Variant report

Variant	rs11051706
Chromosome Location	chr12:32121156-32121157
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32121076..32122649-chr12:32124275..32127176,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10771893	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10771896	0.85[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs10771898	0.86[ASN][1000 genomes]
rs10844072	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10844078	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10844079	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10844080	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10844082	0.87[ASN][1000 genomes]
rs10844084	0.84[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs10844085	0.84[ASN][1000 genomes]
rs11051701	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11051704	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11051711	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11051720	0.86[ASN][1000 genomes]
rs12809390	0.80[AMR][1000 genomes]
rs3213955	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3213957	0.85[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs34358949	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34922084	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35533133	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35771026	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3759299	0.84[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs3759300	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043010	chr12:31798446-32143151	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv541446	chr12:31798446-32143151	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS 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 miRNA target site	41 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv1040680	chr12:32079034-32124694	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32113800-32123400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:32114000-32126200	Weak transcription	HSMM	muscle
3	chr12:32114000-32150800	Weak transcription	NHLF	lung
4	chr12:32114200-32124800	Weak transcription	HSMMtube	muscle
5	chr12:32114400-32123400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:32114400-32124200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:32114400-32132200	Weak transcription	NH-A	brain
8	chr12:32114600-32123200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:32114600-32123200	Weak transcription	NHDF-Ad	bronchial
10	chr12:32114600-32123400	Genic enhancers	Primary B cells from peripheral blood	blood
11	chr12:32114800-32123200	Weak transcription	Colonic Mucosa	Colon
12	chr12:32114800-32134000	Weak transcription	HMEC	breast
13	chr12:32115000-32123800	Weak transcription	Osteobl	bone
14	chr12:32115000-32126200	Weak transcription	NHEK	skin
15	chr12:32115400-32124800	Weak transcription	Stomach Mucosa	stomach
16	chr12:32115600-32122600	Weak transcription	Hela-S3	cervix
17	chr12:32115600-32124800	Weak transcription	HepG2	liver
18	chr12:32115800-32124800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:32116000-32141800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
20	chr12:32116400-32143200	ZNF genes & repeats	GM12878-XiMat	blood
21	chr12:32117800-32123200	Weak transcription	Fetal Kidney	kidney
22	chr12:32118000-32121800	Weak transcription	Fetal Lung	lung
23	chr12:32118000-32122000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr12:32118000-32123200	Weak transcription	Fetal Brain Male	brain
25	chr12:32118200-32122000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:32118200-32122600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:32118200-32124400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr12:32118400-32121200	Weak transcription	Fetal Brain Female	brain
29	chr12:32118400-32121800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr12:32118600-32121600	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr12:32118600-32121800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr12:32118600-32121800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr12:32118600-32122200	Weak transcription	Fetal Muscle Trunk	muscle
34	chr12:32118800-32121800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:32118800-32121800	Weak transcription	Fetal Stomach	stomach
36	chr12:32118800-32122000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:32119200-32121800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:32119200-32122200	Enhancers	Liver	Liver
39	chr12:32119400-32121600	Weak transcription	Fetal Intestine Small	intestine
40	chr12:32119600-32122200	Weak transcription	Placenta	Placenta
41	chr12:32119600-32123200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:32119600-32123200	Weak transcription	HUVEC	blood vessel
43	chr12:32119800-32121600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr12:32119800-32123400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr12:32120000-32121400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr12:32120000-32121600	Weak transcription	Fetal Intestine Large	intestine
47	chr12:32120000-32121800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr12:32120000-32121800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr12:32120000-32121800	Weak transcription	Aorta	Aorta
50	chr12:32120000-32121800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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