Variant report

Variant	rs735891
Chromosome Location	chr12:1754506-1754507
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10773974	0.80[AFR][1000 genomes]
rs11061892	0.87[ASN][1000 genomes]
rs12422747	0.81[ASN][1000 genomes]
rs1859865	0.81[ASN][1000 genomes]
rs2010851	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2240508	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2240509	0.86[ASN][1000 genomes]
rs2240511	0.91[ASN][1000 genomes]
rs2240512	0.90[ASN][1000 genomes]
rs2240513	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2240514	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2270038	0.83[EUR][1000 genomes]
rs2369972	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3803164	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6489314	0.84[ASN][1000 genomes]
rs735890	0.86[ASN][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	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
2	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
3	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
4	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
5	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
6	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
7	nsv898587	chr12:1732295-1756642	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
8	nsv898588	chr12:1736314-1755960	Bivalent Enhancer Enhancers Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	nsv898589	chr12:1738111-1755654	Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
10	nsv898590	chr12:1740171-1757743	Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
11	nsv898591	chr12:1745208-1755960	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
12	nsv468964	chr12:1749905-1769930	Strong transcription Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
13	nsv556995	chr12:1749905-1769930	Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1740600-1755000	Weak transcription	Spleen	Spleen
2	chr12:1740800-1757400	Weak transcription	GM12878-XiMat	blood
3	chr12:1743600-1759000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:1744400-1759000	Weak transcription	Right Ventricle	heart
5	chr12:1744600-1758000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr12:1746600-1758000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr12:1747800-1754600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr12:1747800-1755800	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr12:1747800-1756000	Weak transcription	K562	blood
10	chr12:1749200-1760200	Weak transcription	Gastric	stomach
11	chr12:1750000-1754800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:1750000-1766800	Weak transcription	Pancreas	Pancrea
13	chr12:1750600-1754800	Weak transcription	Thymus	Thymus
14	chr12:1751000-1755000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr12:1752000-1754800	Enhancers	Fetal Stomach	stomach
16	chr12:1752000-1769400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:1752400-1755000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:1752400-1755200	Enhancers	Fetal Heart	heart
19	chr12:1752400-1755600	Weak transcription	Fetal Intestine Large	intestine
20	chr12:1753000-1754600	Flanking Active TSS	Brain Germinal Matrix	brain
21	chr12:1753000-1754600	Enhancers	Fetal Lung	lung
22	chr12:1753200-1754600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr12:1753200-1754600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:1753200-1754600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:1753200-1754600	Enhancers	Fetal Muscle Trunk	muscle
26	chr12:1753200-1754600	Genic enhancers	NHLF	lung
27	chr12:1753200-1757000	Enhancers	Fetal Thymus	thymus
28	chr12:1753400-1755000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:1753400-1755000	Enhancers	Adipose Nuclei	Adipose
30	chr12:1753400-1765400	Weak transcription	Lung	lung
31	chr12:1753600-1754600	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr12:1753600-1754800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:1753600-1754800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:1753600-1756400	Enhancers	Fetal Brain Male	brain
35	chr12:1753600-1758000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr12:1753800-1754600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:1753800-1754600	Enhancers	Muscle Satellite Cultured Cells	--
38	chr12:1754000-1754600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr12:1754000-1754600	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr12:1754000-1756400	Strong transcription	Fetal Intestine Small	intestine
41	chr12:1754200-1754600	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr12:1754200-1754800	Weak transcription	Esophagus	oesophagus
43	chr12:1754200-1754800	Bivalent Enhancer	HepG2	liver
44	chr12:1754200-1755000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr12:1754200-1755200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr12:1754200-1755200	Weak transcription	Liver	Liver
47	chr12:1754200-1755800	Weak transcription	HSMMtube	muscle
48	chr12:1754200-1756000	Weak transcription	Right Atrium	heart
49	chr12:1754200-1758200	Weak transcription	Left Ventricle	heart
50	chr12:1754200-1758800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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