Variant report

Variant	rs12087316
Chromosome Location	chr1:151087552-151087553
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11554231	1.00[CEU][hapmap]
rs12076892	1.00[MEX][hapmap]
rs2864115	1.00[CEU][hapmap]
rs6666934	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
4	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
5	nsv872421	chr1:151055670-151098077	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151044400-151090200	Weak transcription	Gastric	stomach
2	chr1:151044400-151090400	Weak transcription	Right Ventricle	heart
3	chr1:151044400-151103600	Weak transcription	Small Intestine	intestine
4	chr1:151044800-151089400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:151044800-151098800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:151047200-151090400	Weak transcription	Dnd41	blood
7	chr1:151047400-151090400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr1:151047800-151089200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:151052200-151103000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:151060600-151090200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr1:151061800-151090400	Weak transcription	Fetal Kidney	kidney
12	chr1:151061800-151105600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr1:151062200-151088800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr1:151064200-151103400	Weak transcription	Colonic Mucosa	Colon
15	chr1:151067000-151103400	Weak transcription	Fetal Brain Male	brain
16	chr1:151068400-151090400	Weak transcription	Pancreas	Pancrea
17	chr1:151071400-151090400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr1:151072400-151091400	Weak transcription	Fetal Lung	lung
19	chr1:151074000-151101000	Weak transcription	Fetal Heart	heart
20	chr1:151077800-151090400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr1:151078000-151096400	Strong transcription	Fetal Intestine Small	intestine
22	chr1:151079200-151093800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:151079600-151090400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr1:151079600-151091400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:151079600-151096400	Weak transcription	Hela-S3	cervix
26	chr1:151079800-151089800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:151079800-151091600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:151079800-151097000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:151079800-151102000	Weak transcription	NHDF-Ad	bronchial
30	chr1:151079800-151103400	Weak transcription	NH-A	brain
31	chr1:151079800-151103400	Weak transcription	NHEK	skin
32	chr1:151079800-151103400	Weak transcription	NHLF	lung
33	chr1:151079800-151106200	Weak transcription	HSMMtube	muscle
34	chr1:151079800-151114800	Weak transcription	HSMM	muscle
35	chr1:151080000-151090600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:151080400-151089000	Weak transcription	Primary B cells from cord blood	blood
37	chr1:151080600-151090400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:151081000-151100800	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr1:151081200-151089200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr1:151081200-151089800	Weak transcription	Brain Cingulate Gyrus	brain
41	chr1:151081200-151089800	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr1:151081200-151090200	Weak transcription	Esophagus	oesophagus
43	chr1:151081200-151090400	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr1:151081200-151090400	Weak transcription	Brain Substantia Nigra	brain
45	chr1:151081200-151090400	Weak transcription	Lung	lung
46	chr1:151081200-151095000	Weak transcription	Aorta	Aorta
47	chr1:151081200-151102000	Weak transcription	Brain Germinal Matrix	brain
48	chr1:151081200-151103400	Weak transcription	GM12878-XiMat	blood
49	chr1:151081400-151089200	Weak transcription	Brain Angular Gyrus	brain
50	chr1:151081400-151089400	Weak transcription	Primary B cells from peripheral blood	blood

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