Variant report

Variant	rs7581128
Chromosome Location	chr2:99389494-99389495
allele	A/T
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	POLR2A	chr2:99384652-99389971	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:99345368..99349321-chr2:99385005..99390572,6	MCF-7	breast:
2	chr2:99384290..99389208-chr2:99389339..99394045,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226791	TF binding region
ENSG00000226791	Chromatin interaction
ENSG00000071073	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10166044	0.82[ASN][1000 genomes]
rs10189330	0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10496332	0.82[CHB][hapmap]
rs11885883	0.82[CHB][hapmap]
rs12615689	0.89[EUR][1000 genomes]
rs12712033	0.81[JPT][hapmap]
rs12999225	0.95[CHB][hapmap];0.90[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13389386	0.91[CHB][hapmap];0.90[JPT][hapmap];0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1356424	0.83[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs1913621	0.81[CHB][hapmap]
rs2276604	0.83[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs2280256	0.80[JPT][hapmap]
rs41445250	0.81[CHB][hapmap]
rs4263159	0.81[JPT][hapmap]
rs4851150	0.81[CHB][hapmap]
rs6542838	0.81[JPT][hapmap]
rs6712597	0.83[ASN][1000 genomes]
rs6716514	0.83[ASN][1000 genomes]
rs6757099	0.81[ASN][1000 genomes]
rs7557295	0.85[ASN][1000 genomes]
rs7558236	0.82[CHB][hapmap]
rs7570815	0.85[ASN][1000 genomes]
rs7578035	0.89[EUR][1000 genomes]
rs7579189	0.81[JPT][hapmap]
rs7581349	0.91[EUR][1000 genomes]
rs7582382	1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9308815	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs981601	0.81[JPT][hapmap]

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	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking 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	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99384400-99389800	Flanking Active TSS	Dnd41	blood
2	chr2:99385800-99394000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:99385800-99410400	Weak transcription	Right Atrium	heart
4	chr2:99386200-99391600	Weak transcription	Fetal Brain Female	brain
5	chr2:99386600-99391000	Weak transcription	Fetal Brain Male	brain
6	chr2:99386800-99391400	Weak transcription	Esophagus	oesophagus
7	chr2:99387400-99389600	Enhancers	Primary hematopoietic stem cells	blood
8	chr2:99387600-99392000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr2:99387800-99389800	Enhancers	Fetal Muscle Leg	muscle
10	chr2:99387800-99390200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr2:99388000-99389600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr2:99388000-99389800	Enhancers	Spleen	Spleen
13	chr2:99388000-99391400	Weak transcription	Pancreas	Pancrea
14	chr2:99388400-99389600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:99388600-99389600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:99388600-99389600	Enhancers	Brain Substantia Nigra	brain
17	chr2:99388600-99389600	Enhancers	Placenta	Placenta
18	chr2:99388600-99392200	Weak transcription	Lung	lung
19	chr2:99388800-99389600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:99388800-99389600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:99388800-99389800	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr2:99389000-99389800	Enhancers	Primary B cells from peripheral blood	blood
23	chr2:99389000-99389800	Enhancers	Thymus	Thymus
24	chr2:99389000-99390200	Enhancers	GM12878-XiMat	blood
25	chr2:99389000-99390400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr2:99389000-99390600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr2:99389000-99391800	Weak transcription	HepG2	liver
28	chr2:99389000-99392400	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr2:99389000-99393000	Enhancers	Fetal Thymus	thymus
30	chr2:99389000-99393800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr2:99389200-99389800	Enhancers	Fetal Muscle Trunk	muscle
32	chr2:99389200-99389800	Enhancers	NH-A	brain
33	chr2:99389200-99390000	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr2:99389200-99390600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr2:99389200-99391200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr2:99389200-99391600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr2:99389200-99392000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr2:99389200-99392000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr2:99389200-99392400	Enhancers	Primary T cells fromperipheralblood	blood
40	chr2:99389200-99392600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr2:99389400-99389600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:99389400-99389800	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr2:99389400-99391600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr2:99389400-99391600	Enhancers	Primary T cells from cord blood	blood
45	chr2:99389400-99391600	Weak transcription	HMEC	breast
46	chr2:99389400-99391800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr2:99389400-99391800	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr2:99389400-99392600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr2:99389400-99392800	Enhancers	Primary T helper naive cells from peripheral blood	blood

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