Variant report

Variant	rs1260163
Chromosome Location	chr12:32179150-32179151
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	chr12:32173013..32175537-chr12:32177292..32179791,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11609494	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1260155	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1260165	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1272284	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12825052	1.00[JPT][hapmap]
rs1684126	0.83[CEU][hapmap]
rs17527955	1.00[JPT][hapmap]
rs17528414	1.00[JPT][hapmap]
rs17584493	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17586170	1.00[JPT][hapmap]
rs2243419	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2652001	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2683466	1.00[ASN][1000 genomes]
rs7952772	1.00[JPT][hapmap]
rs901331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs901332	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv558100	chr12:31866833-32185924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1045464	chr12:31869888-32183792	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription 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 miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv541447	chr12:31869888-32183792	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	esv3363806	chr12:31872264-32410283	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 Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	esv3430326	chr12:32142734-32216569	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	esv3410287	chr12:32142734-32219420	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv976030	chr12:32153446-32307541	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv983498	chr12:32153446-32388092	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS 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	10 gene(s)	inside rSNPs	diseases
11	esv2761731	chr12:32177270-32206870	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32154800-32179400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:32166000-32186400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:32166400-32184200	Weak transcription	Ovary	ovary
4	chr12:32171800-32181000	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr12:32177400-32180000	Weak transcription	Gastric	stomach
6	chr12:32177600-32181400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:32177800-32179200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr12:32177800-32179200	Enhancers	Dnd41	blood
9	chr12:32177800-32180200	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr12:32177800-32180200	Enhancers	Fetal Thymus	thymus
11	chr12:32177800-32181400	Enhancers	Primary T cells from cord blood	blood
12	chr12:32178000-32179600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr12:32178000-32179600	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr12:32178000-32180000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:32178000-32180000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr12:32178000-32180200	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr12:32178000-32180200	Enhancers	Thymus	Thymus
18	chr12:32178000-32180400	Enhancers	Primary T cells fromperipheralblood	blood
19	chr12:32178000-32181200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr12:32178000-32181400	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr12:32178200-32180000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr12:32178200-32180000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr12:32178200-32181400	Enhancers	Primary hematopoietic stem cells	blood
24	chr12:32178200-32184200	Weak transcription	Fetal Lung	lung
25	chr12:32178400-32179200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:32178400-32179600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:32178400-32180000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr12:32178400-32180000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr12:32178400-32180000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr12:32178400-32182000	Enhancers	Primary B cells from peripheral blood	blood
31	chr12:32178400-32184200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr12:32178600-32179800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr12:32178600-32180000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr12:32178800-32179400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr12:32178800-32179600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr12:32179000-32179200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:32179000-32180600	Weak transcription	GM12878-XiMat	blood
38	chr12:32179000-32181600	Enhancers	Primary B cells from cord blood	blood
39	chr12:32179000-32183000	Weak transcription	K562	blood
40	chr12:32179000-32184000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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