Variant report

Variant	rs4931000
Chromosome Location	chr12:32141495-32141496
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10743773	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10771895	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2166807	1.00[CEU][hapmap];0.90[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2388982	0.82[CHB][hapmap];0.81[LWK][hapmap];0.82[MEX][hapmap];0.87[MKK][hapmap]
rs3759301	0.84[JPT][hapmap]
rs4930999	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4931002	0.84[ASW][hapmap];0.95[CEU][hapmap];0.90[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.94[MEX][hapmap];0.98[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4931004	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4931005	0.83[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6488023	0.82[ASN][1000 genomes]
rs7302975	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4931000	C12orf72	cis	cerebellum	SCAN

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32114000-32150800	Weak transcription	NHLF	lung
2	chr12:32116000-32141800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
3	chr12:32116400-32143200	ZNF genes & repeats	GM12878-XiMat	blood
4	chr12:32120600-32141600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:32121800-32141600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
6	chr12:32123200-32143800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
7	chr12:32123400-32143200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
8	chr12:32123800-32143200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
9	chr12:32128800-32150600	Weak transcription	Hela-S3	cervix
10	chr12:32130400-32150200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr12:32132800-32147200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:32133600-32142000	ZNF genes & repeats	Brain Germinal Matrix	brain
13	chr12:32134800-32142400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:32134800-32149400	Weak transcription	Esophagus	oesophagus
15	chr12:32134800-32149800	Weak transcription	Pancreas	Pancrea
16	chr12:32134800-32151000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:32134800-32155400	Weak transcription	NHDF-Ad	bronchial
18	chr12:32135000-32141600	Weak transcription	Lung	lung
19	chr12:32135000-32142400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr12:32135000-32143000	Weak transcription	Spleen	Spleen
21	chr12:32135000-32147800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr12:32135000-32148600	Weak transcription	Brain Hippocampus Middle	brain
23	chr12:32135000-32149200	Weak transcription	Brain Substantia Nigra	brain
24	chr12:32135000-32149800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr12:32135000-32149800	Weak transcription	Colon Smooth Muscle	Colon
26	chr12:32135000-32150000	Weak transcription	Right Ventricle	heart
27	chr12:32135000-32150200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr12:32135000-32150800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr12:32135000-32156000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr12:32135000-32156400	Weak transcription	Gastric	stomach
31	chr12:32135200-32148200	Weak transcription	Brain Angular Gyrus	brain
32	chr12:32135400-32142400	Weak transcription	NHEK	skin
33	chr12:32135600-32148800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr12:32135800-32142800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr12:32136000-32142400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr12:32136000-32142600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:32136000-32142800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:32136000-32150000	Weak transcription	Aorta	Aorta
39	chr12:32136000-32150600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr12:32136000-32155000	Weak transcription	HSMMtube	muscle
41	chr12:32136200-32144200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:32136200-32150600	Weak transcription	Psoas Muscle	Psoas
43	chr12:32136200-32155400	Weak transcription	Osteobl	bone
44	chr12:32136400-32143600	Strong transcription	Dnd41	blood
45	chr12:32136400-32151000	Weak transcription	NH-A	brain
46	chr12:32136600-32142400	Weak transcription	Brain Anterior Caudate	brain
47	chr12:32136600-32142600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr12:32136600-32144800	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr12:32136600-32149600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr12:32136600-32150800	Weak transcription	HSMM	muscle

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