Variant report

Variant	rs12031030
Chromosome Location	chr1:170012836-170012837
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11526503	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12032699	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12036604	1.00[EUR][1000 genomes]
rs12038006	1.00[EUR][1000 genomes]
rs1330369	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1330378	0.82[CHB][hapmap]
rs16862753	1.00[CEU][hapmap]
rs16862773	1.00[CEU][hapmap]
rs16862831	0.82[JPT][hapmap]
rs16862905	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16862931	0.87[JPT][hapmap]
rs16862963	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16862985	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3790393	0.82[JPT][hapmap]
rs3790404	1.00[CEU][hapmap];0.81[JPT][hapmap]
rs56694179	1.00[EUR][1000 genomes]
rs56919297	1.00[EUR][1000 genomes]
rs58179539	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60882156	0.87[ASN][1000 genomes]
rs61631513	1.00[EUR][1000 genomes]
rs61745741	1.00[EUR][1000 genomes]
rs6681074	0.85[AMR][1000 genomes]
rs6686398	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73023503	1.00[EUR][1000 genomes]
rs73023515	1.00[EUR][1000 genomes]
rs73023591	1.00[EUR][1000 genomes]
rs73041152	1.00[EUR][1000 genomes]
rs73041162	1.00[EUR][1000 genomes]
rs74122304	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs74122307	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74122310	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs74122311	0.85[AMR][1000 genomes]
rs7674	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014033	chr1:169968488-170453021	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535200	chr1:169968488-170453021	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169952000-170018000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr1:169952400-170043000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr1:169967600-170013000	Weak transcription	Fetal Heart	heart
4	chr1:169968800-170020200	Weak transcription	Brain Angular Gyrus	brain
5	chr1:169969600-170017800	Weak transcription	Esophagus	oesophagus
6	chr1:169979400-170018000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:169979800-170015200	Weak transcription	HMEC	breast
8	chr1:169981600-170013400	Weak transcription	Lung	lung
9	chr1:169982400-170020600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:169983000-170017200	Weak transcription	HSMMtube	muscle
11	chr1:169983800-170017600	Weak transcription	Spleen	Spleen
12	chr1:169984600-170020800	Weak transcription	Gastric	stomach
13	chr1:169984800-170027600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr1:169985200-170020400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr1:169986400-170013600	Weak transcription	Left Ventricle	heart
16	chr1:169986400-170019800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:169988000-170017600	Weak transcription	Fetal Lung	lung
18	chr1:169989600-170019800	Weak transcription	Right Ventricle	heart
19	chr1:169989800-170013400	Weak transcription	Psoas Muscle	Psoas
20	chr1:169990400-170017200	Weak transcription	Fetal Kidney	kidney
21	chr1:169993600-170021400	Weak transcription	Fetal Brain Male	brain
22	chr1:169995400-170017800	Weak transcription	Pancreas	Pancrea
23	chr1:169997800-170017600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:169997800-170018600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:169999800-170017600	Weak transcription	Colonic Mucosa	Colon
26	chr1:169999800-170036600	Weak transcription	Small Intestine	intestine
27	chr1:170000800-170014200	Weak transcription	Placenta	Placenta
28	chr1:170001800-170016200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr1:170001800-170017400	Weak transcription	NH-A	brain
30	chr1:170002200-170014200	Weak transcription	Osteobl	bone
31	chr1:170002400-170013200	Weak transcription	NHLF	lung
32	chr1:170002400-170017000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr1:170002800-170036400	Weak transcription	NHDF-Ad	bronchial
34	chr1:170003000-170017800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:170003200-170013400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:170003200-170017600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr1:170003600-170027600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr1:170005000-170017800	Weak transcription	Fetal Intestine Small	intestine
39	chr1:170005000-170020200	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr1:170005200-170025200	Weak transcription	Brain Substantia Nigra	brain
41	chr1:170005600-170019400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr1:170006000-170018000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr1:170007000-170017400	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr1:170007000-170026200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:170007200-170013200	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr1:170007200-170017800	Weak transcription	Fetal Brain Female	brain
47	chr1:170007600-170031800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:170008200-170032200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:170008400-170017800	Weak transcription	Liver	Liver
50	chr1:170008600-170020400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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