Variant report

Variant	rs11062093
Chromosome Location	chr12:2166479-2166480
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:2165569..2167422-chr12:2392867..2394744,2	MCF-7	breast:
2	chr12:2166299..2167006-chr12:2226935..2227452,2	MCF-7	breast:
3	chr12:2166204..2166974-chr12:2393683..2394189,2	MCF-7	breast:
4	chr12:2166132..2166980-chr12:2393277..2394206,2	K562	blood:
5	chr12:2166110..2169668-chr12:2171220..2175217,3	MCF-7	breast:
6	chr12:2166117..2166680-chr12:2382193..2382914,2	MCF-7	breast:
7	chr12:2166075..2166709-chr12:2691940..2692766,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151067	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10161032	0.86[CHD][hapmap];0.88[GIH][hapmap];0.90[TSI][hapmap]
rs10848605	0.80[ASN][1000 genomes]
rs10848606	0.92[ASN][1000 genomes]
rs11062089	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11062091	0.98[ASN][1000 genomes]
rs11062094	0.97[ASN][1000 genomes]
rs12371253	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12371284	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2215095	1.00[ASN][1000 genomes]
rs2283269	0.85[YRI][hapmap]
rs2429151	0.88[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];0.90[TSI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs68133359	0.92[ASN][1000 genomes]
rs7132072	0.81[EUR][1000 genomes]
rs740456	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9888329	0.86[CHB][hapmap];0.87[JPT][hapmap];0.97[ASN][1000 genomes]
rs9888349	0.88[CHB][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9888368	0.86[CHB][hapmap];0.90[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948480	chr12:1776217-2284333	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv898598	chr12:1939252-2215448	Strong transcription Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1040370	chr12:2021395-2671017	Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv948400	chr12:2022411-2601363	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv521838	chr12:2060580-2299680	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1035885	chr12:2077660-2310157	Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv541350	chr12:2077660-2310157	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1038722	chr12:2085035-2308205	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv541351	chr12:2085035-2308205	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv898601	chr12:2124955-2215448	Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv826182	chr12:2136395-2208074	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv826183	chr12:2147469-2257818	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv898602	chr12:2149786-2223740	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11062093	PARP11	cis	parietal	SCAN

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:2161000-2167000	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr12:2162800-2178600	Enhancers	Fetal Heart	heart
3	chr12:2163600-2168600	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr12:2164200-2167200	Weak transcription	Brain Substantia Nigra	brain
5	chr12:2164400-2167600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr12:2164400-2173400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:2165000-2166800	Enhancers	NHDF-Ad	bronchial
8	chr12:2165000-2178000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:2165400-2166600	Weak transcription	Aorta	Aorta
10	chr12:2165400-2166600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr12:2165400-2172800	Weak transcription	Osteobl	bone
12	chr12:2165400-2173000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:2165600-2167600	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr12:2165800-2166600	Flanking Active TSS	Colon Smooth Muscle	Colon
15	chr12:2165800-2166600	Weak transcription	Right Ventricle	heart
16	chr12:2165800-2166800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr12:2165800-2172800	Weak transcription	NHLF	lung
18	chr12:2166000-2167000	Enhancers	Right Atrium	heart
19	chr12:2166200-2166600	Flanking Active TSS	Brain Angular Gyrus	brain
20	chr12:2166200-2166600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:2166200-2166800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:2166200-2167000	Bivalent Enhancer	Fetal Brain Female	brain
23	chr12:2166200-2167000	Enhancers	Left Ventricle	heart
24	chr12:2166200-2167000	Enhancers	Spleen	Spleen
25	chr12:2166200-2167200	Enhancers	Brain Hippocampus Middle	brain
26	chr12:2166200-2167400	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr12:2166200-2167600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:2166400-2166600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:2166400-2166600	Enhancers	Pancreas	Pancrea
30	chr12:2166400-2166600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
31	chr12:2166400-2166800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:2166400-2166800	Bivalent Enhancer	Fetal Intestine Large	intestine
33	chr12:2166400-2166800	Enhancers	Gastric	stomach
34	chr12:2166400-2166800	Enhancers	Ovary	ovary
35	chr12:2166400-2167000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr12:2166400-2167200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr12:2166400-2167200	Bivalent Enhancer	Fetal Stomach	stomach
38	chr12:2166400-2167200	Flanking Active TSS	Rectal Smooth Muscle	rectum
39	chr12:2166400-2167400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr12:2166400-2167600	Enhancers	Brain Anterior Caudate	brain
41	chr12:2166400-2173400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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