Variant report

Variant	rs11061611
Chromosome Location	chr12:123590742-123590743
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr12:123589909-123590759	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:123589646..123591494-chr12:123593029..123596172,4	K562	blood:
2	chr12:123500117..123502770-chr12:123590126..123592827,2	K562	blood:

Variant related genes	Relation type
PITPNM2	TF binding region
ENSG00000090975	Chromatin interaction
ENSG00000265603	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10219462	0.87[ASN][1000 genomes]
rs10431343	1.00[CHB][hapmap]
rs10846468	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10846469	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10846471	1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes]
rs10846473	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10846484	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs10846485	0.82[AMR][1000 genomes]
rs10848148	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[ASN][1000 genomes]
rs10848363	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10848365	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[MKK][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs10848429	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11057172	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11057175	1.00[AMR][1000 genomes]
rs11057180	1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11057244	1.00[JPT][hapmap]
rs11060888	0.87[ASN][1000 genomes]
rs11060932	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11060997	0.87[ASN][1000 genomes]
rs11060999	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11061166	1.00[ASN][1000 genomes]
rs11061589	0.82[AMR][1000 genomes]
rs11061601	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11061614	1.00[AMR][1000 genomes]
rs11061616	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12229119	0.87[ASN][1000 genomes]
rs12229884	0.87[ASN][1000 genomes]
rs12298355	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12302120	0.87[ASN][1000 genomes]
rs12302334	1.00[CHD][hapmap];0.82[MEX][hapmap]
rs12306711	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[MKK][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12311043	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.87[ASN][1000 genomes]
rs12311134	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12318389	1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12318594	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[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12319324	1.00[AMR][1000 genomes]
rs12366787	1.00[ASN][1000 genomes]
rs57310784	0.87[ASN][1000 genomes]
rs59002329	0.87[ASN][1000 genomes]
rs73408859	0.87[ASN][1000 genomes]
rs73408862	0.87[ASN][1000 genomes]
rs73408863	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1042550	chr12:123532028-123659500	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	esv1825473	chr12:123582855-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
6	nsv870326	chr12:123585990-123719323	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123561600-123604000	Genic enhancers	Fetal Thymus	thymus
2	chr12:123571200-123600000	Genic enhancers	Thymus	Thymus
3	chr12:123579800-123593600	Weak transcription	Fetal Intestine Large	intestine
4	chr12:123579800-123596200	Weak transcription	Osteobl	bone
5	chr12:123580000-123592600	Weak transcription	NHEK	skin
6	chr12:123580000-123593800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:123580200-123593200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr12:123580600-123596000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr12:123581000-123593000	Weak transcription	Pancreas	Pancrea
10	chr12:123581200-123593000	Weak transcription	Brain Germinal Matrix	brain
11	chr12:123581400-123591600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:123582200-123591200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:123582600-123591200	Weak transcription	Brain Hippocampus Middle	brain
14	chr12:123582800-123591200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr12:123582800-123591400	Weak transcription	Brain Substantia Nigra	brain
16	chr12:123582800-123592600	Weak transcription	Gastric	stomach
17	chr12:123583000-123591200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr12:123583000-123591400	Weak transcription	HSMM	muscle
19	chr12:123583000-123595800	Weak transcription	NHDF-Ad	bronchial
20	chr12:123583200-123599600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr12:123583600-123591800	Weak transcription	HSMMtube	muscle
22	chr12:123583600-123592000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr12:123584600-123593400	Weak transcription	Colonic Mucosa	Colon
24	chr12:123584800-123591800	Weak transcription	Colon Smooth Muscle	Colon
25	chr12:123586000-123592600	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr12:123586600-123591200	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr12:123586600-123591200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr12:123586800-123592200	Enhancers	HepG2	liver
29	chr12:123587200-123591600	Enhancers	Primary T cells from cord blood	blood
30	chr12:123587200-123595600	Enhancers	Liver	Liver
31	chr12:123587400-123591000	Weak transcription	Brain Anterior Caudate	brain
32	chr12:123587400-123591400	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr12:123587800-123591000	Weak transcription	K562	blood
34	chr12:123588000-123599000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr12:123588200-123591200	Weak transcription	Esophagus	oesophagus
36	chr12:123588200-123591200	Weak transcription	A549	lung
37	chr12:123588200-123591400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr12:123588200-123591400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr12:123588200-123592000	Weak transcription	NHLF	lung
40	chr12:123588200-123592800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr12:123588200-123593200	Weak transcription	Ovary	ovary
42	chr12:123589400-123591200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr12:123589400-123591400	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr12:123589400-123591400	Enhancers	Primary T cells fromperipheralblood	blood
45	chr12:123589400-123592000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:123589400-123592000	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr12:123589400-123592200	Enhancers	H1 Cell Line	embryonic stem cell
48	chr12:123589400-123592200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr12:123589400-123592200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr12:123589400-123592800	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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