Variant report

Variant	rs12032485
Chromosome Location	chr1:67118747-67118748
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:67117841..67120415-chr1:67120949..67123925,2	K562	blood:

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10443224	1.00[CEU][hapmap];0.91[CHB][hapmap];0.96[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10493410	0.87[JPT][hapmap]
rs11208909	0.83[CHB][hapmap];0.88[JPT][hapmap]
rs11208915	0.91[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes]
rs11208920	1.00[JPT][hapmap]
rs11208923	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11208926	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11208931	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11208938	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];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11208941	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs1159851	0.82[CHB][hapmap];0.87[JPT][hapmap]
rs11799970	0.83[CHB][hapmap];0.88[JPT][hapmap]
rs11806387	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs12027701	0.88[CEU][hapmap]
rs12032691	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12037314	0.90[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes]
rs12039010	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs12040170	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12041078	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs12044655	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12045543	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12048321	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12049347	0.91[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes]
rs12116888	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12120279	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12125455	0.82[CHB][hapmap];0.87[JPT][hapmap]
rs12126819	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12127199	0.99[ASN][1000 genomes]
rs12127654	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12127884	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12128429	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs12128496	0.87[CHB][hapmap];0.87[JPT][hapmap]
rs12129319	0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12131306	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12131909	0.82[CHB][hapmap];0.87[JPT][hapmap]
rs12135689	1.00[CEU][hapmap];0.92[CHB][hapmap];0.96[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12135797	0.83[EUR][1000 genomes]
rs12138066	0.99[ASN][1000 genomes]
rs12139975	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12725322	0.83[CHB][hapmap];0.88[JPT][hapmap]
rs12726588	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12729740	1.00[CEU][hapmap];0.92[CHB][hapmap];0.96[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12731043	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12731104	0.83[CHB][hapmap];0.88[JPT][hapmap]
rs12731112	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs12746750	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes]
rs12751879	0.83[CHB][hapmap];0.88[JPT][hapmap]
rs1373910	0.87[CHB][hapmap];0.87[JPT][hapmap]
rs1536114	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1570814	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17129280	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1900105	0.91[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes]
rs1975523	0.82[CHB][hapmap];0.87[JPT][hapmap]
rs1998717	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]
rs1998718	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2121041	0.83[CHB][hapmap];0.88[JPT][hapmap]
rs2312154	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs34007277	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35156185	0.81[AMR][1000 genomes]
rs35902414	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35939197	0.81[AMR][1000 genomes]
rs4233317	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4428858	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4462119	1.00[CEU][hapmap];0.92[CHB][hapmap];0.96[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4488004	0.91[CHB][hapmap];0.96[JPT][hapmap]
rs4655499	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4655500	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4655501	0.91[CEU][hapmap];0.92[CHB][hapmap];0.96[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4655502	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4655503	1.00[CEU][hapmap];0.92[CHB][hapmap];0.96[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4655619	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs4655621	0.87[CHB][hapmap];0.88[JPT][hapmap]
rs4655622	0.83[CHB][hapmap];0.88[JPT][hapmap]
rs4655624	0.82[CHB][hapmap];0.88[JPT][hapmap]
rs4655625	0.82[CHB][hapmap];0.87[JPT][hapmap]
rs4655626	0.81[CEU][hapmap];0.82[CHB][hapmap];0.87[JPT][hapmap]
rs4655629	0.81[AMR][1000 genomes]
rs4655637	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4655641	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4655644	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4655645	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4655649	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6680364	0.98[ASN][1000 genomes]
rs6696812	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs67687377	0.83[AMR][1000 genomes]
rs7546825	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9787184	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869413	chr1:67082512-67414286	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67090400-67155000	Weak transcription	Fetal Heart	heart
2	chr1:67091200-67128000	Weak transcription	NH-A	brain
3	chr1:67100000-67144400	Weak transcription	Left Ventricle	heart
4	chr1:67102800-67120200	Weak transcription	Brain Germinal Matrix	brain
5	chr1:67106200-67143000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:67108000-67136200	Weak transcription	Fetal Brain Female	brain
7	chr1:67109200-67120200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:67109200-67141800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr1:67109600-67134200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:67109600-67155000	Weak transcription	Brain Anterior Caudate	brain
11	chr1:67110200-67118800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:67110800-67134400	Weak transcription	Brain Substantia Nigra	brain
13	chr1:67111000-67120400	Weak transcription	Brain Angular Gyrus	brain
14	chr1:67111000-67135200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr1:67111400-67154800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:67114200-67134200	Weak transcription	Brain Hippocampus Middle	brain
17	chr1:67114200-67142000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:67114200-67156400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr1:67114600-67142200	Weak transcription	NHLF	lung
20	chr1:67115400-67121000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr1:67118000-67118800	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr1:67118200-67118800	Enhancers	H9 Cell Line	embryonic stem cell
23	chr1:67118200-67118800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr1:67118200-67118800	ZNF genes & repeats	Aorta	Aorta
25	chr1:67118200-67120600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:67118400-67118800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:67118600-67119000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr1:67118600-67120400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:67118600-67123200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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