Variant report

Variant	rs1718161
Chromosome Location	chr12:121627458-121627459
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12301635	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12304035	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12321707	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12815078	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12821688	0.97[ASN][1000 genomes]
rs1653583	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1653585	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1718124	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1718162	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1794887	1.00[JPT][hapmap]
rs2051551	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs208288	0.82[CHB][hapmap]
rs208310	1.00[CHB][hapmap]
rs2686369	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2686371	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2686385	0.82[AMR][1000 genomes]
rs2857588	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2857589	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs34405253	0.97[ASN][1000 genomes]
rs34481602	0.91[ASN][1000 genomes]
rs487417	0.82[CHB][hapmap]
rs535557	0.82[CHB][hapmap]
rs568531	0.82[CHB][hapmap]
rs607094	0.82[CHB][hapmap]
rs66850672	0.97[ASN][1000 genomes]
rs7137837	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73220272	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121583000-121634600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr12:121583800-121634400	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr12:121594200-121627600	Weak transcription	Right Ventricle	heart
4	chr12:121596200-121629000	Weak transcription	Left Ventricle	heart
5	chr12:121596400-121634200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr12:121602400-121634600	Weak transcription	Fetal Thymus	thymus
7	chr12:121610800-121628800	Weak transcription	Right Atrium	heart
8	chr12:121612600-121630200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:121614000-121634600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr12:121614200-121628800	Weak transcription	Adipose Nuclei	Adipose
11	chr12:121620400-121634200	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr12:121622600-121627600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:121622600-121627600	Weak transcription	Pancreas	Pancrea
14	chr12:121622800-121634200	Weak transcription	Placenta	Placenta
15	chr12:121622800-121634400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:121623000-121628200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:121623000-121628200	Weak transcription	NHEK	skin
18	chr12:121623200-121629000	Weak transcription	Spleen	Spleen
19	chr12:121623600-121634200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr12:121623600-121634200	Weak transcription	Liver	Liver
21	chr12:121623600-121634400	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr12:121624000-121628600	Weak transcription	Primary B cells from cord blood	blood
23	chr12:121624200-121629600	Weak transcription	Brain Hippocampus Middle	brain
24	chr12:121624200-121647200	Weak transcription	Brain Anterior Caudate	brain
25	chr12:121624400-121629600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr12:121624600-121631600	Enhancers	HUVEC	blood vessel
27	chr12:121624800-121630200	Weak transcription	Brain Substantia Nigra	brain
28	chr12:121625600-121634400	Weak transcription	Primary T cells from cord blood	blood
29	chr12:121625600-121647200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr12:121626400-121627600	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr12:121626400-121629800	Weak transcription	Brain Angular Gyrus	brain
32	chr12:121626800-121628400	Enhancers	Ovary	ovary
33	chr12:121627000-121628600	Enhancers	NH-A	brain
34	chr12:121627000-121629200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:121627200-121627800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr12:121627200-121628000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:121627200-121628000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:121627200-121628000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr12:121627200-121628600	Enhancers	NHDF-Ad	bronchial
40	chr12:121627200-121628800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr12:121627200-121628800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:121627200-121628800	Enhancers	K562	blood
43	chr12:121627400-121627600	Genic enhancers	Brain Inferior Temporal Lobe	brain
44	chr12:121627400-121627600	Enhancers	GM12878-XiMat	blood
45	chr12:121627400-121627800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr12:121627400-121628000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:121627400-121628000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr12:121627400-121628200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr12:121627400-121628400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:121627400-121628400	Enhancers	Monocytes-CD14+_RO01746	blood

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