-39596299	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
9	nsv1008198	chr2:39271472-39364035	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
10	nsv1009379	chr2:39271472-39604535	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
11	nsv581493	chr2:39277851-39547575	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
12	nsv581494	chr2:39277851-39626388	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
13	nsv533456	chr2:39281834-39596298	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
14	nsv581495	chr2:39282079-39475205	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39352400-39356800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr2:39352800-39362800	Weak transcription	Thymus	Thymus
3	chr2:39352800-39368600	Weak transcription	HMEC	breast
4	chr2:39354200-39357800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr2:39354200-39358400	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr2:39354400-39357600	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr2:39354400-39358600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr2:39354400-39358600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr2:39354600-39358000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:39354600-39358600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr2:39354800-39357400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr2:39355000-39357200	Enhancers	Primary B cells from cord blood	blood
13	chr2:39355000-39357200	Enhancers	Dnd41	blood
14	chr2:39355000-39357400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:39355000-39357600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr2:39355000-39357800	Enhancers	Primary B cells from peripheral blood	blood
17	chr2:39355000-39358400	Enhancers	Primary T cells from cord blood	blood
18	chr2:39355000-39358400	Enhancers	Primary T cells fromperipheralblood	blood
19	chr2:39355200-39356800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:39355200-39356800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:39355200-39356800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr2:39355200-39357000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:39355200-39357200	Enhancers	Fetal Intestine Large	intestine
24	chr2:39355200-39357200	Enhancers	Fetal Intestine Small	intestine
25	chr2:39355200-39357200	Enhancers	Fetal Thymus	thymus
26	chr2:39355200-39357400	Enhancers	HepG2	liver
27	chr2:39355400-39366000	Weak transcription	Hela-S3	cervix
28	chr2:39355600-39356800	Weak transcription	NHLF	lung
29	chr2:39355600-39356800	Enhancers	Osteobl	bone
30	chr2:39355600-39357200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:39355600-39357400	Enhancers	NHDF-Ad	bronchial
32	chr2:39355600-39359200	Weak transcription	K562	blood
33	chr2:39355800-39357200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr2:39356000-39358600	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr2:39356400-39356800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr2:39356400-39356800	Flanking Active TSS	GM12878-XiMat	blood
37	chr2:39356400-39357400	Enhancers	Small Intestine	intestine
38	chr2:39356600-39356800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:39356600-39356800	Enhancers	Muscle Satellite Cultured Cells	--
40	chr2:39356600-39357000	Enhancers	Duodenum Mucosa	Duodenum
41	chr2:39356600-39357200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--

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