Variant report

Variant	rs2218943
Chromosome Location	chr12:45018995-45018996
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10748401	1.00[CEU][hapmap];0.81[JPT][hapmap];0.87[MEX][hapmap];0.83[MKK][hapmap];0.94[TSI][hapmap]
rs10785518	0.82[AFR][1000 genomes]
rs10785520	1.00[CEU][hapmap];0.80[CHD][hapmap];0.87[MEX][hapmap];0.94[TSI][hapmap]
rs10785526	1.00[CEU][hapmap]
rs10785527	1.00[CEU][hapmap];0.81[JPT][hapmap];0.87[MEX][hapmap];0.83[MKK][hapmap];0.94[TSI][hapmap]
rs10880668	1.00[CEU][hapmap];0.83[MEX][hapmap];0.94[TSI][hapmap]
rs10880672	1.00[CEU][hapmap];0.83[MEX][hapmap];0.94[TSI][hapmap]
rs11182562	0.91[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs12302273	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12314678	0.86[ASN][1000 genomes]
rs12829763	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1450540	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs1470803	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]
rs17094865	0.86[ASN][1000 genomes]
rs17094882	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1966856	0.90[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs2060839	0.86[ASN][1000 genomes]
rs2060841	0.84[ASN][1000 genomes]
rs2060842	0.86[ASN][1000 genomes]
rs2060898	0.88[CEU][hapmap]
rs2060899	0.88[CEU][hapmap];0.81[CHB][hapmap];0.84[CHD][hapmap];0.87[ASN][1000 genomes]
rs2084614	1.00[CEU][hapmap];0.86[CHB][hapmap]
rs2408047	0.88[ASW][hapmap];0.91[CEU][hapmap];0.90[CHB][hapmap];0.93[CHD][hapmap];0.92[MEX][hapmap];0.97[TSI][hapmap]
rs4641544	0.85[ASN][1000 genomes]
rs4768067	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768562	0.84[CHD][hapmap];0.84[ASN][1000 genomes]
rs586188	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs590905	1.00[CEU][hapmap];0.84[CHB][hapmap]
rs617006	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap]
rs625691	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs632893	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs633526	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs641782	0.88[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];0.83[GIH][hapmap];0.86[JPT][hapmap];0.92[MEX][hapmap];0.83[MKK][hapmap];0.97[TSI][hapmap];0.80[YRI][hapmap]
rs655191	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6582508	0.86[ASN][1000 genomes]
rs6582509	0.84[CHD][hapmap];0.86[ASN][1000 genomes]
rs6582515	1.00[CEU][hapmap]
rs683285	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs686110	0.88[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.84[MKK][hapmap];0.97[TSI][hapmap]
rs7299592	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7304431	0.94[ASW][hapmap];0.88[CEU][hapmap];0.84[CHD][hapmap];0.81[GIH][hapmap];0.87[LWK][hapmap];0.86[MKK][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs765770	0.91[YRI][hapmap];0.89[AFR][1000 genomes]
rs838975	0.80[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	nsv430506	chr12:45003342-45072343	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44998200-45024400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:45004800-45020800	Weak transcription	Fetal Brain Female	brain
3	chr12:45004800-45034800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr12:45004800-45043200	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr12:45005000-45023200	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr12:45005000-45031200	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr12:45005000-45044200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr12:45013400-45019000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:45013800-45020200	Weak transcription	Fetal Brain Male	brain
10	chr12:45015000-45048400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:45017000-45020000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:45018200-45019400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr12:45018200-45019600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr12:45018200-45021800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:45018400-45019200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr12:45018400-45019400	Enhancers	HUES6 Cell Line	embryonic stem cell

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