Variant report

Variant	rs7962897
Chromosome Location	chr12:32147712-32147713
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32146985..32148655-chr12:32151850..32154209,2	MCF-7	breast:
2	chr12:31880053..31882994-chr12:32145779..32148383,2	K562	blood:

Variant related genes	Relation type
ENSG00000151743	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10771891	0.86[CHB][hapmap]
rs4931593	0.86[CHB][hapmap];0.83[CHD][hapmap];0.86[JPT][hapmap]

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	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
2	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
3	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
4	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
5	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
6	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
7	esv3430326	chr12:32142734-32216569	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	esv3410287	chr12:32142734-32219420	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7962897	C12orf72	cis	parietal	SCAN
rs7962897	PTHLH	cis	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32114000-32150800	Weak transcription	NHLF	lung
2	chr12:32128800-32150600	Weak transcription	Hela-S3	cervix
3	chr12:32130400-32150200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr12:32134800-32149400	Weak transcription	Esophagus	oesophagus
5	chr12:32134800-32149800	Weak transcription	Pancreas	Pancrea
6	chr12:32134800-32151000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:32134800-32155400	Weak transcription	NHDF-Ad	bronchial
8	chr12:32135000-32147800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr12:32135000-32148600	Weak transcription	Brain Hippocampus Middle	brain
10	chr12:32135000-32149200	Weak transcription	Brain Substantia Nigra	brain
11	chr12:32135000-32149800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr12:32135000-32149800	Weak transcription	Colon Smooth Muscle	Colon
13	chr12:32135000-32150000	Weak transcription	Right Ventricle	heart
14	chr12:32135000-32150200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr12:32135000-32150800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:32135000-32156000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr12:32135000-32156400	Weak transcription	Gastric	stomach
18	chr12:32135200-32148200	Weak transcription	Brain Angular Gyrus	brain
19	chr12:32135600-32148800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr12:32136000-32150000	Weak transcription	Aorta	Aorta
21	chr12:32136000-32150600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr12:32136000-32155000	Weak transcription	HSMMtube	muscle
23	chr12:32136200-32150600	Weak transcription	Psoas Muscle	Psoas
24	chr12:32136200-32155400	Weak transcription	Osteobl	bone
25	chr12:32136400-32151000	Weak transcription	NH-A	brain
26	chr12:32136600-32149600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:32136600-32150800	Weak transcription	HSMM	muscle
28	chr12:32137200-32158600	Weak transcription	HUVEC	blood vessel
29	chr12:32137600-32151400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr12:32138200-32147800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr12:32138400-32148800	Weak transcription	Fetal Kidney	kidney
32	chr12:32138400-32149200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr12:32139200-32153800	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr12:32139200-32154400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:32139800-32153800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr12:32139800-32154200	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr12:32140200-32156200	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr12:32140800-32148000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
39	chr12:32140800-32156600	Strong transcription	Thymus	Thymus
40	chr12:32141400-32154200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr12:32141400-32154800	Strong transcription	Fetal Intestine Large	intestine
42	chr12:32141400-32154800	Strong transcription	Fetal Intestine Small	intestine
43	chr12:32141400-32156200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:32141600-32148600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:32141800-32148400	Weak transcription	Colonic Mucosa	Colon
46	chr12:32141800-32150400	Weak transcription	Fetal Lung	lung
47	chr12:32141800-32154200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr12:32141800-32155000	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr12:32142200-32155800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr12:32142600-32155000	Strong transcription	Liver	Liver

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