Variant report

Variant	rs1470803
Chromosome Location	chr12:44995656-44995657
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10748401	0.88[CEU][hapmap]
rs10785513	0.83[GIH][hapmap]
rs10785520	0.88[CEU][hapmap]
rs10785526	0.90[CEU][hapmap]
rs10785527	0.88[CEU][hapmap]
rs10880668	0.88[CEU][hapmap]
rs10880672	0.88[CEU][hapmap]
rs11182552	0.86[ASN][1000 genomes]
rs11182562	0.87[ASN][1000 genomes]
rs12314678	0.99[ASN][1000 genomes]
rs1450540	0.88[CEU][hapmap];0.91[YRI][hapmap]
rs1545496	0.84[CHD][hapmap];0.86[GIH][hapmap]
rs17094865	0.99[ASN][1000 genomes]
rs17094882	0.94[ASW][hapmap];0.88[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];0.83[GIH][hapmap];1.00[LWK][hapmap];0.89[MKK][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1966856	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2060839	0.95[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs2060841	0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs2060842	0.95[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs2060895	0.89[CHD][hapmap];0.91[GIH][hapmap];0.86[ASN][1000 genomes]
rs2060896	0.91[CHD][hapmap];0.91[GIH][hapmap];0.85[ASN][1000 genomes]
rs2060897	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2060898	1.00[CEU][hapmap];0.88[CHD][hapmap];0.98[GIH][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2060899	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2084614	0.88[CEU][hapmap]
rs2218943	0.94[ASW][hapmap];0.88[CEU][hapmap];0.86[CHD][hapmap];0.81[JPT][hapmap];0.97[LWK][hapmap];0.82[MKK][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2408047	0.82[ASW][hapmap];0.83[CEU][hapmap]
rs4641544	0.97[ASN][1000 genomes]
rs4768067	0.87[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs4768562	0.95[CHB][hapmap];0.98[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs586188	0.88[CEU][hapmap]
rs590905	0.88[CEU][hapmap]
rs617006	0.88[CEU][hapmap]
rs625691	0.83[CEU][hapmap];0.91[YRI][hapmap]
rs633526	0.94[ASW][hapmap];0.88[CEU][hapmap];0.86[LWK][hapmap];0.91[YRI][hapmap]
rs641782	0.83[ASW][hapmap];0.88[CEU][hapmap]
rs6582508	0.99[ASN][1000 genomes]
rs6582509	0.95[CHB][hapmap];0.98[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs6582515	0.88[CEU][hapmap]
rs683285	0.91[CEU][hapmap];0.91[YRI][hapmap]
rs686110	0.82[ASW][hapmap];0.88[CEU][hapmap]
rs7134952	0.86[ASN][1000 genomes]
rs7304431	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs765770	0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7958608	0.86[CHD][hapmap];0.84[GIH][hapmap];0.85[ASN][1000 genomes]
rs7966743	0.81[CEU][hapmap];0.84[ASN][1000 genomes]
rs7966744	0.84[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	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv3378050	chr12:44963059-45264289	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv2762976	chr12:44969431-45000228	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44940200-44999600	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr12:44943400-44998600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr12:44966800-45000600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr12:44977400-44998800	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr12:44986600-45006600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:44986800-45015800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:44987200-44997600	Weak transcription	Fetal Brain Male	brain
8	chr12:44988800-44995800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:44990400-45004800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr12:44991600-44997800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:44992000-44999400	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr12:44992200-45006400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr12:44993000-45006800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr12:44994400-45004200	Weak transcription	Brain Germinal Matrix	brain
15	chr12:44995200-44996200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:44995600-44995800	Enhancers	Fetal Brain Female	brain

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