Variant report

Variant	rs73230014
Chromosome Location	chr12:123403458-123403459
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123402481..123404237-chr12:123464744..123466864,2	MCF-7	breast:
2	chr12:123378389..123381690-chr12:123400568..123404300,4	MCF-7	breast:
3	chr12:123376693..123378580-chr12:123401920..123404894,2	MCF-7	breast:
4	chr12:123380536..123384809-chr12:123398917..123403904,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139722	Chromatin interaction
ENSG00000150967	Chromatin interaction
ENSG00000182196	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11057167	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11057171	1.00[AMR][1000 genomes]
rs11057173	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11057182	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11057186	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11060406	1.00[AMR][1000 genomes]
rs11060703	0.95[EUR][1000 genomes]
rs11060765	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11060942	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11061016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11061056	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11061244	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11061275	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11061613	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11061615	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12368208	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12371718	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12372667	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2343106	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2844287	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36004829	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs484200	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs523682	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56347904	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61751326	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7488814	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs947800	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs947801	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv899572	chr12:123292503-123477311	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv899573	chr12:123312051-123528405	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	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
5	nsv899576	chr12:123335527-123528405	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	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
7	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

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123395000-123408400	Weak transcription	Fetal Brain Female	brain
2	chr12:123400800-123404000	Enhancers	Rectal Mucosa Donor 29	rectum
3	chr12:123400800-123404200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:123400800-123404400	Enhancers	Placenta	Placenta
5	chr12:123400800-123407200	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr12:123401000-123405200	Enhancers	HMEC	breast
7	chr12:123401200-123403600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr12:123401200-123403600	Enhancers	Fetal Heart	heart
9	chr12:123401200-123404400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:123401200-123405200	Enhancers	Fetal Intestine Large	intestine
11	chr12:123401400-123417200	Weak transcription	Osteobl	bone
12	chr12:123401400-123425200	Weak transcription	Esophagus	oesophagus
13	chr12:123401400-123426000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:123401800-123405200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:123401800-123405200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:123401800-123405400	Enhancers	Fetal Intestine Small	intestine
17	chr12:123401800-123405600	Enhancers	Stomach Mucosa	stomach
18	chr12:123402000-123403600	Enhancers	Fetal Stomach	stomach
19	chr12:123402000-123404000	Enhancers	Fetal Lung	lung
20	chr12:123402600-123403600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:123402600-123403600	Weak transcription	NHEK	skin
22	chr12:123402600-123408400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:123402600-123416400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:123402600-123429200	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr12:123402800-123403800	Weak transcription	Spleen	Spleen
26	chr12:123402800-123404000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:123402800-123404200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr12:123402800-123404600	Weak transcription	K562	blood
29	chr12:123402800-123404800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr12:123402800-123408400	Weak transcription	Brain Anterior Caudate	brain
31	chr12:123402800-123414000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr12:123402800-123414200	Weak transcription	Ovary	ovary
33	chr12:123402800-123414600	Weak transcription	Brain Hippocampus Middle	brain
34	chr12:123402800-123415400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:123402800-123416400	Weak transcription	Brain Substantia Nigra	brain
36	chr12:123402800-123426600	Weak transcription	NHLF	lung
37	chr12:123402800-123429200	Weak transcription	Gastric	stomach
38	chr12:123402800-123430800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr12:123403000-123403600	Weak transcription	Colonic Mucosa	Colon
40	chr12:123403000-123404000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:123403000-123404000	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr12:123403000-123404000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr12:123403000-123404200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr12:123403000-123404200	Weak transcription	Hela-S3	cervix
45	chr12:123403000-123405800	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr12:123403000-123406400	Weak transcription	HSMMtube	muscle
47	chr12:123403000-123406600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:123403000-123408200	Weak transcription	Right Atrium	heart
49	chr12:123403000-123408400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr12:123403000-123409200	Weak transcription	Brain Germinal Matrix	brain

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