Variant report

Variant	rs1491924
Chromosome Location	chr12:40587930-40587931
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10506148	0.85[CHB][hapmap];0.80[ASN][1000 genomes]
rs10784340	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs10877955	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs10877971	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs10878123	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10878208	0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs11174831	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs11174928	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap]
rs11175102	1.00[CEU][hapmap]
rs11175103	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap]
rs11175256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11175260	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11175332	0.86[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs11175371	0.86[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.89[ASN][1000 genomes]
rs11175401	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11175405	0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs11175422	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11175458	0.93[ASN][1000 genomes]
rs11175540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11175558	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs11564115	1.00[JPT][hapmap]
rs12372213	1.00[CEU][hapmap]
rs12581285	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12581617	0.81[ASN][1000 genomes]
rs1388593	0.87[ASN][1000 genomes]
rs1388596	0.80[CHB][hapmap];0.84[JPT][hapmap]
rs1472117	1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs1491922	0.86[ASN][1000 genomes]
rs1491923	0.86[ASN][1000 genomes]
rs1491925	0.84[ASN][1000 genomes]
rs1491939	0.84[JPT][hapmap]
rs1491942	0.95[JPT][hapmap]
rs17442157	1.00[CEU][hapmap]
rs17443199	0.85[CHB][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs17458613	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17461429	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17518546	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1817817	0.82[ASN][1000 genomes]
rs1907630	0.87[ASN][1000 genomes]
rs1907631	0.87[ASN][1000 genomes]
rs1907634	0.82[ASN][1000 genomes]
rs2046931	0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs2131088	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2172240	0.87[ASN][1000 genomes]
rs2172241	0.87[ASN][1000 genomes]
rs2201144	1.00[ASW][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2638244	0.85[CHD][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs2638247	0.84[ASN][1000 genomes]
rs2638250	0.88[ASN][1000 genomes]
rs2638268	0.90[JPT][hapmap]
rs2638270	0.86[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs2638271	0.85[CHD][hapmap];0.90[JPT][hapmap]
rs2708426	0.87[ASN][1000 genomes]
rs2708436	0.83[ASN][1000 genomes]
rs2708437	1.00[ASW][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs2708438	1.00[ASW][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs2708441	0.82[ASN][1000 genomes]
rs2708465	0.82[ASN][1000 genomes]
rs2708478	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2723260	0.87[ASN][1000 genomes]
rs2723269	1.00[JPT][hapmap]
rs28365179	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.90[EUR][1000 genomes]
rs28365683	1.00[CEU][hapmap]
rs72644819	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7310104	0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs949640	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv558596	chr12:40413698-40591117	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1045516	chr12:40543200-40589557	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
3	nsv1044685	chr12:40574460-40771612	Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40586000-40591000	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr12:40586200-40591600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr12:40586800-40588800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:40587000-40588000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:40587000-40588200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:40587200-40588000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr12:40587200-40588200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:40587200-40588200	Enhancers	Primary B cells from cord blood	blood
9	chr12:40587200-40589400	Weak transcription	HUVEC	blood vessel
10	chr12:40587200-40590400	Enhancers	Primary B cells from peripheral blood	blood
11	chr12:40587400-40588000	Enhancers	GM12878-XiMat	blood
12	chr12:40587600-40588000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr12:40587600-40588200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:40587600-40588200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:40587800-40588000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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