Variant report

Variant	rs2612698
Chromosome Location	chr2:111622435-111622436
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	chr2:111618005..111620750-chr2:111621836..111623864,4	MCF-7	breast:
2	chr2:111614729..111616277-chr2:111621749..111623783,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10169852	0.95[CEU][hapmap];0.86[CHB][hapmap];0.81[MEX][hapmap];0.97[TSI][hapmap];0.91[EUR][1000 genomes]
rs10179923	0.86[CEU][hapmap];0.87[JPT][hapmap];0.81[EUR][1000 genomes]
rs10180020	0.86[CEU][hapmap];0.81[EUR][1000 genomes]
rs10180446	0.82[CEU][hapmap];0.81[JPT][hapmap]
rs10864930	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12711785	0.85[CEU][hapmap];0.80[JPT][hapmap];0.81[EUR][1000 genomes]
rs13019266	0.82[CEU][hapmap];0.81[JPT][hapmap]
rs1533295	0.82[CEU][hapmap];0.81[JPT][hapmap]
rs1533298	0.86[CEU][hapmap];0.80[EUR][1000 genomes]
rs1533300	0.86[CEU][hapmap];0.81[EUR][1000 genomes]
rs2341873	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];0.90[MEX][hapmap];0.97[TSI][hapmap];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2612700	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4848317	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4849134	0.86[CEU][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes]
rs4849135	0.86[CEU][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes]
rs4849155	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7576541	0.85[CEU][hapmap];0.81[JPT][hapmap]
rs7588925	0.86[CEU][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes]
rs9917154	0.85[CEU][hapmap];0.81[JPT][hapmap]
rs997523	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874839	chr2:111400934-111868010	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1008758	chr2:111415136-111626467	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv535890	chr2:111415136-111626467	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv997829	chr2:111486961-111780537	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv834330	chr2:111593290-111789447	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv874840	chr2:111605245-111695479	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1004949	chr2:111607532-111780719	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1002568	chr2:111607532-111781442	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1005665	chr2:111610107-111762039	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv535892	chr2:111610107-111762039	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv874841	chr2:111616304-111685789	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111610600-111623600	Weak transcription	Spleen	Spleen
2	chr2:111617200-111626200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:111617400-111622800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:111617400-111625000	Enhancers	Fetal Thymus	thymus
5	chr2:111617400-111630600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr2:111617400-111630800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:111617600-111623600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:111617600-111623800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:111617600-111632600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr2:111618400-111622600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr2:111619000-111622800	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr2:111619000-111623000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr2:111619200-111622600	Weak transcription	Primary T cells from cord blood	blood
14	chr2:111619200-111622600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr2:111619400-111622600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr2:111620200-111623600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:111620200-111626000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:111620400-111622800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:111621200-111623000	Enhancers	Dnd41	blood
20	chr2:111621200-111623800	Enhancers	Placenta	Placenta
21	chr2:111621200-111624800	Enhancers	Thymus	Thymus
22	chr2:111621400-111624800	Enhancers	GM12878-XiMat	blood
23	chr2:111621600-111623800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:111622200-111622600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr2:111622200-111624000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr2:111622200-111624200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr2:111622400-111623000	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr2:111622400-111623000	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr2:111622400-111623400	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr2:111622400-111623400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr2:111622400-111623800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:111622400-111623800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr2:111622400-111623800	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr2:111622400-111624400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
35	chr2:111622400-111624600	Enhancers	H1 Cell Line	embryonic stem cell
36	chr2:111622400-111624800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr2:111622400-111630400	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr2:111622400-111630400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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