Variant report

Variant	rs12700724
Chromosome Location	chr7:26351525-26351526
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:26239461..26241633-chr7:26350906..26352685,2	MCF-7	breast:
2	chr7:26343922..26347367-chr7:26351241..26354054,3	K562	blood:

Variant related genes	Relation type
ENSG00000122565	Chromatin interaction
ENSG00000122566	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12700722	1.00[EUR][1000 genomes]
rs12700725	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13224478	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13238363	1.00[EUR][1000 genomes]
rs13247860	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17153435	1.00[EUR][1000 genomes]
rs2391268	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34579559	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34947105	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35641831	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35701416	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35735803	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35934277	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36063190	1.00[AMR][1000 genomes]
rs71521759	1.00[EUR][1000 genomes]
rs71554052	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021308	chr7:26116605-26419720	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv1018971	chr7:26161228-26380361	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv1029596	chr7:26302739-26737913	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	nsv538804	chr7:26302739-26737913	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	esv2761313	chr7:26340970-26389772	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26335000-26353000	Weak transcription	GM12878-XiMat	blood
2	chr7:26335200-26386400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr7:26343200-26353000	Weak transcription	Spleen	Spleen
4	chr7:26343200-26355800	Weak transcription	Fetal Intestine Small	intestine
5	chr7:26344600-26351600	Enhancers	Placenta	Placenta
6	chr7:26345600-26386200	Weak transcription	Thymus	Thymus
7	chr7:26345800-26352400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr7:26345800-26375600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr7:26346000-26368200	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr7:26346000-26373800	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr7:26346600-26358200	Weak transcription	Liver	Liver
12	chr7:26346800-26360600	Weak transcription	Fetal Thymus	thymus
13	chr7:26347000-26356600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr7:26347800-26351600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr7:26347800-26354400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr7:26347800-26358600	Weak transcription	Adipose Nuclei	Adipose
17	chr7:26349400-26354000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:26349600-26356200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr7:26349800-26360400	Weak transcription	HepG2	liver
20	chr7:26349800-26360600	Weak transcription	Primary T cells from cord blood	blood
21	chr7:26350600-26351600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:26351000-26351600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
23	chr7:26351000-26351600	Enhancers	Pancreas	Pancrea
24	chr7:26351000-26351800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:26351000-26351800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr7:26351000-26351800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr7:26351000-26353200	Genic enhancers	Primary B cells from cord blood	blood
28	chr7:26351200-26353400	Genic enhancers	Primary B cells from peripheral blood	blood
29	chr7:26351200-26353600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:26351400-26351600	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr7:26351400-26351800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:26351400-26353800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:26351400-26360600	Enhancers	Primary monocytes fromperipheralblood	blood

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