Variant report

Variant	rs11112164
Chromosome Location	chr12:105074039-105074040
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:105073759..105074369-chr12:105221012..105221706,2	MCF-7	breast:
2	chr12:105073708..105074536-chr12:105446439..105447355,3	MCF-7	breast:
3	chr12:104775827..104776339-chr12:105073605..105074446,2	MCF-7	breast:
4	chr12:105071577..105074645-chr12:105076983..105080645,3	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10861268	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[ASN][1000 genomes]
rs10861269	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11112155	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs11112156	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs11112157	0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11112158	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[ASN][1000 genomes]
rs11112159	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11112160	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.83[ASN][1000 genomes]
rs11112161	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11112162	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11112163	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[ASN][1000 genomes]
rs11112165	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11112167	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11112168	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11112169	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12228186	1.00[ASW][hapmap]
rs12581027	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2081808	1.00[ASW][hapmap]
rs703668	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs703669	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs703670	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs703673	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs703674	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs703675	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs703679	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs7133386	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1050695	chr12:105000981-105125161	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv541589	chr12:105000981-105125161	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105065400-105076000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:105065600-105075400	Weak transcription	Primary T cells from cord blood	blood
3	chr12:105066200-105074200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:105066200-105074200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr12:105066400-105074200	Weak transcription	Thymus	Thymus
6	chr12:105066600-105077800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:105067600-105076400	Weak transcription	Brain Anterior Caudate	brain
8	chr12:105067800-105076200	Weak transcription	Right Ventricle	heart
9	chr12:105067800-105076600	Weak transcription	Left Ventricle	heart
10	chr12:105067800-105078600	Weak transcription	Brain Substantia Nigra	brain
11	chr12:105067800-105096000	Weak transcription	K562	blood
12	chr12:105068000-105076000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr12:105068000-105077600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr12:105068200-105078600	Weak transcription	NHDF-Ad	bronchial
15	chr12:105068400-105076200	Weak transcription	Colon Smooth Muscle	Colon
16	chr12:105069400-105074200	Genic enhancers	Dnd41	blood
17	chr12:105069400-105076400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr12:105069800-105074600	Enhancers	Placenta	Placenta
19	chr12:105070600-105074800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr12:105070600-105076400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr12:105070800-105076600	Weak transcription	Lung	lung
22	chr12:105071200-105076000	Weak transcription	Fetal Stomach	stomach
23	chr12:105071200-105085800	Weak transcription	Brain Hippocampus Middle	brain
24	chr12:105071800-105076200	Weak transcription	Right Atrium	heart
25	chr12:105071800-105079200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:105071800-105085800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:105072200-105079400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr12:105072200-105089000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:105072800-105074200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:105072800-105074200	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr12:105072800-105076200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr12:105072800-105076200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:105073000-105074400	Enhancers	Fetal Muscle Trunk	muscle
34	chr12:105073000-105075000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr12:105073000-105075000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr12:105073000-105075600	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr12:105073000-105076200	Enhancers	Primary hematopoietic stem cells	blood
38	chr12:105073000-105077400	Weak transcription	Fetal Heart	heart
39	chr12:105073200-105074600	Enhancers	Fetal Muscle Leg	muscle
40	chr12:105073200-105076000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr12:105073200-105076400	Enhancers	Primary T cells fromperipheralblood	blood
42	chr12:105073200-105076400	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr12:105073400-105074200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr12:105073400-105074400	Enhancers	Spleen	Spleen
45	chr12:105073400-105074600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr12:105073400-105075200	Enhancers	Primary B cells from peripheral blood	blood
47	chr12:105073400-105076000	Enhancers	Primary B cells from cord blood	blood
48	chr12:105073400-105076200	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr12:105073400-105076200	Enhancers	GM12878-XiMat	blood
50	chr12:105073600-105074200	Weak transcription	Adipose Nuclei	Adipose

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