Variant report

Variant	rs11051701
Chromosome Location	chr12:32118001-32118002
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:32116375..32119064-chr12:32135432..32138483,3	K562	blood:
2	chr12:32111934..32114190-chr12:32116343..32118523,3	MCF-7	breast:
3	chr12:32116205..32118530-chr12:32174123..32177069,2	K562	blood:
4	chr12:32112289..32114190-chr12:32117425..32119579,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000174718	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10771893	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10771896	0.82[ASN][1000 genomes]
rs10771898	0.81[ASN][1000 genomes]
rs10844072	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10844078	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10844079	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10844080	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10844082	0.81[ASN][1000 genomes]
rs10844084	0.82[ASN][1000 genomes]
rs10844085	0.80[ASN][1000 genomes]
rs11051704	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11051706	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11051711	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11051720	0.82[ASN][1000 genomes]
rs3213955	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3213957	0.82[ASN][1000 genomes]
rs34358949	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34922084	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35533133	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35771026	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3759300	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[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	chr12:32113400-32118600	Weak transcription	Pancreas	Pancrea
2	chr12:32113400-32121000	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
3	chr12:32113600-32120800	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
4	chr12:32113800-32118600	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
5	chr12:32113800-32120200	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
6	chr12:32113800-32123400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr12:32114000-32118600	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
8	chr12:32114000-32119600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
9	chr12:32114000-32126200	Weak transcription	HSMM	muscle
10	chr12:32114000-32150800	Weak transcription	NHLF	lung
11	chr12:32114200-32124800	Weak transcription	HSMMtube	muscle
12	chr12:32114400-32118400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:32114400-32119200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:32114400-32119400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:32114400-32120800	Genic enhancers	Left Ventricle	heart
16	chr12:32114400-32123400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:32114400-32124200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr12:32114400-32132200	Weak transcription	NH-A	brain
19	chr12:32114600-32118200	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 2	blood
20	chr12:32114600-32118200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:32114600-32118600	Weak transcription	Right Ventricle	heart
22	chr12:32114600-32119200	Weak transcription	Brain Substantia Nigra	brain
23	chr12:32114600-32119400	Weak transcription	Brain Angular Gyrus	brain
24	chr12:32114600-32123200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:32114600-32123200	Weak transcription	NHDF-Ad	bronchial
26	chr12:32114600-32123400	Genic enhancers	Primary B cells from peripheral blood	blood
27	chr12:32114800-32118200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:32114800-32118800	Strong transcription	Fetal Stomach	stomach
29	chr12:32114800-32119000	Weak transcription	Fetal Heart	heart
30	chr12:32114800-32123200	Weak transcription	Colonic Mucosa	Colon
31	chr12:32114800-32134000	Weak transcription	HMEC	breast
32	chr12:32115000-32119000	Weak transcription	Colon Smooth Muscle	Colon
33	chr12:32115000-32119200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr12:32115000-32119400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr12:32115000-32119400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr12:32115000-32119400	Weak transcription	Aorta	Aorta
37	chr12:32115000-32119400	Weak transcription	Brain Cingulate Gyrus	brain
38	chr12:32115000-32119400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr12:32115000-32119600	Weak transcription	Gastric	stomach
40	chr12:32115000-32120200	Genic enhancers	Primary monocytes fromperipheralblood	blood
41	chr12:32115000-32123800	Weak transcription	Osteobl	bone
42	chr12:32115000-32126200	Weak transcription	NHEK	skin
43	chr12:32115200-32118400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:32115200-32118600	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr12:32115200-32118600	Strong transcription	Placenta	Placenta
46	chr12:32115200-32118800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr12:32115200-32119200	Weak transcription	Rectal Smooth Muscle	rectum
48	chr12:32115200-32119400	Strong transcription	Fetal Muscle Leg	muscle
49	chr12:32115200-32120200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr12:32115400-32118800	Strong transcription	HUES64 Cell Line	embryonic stem cell

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