Variant report

Variant	rs7132517
Chromosome Location	chr12:123535672-123535673
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123533124..123537344-chr12:123538180..123541339,4	MCF-7	breast:
2	chr12:123534343..123536820-chr12:123551727..123554090,2	K562	blood:
3	chr12:123534522..123536134-chr12:123540599..123542732,2	K562	blood:
4	chr12:123520702..123523176-chr12:123533102..123535856,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10848426	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11060881	1.00[MEX][hapmap]
rs11060946	0.92[ASW][hapmap]
rs12312372	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12318362	0.92[AFR][1000 genomes]
rs4080877	1.00[MEX][hapmap]
rs6489249	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6489252	0.92[ASW][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap]
rs7302976	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7313800	0.82[AFR][1000 genomes]
rs7966050	0.92[ASW][hapmap];1.00[MEX][hapmap];0.89[YRI][hapmap]

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	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	nsv832532	chr12:123395927-123573137	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv832533	chr12:123395927-123589290	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	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
6	nsv455732	chr12:123427573-123574838	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv560492	chr12:123427573-123574838	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv560494	chr12:123478378-123560731	Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
9	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7132517	GPR109B	cis	lymphoblastoid	seeQTL
rs7132517	VPS37B	cis	lymphoblastoid	seeQTL
rs7132517	ABCB9	cis	lymphoblastoid	seeQTL

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123504400-123540200	Weak transcription	Hela-S3	cervix
2	chr12:123518800-123540600	Weak transcription	HepG2	liver
3	chr12:123519000-123540400	Weak transcription	Gastric	stomach
4	chr12:123519000-123543400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:123528200-123542400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr12:123528600-123545800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr12:123528800-123541400	Weak transcription	Primary B cells from peripheral blood	blood
8	chr12:123529000-123540400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr12:123529400-123538800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr12:123529400-123544600	Weak transcription	Small Intestine	intestine
11	chr12:123529600-123546200	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr12:123529800-123537800	Genic enhancers	Fetal Thymus	thymus
13	chr12:123529800-123548200	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr12:123530200-123538800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:123530800-123540600	Weak transcription	Colonic Mucosa	Colon
16	chr12:123530800-123544600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr12:123532200-123538800	Weak transcription	Primary B cells from cord blood	blood
18	chr12:123532200-123540200	Weak transcription	Brain Substantia Nigra	brain
19	chr12:123532400-123546600	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr12:123532800-123543400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:123533000-123538800	Weak transcription	Primary T cells from cord blood	blood
22	chr12:123533200-123536400	Genic enhancers	Thymus	Thymus
23	chr12:123533400-123536000	Enhancers	Liver	Liver
24	chr12:123533600-123536600	Enhancers	Rectal Smooth Muscle	rectum
25	chr12:123533600-123537200	Enhancers	Left Ventricle	heart
26	chr12:123533800-123535800	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr12:123533800-123535800	Enhancers	Fetal Brain Male	brain
28	chr12:123533800-123535800	Enhancers	Psoas Muscle	Psoas
29	chr12:123533800-123535800	Enhancers	Right Atrium	heart
30	chr12:123533800-123535800	Enhancers	Right Ventricle	heart
31	chr12:123533800-123535800	Enhancers	NHDF-Ad	bronchial
32	chr12:123533800-123536000	Enhancers	Brain Anterior Caudate	brain
33	chr12:123533800-123536000	Enhancers	Fetal Muscle Leg	muscle
34	chr12:123533800-123536000	Enhancers	Placenta Amnion	Placenta Amnion
35	chr12:123533800-123536600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr12:123533800-123536600	Enhancers	Fetal Heart	heart
37	chr12:123533800-123537000	Enhancers	Colon Smooth Muscle	Colon
38	chr12:123534000-123535800	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr12:123534000-123536400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr12:123534200-123536000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr12:123534200-123536000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:123534200-123536200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:123534600-123535800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:123534600-123535800	Enhancers	Ovary	ovary
45	chr12:123534600-123535800	Enhancers	Pancreas	Pancrea
46	chr12:123534600-123536400	Enhancers	Adipose Nuclei	Adipose
47	chr12:123534600-123537000	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr12:123534800-123535800	Enhancers	Esophagus	oesophagus
49	chr12:123534800-123535800	Enhancers	Fetal Stomach	stomach
50	chr12:123534800-123535800	Enhancers	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links