Variant report

Variant	rs71454830
Chromosome Location	chr12:1692735-1692736
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:1227298..1227818-chr12:1692371..1693274,3	MCF-7	breast:
2	chr12:1226854..1227823-chr12:1692350..1693666,4	MCF-7	breast:
3	chr12:1226889..1227794-chr12:1691636..1693148,4	K562	blood:
4	chr12:1691367..1694313-chr12:1697281..1700440,3	MCF-7	breast:
5	chr12:1690585..1692934-chr12:1917638..1919676,2	K562	blood:
6	chr12:551637..552181-chr12:1692709..1693253,2	K562	blood:
7	chr12:1690515..1695848-chr12:1701447..1705019,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171823	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11061910	1.00[ASN][1000 genomes]
rs12816304	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12818971	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12822334	1.00[ASN][1000 genomes]
rs12827353	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12827787	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12828057	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16928611	1.00[ASN][1000 genomes]
rs16928615	1.00[ASN][1000 genomes]
rs34162487	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34630671	0.85[AMR][1000 genomes]
rs35158962	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35177332	1.00[ASN][1000 genomes]
rs35245056	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35316910	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35391324	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35444259	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35538655	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35710824	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35910263	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36030303	1.00[AFR][1000 genomes]
rs56089042	1.00[ASN][1000 genomes]
rs56110457	1.00[ASN][1000 genomes]
rs56832868	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61914792	1.00[ASN][1000 genomes]
rs61914793	1.00[ASN][1000 genomes]
rs61914794	1.00[ASN][1000 genomes]
rs6489317	1.00[ASN][1000 genomes]
rs67017750	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132752	1.00[AFR][1000 genomes]
rs71454831	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73040750	1.00[AFR][1000 genomes]
rs7307418	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045278	chr12:920251-1697030	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv529398	chr12:941915-1741311	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1042863	chr12:1163817-1902302	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv541345	chr12:1163817-1902302	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	esv3397478	chr12:1535455-1730159	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv898584	chr12:1607390-1783251	Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv826180	chr12:1614395-1759431	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv826181	chr12:1619798-1754941	Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv470258	chr12:1670493-1698010	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv898586	chr12:1690140-1734365	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1679600-1697000	Weak transcription	HSMMtube	muscle
2	chr12:1685000-1695000	Weak transcription	Thymus	Thymus
3	chr12:1685200-1698000	Weak transcription	Spleen	Spleen
4	chr12:1685600-1695000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:1685600-1699600	Weak transcription	Esophagus	oesophagus
6	chr12:1685800-1699800	Weak transcription	Right Ventricle	heart
7	chr12:1686000-1693000	Enhancers	NHDF-Ad	bronchial
8	chr12:1686000-1697000	Weak transcription	Aorta	Aorta
9	chr12:1686000-1698000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr12:1686400-1693000	Weak transcription	Colonic Mucosa	Colon
11	chr12:1686400-1696800	Weak transcription	Brain Angular Gyrus	brain
12	chr12:1686400-1698000	Weak transcription	Left Ventricle	heart
13	chr12:1686600-1697000	Weak transcription	Fetal Brain Female	brain
14	chr12:1686600-1697000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr12:1687000-1693600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:1687000-1699200	Weak transcription	Pancreas	Pancrea
17	chr12:1687000-1699600	Weak transcription	Ovary	ovary
18	chr12:1687200-1695000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr12:1688800-1695400	Weak transcription	Primary B cells from cord blood	blood
20	chr12:1690000-1692800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:1690200-1697000	Weak transcription	Brain Germinal Matrix	brain
22	chr12:1690400-1701000	Weak transcription	Gastric	stomach
23	chr12:1690600-1693200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:1690600-1696600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr12:1690600-1699800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:1690800-1692800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:1690800-1695000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:1690800-1695600	Weak transcription	Fetal Stomach	stomach
29	chr12:1690800-1699600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:1690800-1699800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr12:1691000-1693000	Enhancers	Fetal Muscle Leg	muscle
32	chr12:1691000-1693200	Enhancers	NHLF	lung
33	chr12:1691000-1695000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr12:1691000-1697000	Weak transcription	Fetal Heart	heart
35	chr12:1691000-1698600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:1691000-1699800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr12:1691200-1693600	Weak transcription	Primary T cells from cord blood	blood
38	chr12:1691200-1697200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:1691200-1699800	Weak transcription	Lung	lung
40	chr12:1691400-1693000	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr12:1691400-1697200	Weak transcription	Fetal Brain Male	brain
42	chr12:1691800-1692800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:1691800-1699600	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr12:1691800-1699800	Weak transcription	Placenta	Placenta
45	chr12:1692000-1693200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:1692000-1693200	Enhancers	HMEC	breast
47	chr12:1692000-1693800	Enhancers	Rectal Smooth Muscle	rectum
48	chr12:1692200-1693400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr12:1692200-1693400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr12:1692400-1692800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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