Variant report

Variant	rs3803164
Chromosome Location	chr12:1755654-1755655
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11061892	0.86[ASN][1000 genomes]
rs12422747	0.84[ASN][1000 genomes]
rs1859865	0.84[ASN][1000 genomes]
rs2010851	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2240507	0.91[CHB][hapmap]
rs2240508	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2240509	0.95[CHB][hapmap];0.83[CHD][hapmap];0.86[ASN][1000 genomes]
rs2240511	1.00[CHB][hapmap];0.86[CHD][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs2240512	0.95[CHB][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs2240513	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2240514	0.87[ASN][1000 genomes]
rs2270038	0.89[TSI][hapmap];0.83[EUR][1000 genomes]
rs2369972	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6489314	0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs735890	0.82[CHB][hapmap];0.81[CHD][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs735891	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1740800-1757400	Weak transcription	GM12878-XiMat	blood
2	chr12:1743600-1759000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:1744400-1759000	Weak transcription	Right Ventricle	heart
4	chr12:1744600-1758000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr12:1746600-1758000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr12:1747800-1755800	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr12:1747800-1756000	Weak transcription	K562	blood
8	chr12:1749200-1760200	Weak transcription	Gastric	stomach
9	chr12:1750000-1766800	Weak transcription	Pancreas	Pancrea
10	chr12:1752000-1769400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:1753200-1757000	Enhancers	Fetal Thymus	thymus
12	chr12:1753400-1765400	Weak transcription	Lung	lung
13	chr12:1753600-1756400	Enhancers	Fetal Brain Male	brain
14	chr12:1753600-1758000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:1754000-1756400	Strong transcription	Fetal Intestine Small	intestine
16	chr12:1754200-1755800	Weak transcription	HSMMtube	muscle
17	chr12:1754200-1756000	Weak transcription	Right Atrium	heart
18	chr12:1754200-1758200	Weak transcription	Left Ventricle	heart
19	chr12:1754200-1758800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:1754200-1758800	Weak transcription	Ovary	ovary
21	chr12:1754200-1762200	Weak transcription	Stomach Mucosa	stomach
22	chr12:1754200-1764400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:1754200-1764400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr12:1754200-1770600	Weak transcription	Colonic Mucosa	Colon
25	chr12:1754400-1756000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:1754400-1757200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:1754400-1757600	Strong transcription	Osteobl	bone
28	chr12:1754400-1759600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr12:1754400-1763800	Weak transcription	NHEK	skin
30	chr12:1754400-1764400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr12:1754400-1769000	Weak transcription	HMEC	breast
32	chr12:1754600-1755800	Weak transcription	Fetal Lung	lung
33	chr12:1754600-1756200	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr12:1754600-1757000	Enhancers	Primary B cells from peripheral blood	blood
35	chr12:1754600-1757200	Strong transcription	NHLF	lung
36	chr12:1754600-1757800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr12:1754600-1757800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:1754600-1757800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:1754600-1758000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr12:1754600-1759000	Strong transcription	Fetal Muscle Leg	muscle
41	chr12:1754600-1759600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr12:1754600-1761400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr12:1754600-1768800	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr12:1754800-1756400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr12:1754800-1756600	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr12:1754800-1758600	Strong transcription	NHDF-Ad	bronchial
47	chr12:1754800-1758800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr12:1754800-1759200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:1754800-1759800	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr12:1755000-1755800	Weak transcription	Brain Anterior Caudate	brain

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