Variant report

Variant	rs73046451
Chromosome Location	chr12:2167103-2167104
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	chr12:2160826..2164021-chr12:2166670..2169761,3	MCF-7	breast:
3	chr12:2166110..2169668-chr12:2171220..2175217,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151067	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs2429149	0.82[AMR][1000 genomes]
rs55683572	0.86[AMR][1000 genomes]
rs55745807	0.86[AMR][1000 genomes]
rs55751814	0.86[AMR][1000 genomes]
rs55762621	0.86[AMR][1000 genomes]
rs55895736	0.86[AMR][1000 genomes]
rs55964304	0.86[AMR][1000 genomes]
rs56018122	1.00[AFR][1000 genomes]
rs56088348	0.86[AMR][1000 genomes]
rs56305330	0.86[AMR][1000 genomes]
rs73044413	0.84[AMR][1000 genomes]
rs73044427	0.86[AMR][1000 genomes]
rs73044433	0.86[AMR][1000 genomes]
rs73044434	0.86[AMR][1000 genomes]
rs73044436	0.86[AMR][1000 genomes]
rs73044444	0.86[AMR][1000 genomes]
rs73044446	0.86[AMR][1000 genomes]
rs73044447	0.86[AMR][1000 genomes]
rs73044457	0.86[AMR][1000 genomes]
rs73044476	1.00[AMR][1000 genomes]
rs73044478	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs73044480	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs73046444	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs73046455	1.00[AFR][1000 genomes]
rs73046458	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7956039	0.86[AMR][1000 genomes]
rs7958309	0.86[AMR][1000 genomes]
rs7958898	0.86[AMR][1000 genomes]
rs7970196	0.86[AMR][1000 genomes]
rs7971903	0.86[AMR][1000 genomes]
rs7976547	0.86[AMR][1000 genomes]

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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:2162800-2178600	Enhancers	Fetal Heart	heart
2	chr12:2163600-2168600	Flanking Active TSS	Stomach Smooth Muscle	stomach
3	chr12:2164200-2167200	Weak transcription	Brain Substantia Nigra	brain
4	chr12:2164400-2167600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr12:2164400-2173400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:2165000-2178000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:2165400-2172800	Weak transcription	Osteobl	bone
8	chr12:2165400-2173000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:2165600-2167600	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr12:2165800-2172800	Weak transcription	NHLF	lung
11	chr12:2166200-2167200	Enhancers	Brain Hippocampus Middle	brain
12	chr12:2166200-2167400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr12:2166200-2167600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:2166400-2167200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:2166400-2167200	Bivalent Enhancer	Fetal Stomach	stomach
16	chr12:2166400-2167200	Flanking Active TSS	Rectal Smooth Muscle	rectum
17	chr12:2166400-2167400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:2166400-2167600	Enhancers	Brain Anterior Caudate	brain
19	chr12:2166400-2173400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:2166600-2167200	Enhancers	H1 Cell Line	embryonic stem cell
21	chr12:2166600-2167200	Enhancers	Right Ventricle	heart
22	chr12:2166600-2167400	Enhancers	Brain Cingulate Gyrus	brain
23	chr12:2166600-2167600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:2166800-2167600	Active TSS	Aorta	Aorta
25	chr12:2166800-2167600	Weak transcription	Brain Angular Gyrus	brain
26	chr12:2166800-2168200	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr12:2166800-2168400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:2166800-2170600	Weak transcription	Ovary	ovary
29	chr12:2166800-2177400	Weak transcription	NHDF-Ad	bronchial
30	chr12:2167000-2167200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr12:2167000-2167200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr12:2167000-2167200	Flanking Active TSS	Colon Smooth Muscle	Colon
33	chr12:2167000-2167200	Enhancers	Fetal Brain Male	brain
34	chr12:2167000-2167600	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr12:2167000-2168000	Weak transcription	Left Ventricle	heart
36	chr12:2167000-2168000	Weak transcription	Right Atrium	heart
37	chr12:2167000-2168200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr12:2167000-2168200	Weak transcription	Lung	lung
39	chr12:2167000-2168400	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr12:2167000-2173400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr12:2167000-2173400	Weak transcription	Spleen	Spleen

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