Variant report

Variant	rs34630671
Chromosome Location	chr12:1726819-1726820
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12816304	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12818971	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12827353	1.00[AMR][1000 genomes]
rs12827787	1.00[AMR][1000 genomes]
rs12828057	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34162487	0.85[AMR][1000 genomes]
rs35158962	1.00[AMR][1000 genomes]
rs35245056	1.00[AMR][1000 genomes]
rs35316910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35391324	1.00[AMR][1000 genomes]
rs35444259	0.85[AMR][1000 genomes]
rs35710824	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35910263	1.00[AMR][1000 genomes]
rs71454830	0.85[AMR][1000 genomes]
rs71454831	1.00[AMR][1000 genomes]
rs7307418	0.92[EUR][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	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	esv1834423	chr12:1703324-1727170	Active TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv832304	chr12:1710249-1868642	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1715400-1738600	Weak transcription	Right Atrium	heart
2	chr12:1716200-1734600	Weak transcription	Fetal Stomach	stomach
3	chr12:1717000-1728800	Weak transcription	Lung	lung
4	chr12:1719600-1728000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:1720200-1727200	Weak transcription	Fetal Intestine Small	intestine
6	chr12:1720200-1727200	Weak transcription	Stomach Mucosa	stomach
7	chr12:1721000-1734400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr12:1721600-1727400	Weak transcription	Adipose Nuclei	Adipose
9	chr12:1721800-1727200	Weak transcription	NHLF	lung
10	chr12:1721800-1727800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:1721800-1734600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:1721800-1738600	Weak transcription	Fetal Brain Female	brain
13	chr12:1722200-1727400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:1722200-1727400	Weak transcription	Osteobl	bone
15	chr12:1722200-1727600	Weak transcription	NH-A	brain
16	chr12:1723000-1727600	Enhancers	K562	blood
17	chr12:1724000-1727000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:1724000-1727400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:1724000-1731600	Weak transcription	Fetal Muscle Leg	muscle
20	chr12:1724000-1737600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:1724400-1727600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr12:1724400-1727600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:1724800-1727000	Enhancers	HMEC	breast
24	chr12:1724800-1727800	Weak transcription	NHDF-Ad	bronchial
25	chr12:1724800-1734200	Weak transcription	HSMM	muscle
26	chr12:1725000-1729600	Enhancers	Primary hematopoietic stem cells	blood
27	chr12:1725200-1727400	Enhancers	Fetal Thymus	thymus
28	chr12:1725200-1729200	Enhancers	Primary B cells from peripheral blood	blood
29	chr12:1725800-1735200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr12:1726200-1727000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr12:1726200-1727400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:1726200-1727400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:1726200-1728400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr12:1726200-1729200	Weak transcription	Spleen	Spleen
35	chr12:1726200-1729800	Enhancers	Primary B cells from cord blood	blood
36	chr12:1726200-1729800	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr12:1726400-1727400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr12:1726400-1727400	Weak transcription	GM12878-XiMat	blood
39	chr12:1726400-1727800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:1726400-1727800	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr12:1726400-1728000	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr12:1726400-1728000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr12:1726400-1728000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr12:1726600-1728200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr12:1726600-1729600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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