Variant report

Variant	rs6721614
Chromosome Location	chr2:125424553-125424554
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10165603	0.85[CEU][hapmap]
rs10184472	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10194805	0.82[CEU][hapmap]
rs10195187	0.81[CEU][hapmap]
rs10195554	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10196022	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs10202655	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs10202736	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap]
rs10206545	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10207721	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11123053	0.82[CEU][hapmap]
rs11123056	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs11674701	0.83[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.92[MEX][hapmap];0.98[TSI][hapmap]
rs11675141	0.85[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs11676952	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs11686268	1.00[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap]
rs12466900	0.89[GIH][hapmap]
rs12470814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12473998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12990799	0.81[GIH][hapmap]
rs12995183	0.88[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs13003103	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13008822	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13011609	0.90[ASN][1000 genomes]
rs1394141	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs1394142	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs1394143	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs1394146	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs1454133	0.85[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap]
rs1504015	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1504023	0.88[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1587788	0.83[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1587789	0.92[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.90[ASN][1000 genomes]
rs1604806	0.89[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs1902004	0.85[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap]
rs1910528	0.82[CEU][hapmap]
rs2047874	0.82[CEU][hapmap];0.91[GIH][hapmap]
rs2219107	0.84[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4848249	0.89[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap]
rs4848250	0.85[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap]
rs4848251	0.92[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs4848252	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs4848257	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4848947	0.81[CEU][hapmap];0.93[CHB][hapmap];0.95[JPT][hapmap]
rs4848949	0.90[ASN][1000 genomes]
rs4848950	0.92[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap]
rs4848953	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs4848956	0.93[CHB][hapmap];0.94[JPT][hapmap]
rs4848957	0.89[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs4848959	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4848960	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6541962	0.82[CEU][hapmap]
rs6541966	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.92[MEX][hapmap];0.98[TSI][hapmap]
rs6707181	0.84[CEU][hapmap];0.93[CHB][hapmap];0.95[JPT][hapmap]
rs6707400	0.81[CEU][hapmap];0.93[CHB][hapmap];0.95[JPT][hapmap]
rs6707412	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6712020	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6720324	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6727845	0.92[CHB][hapmap];0.94[JPT][hapmap]
rs6739364	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6743015	0.90[ASN][1000 genomes]
rs6745271	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6750530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6751507	0.85[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs6754751	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs727179	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs727180	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7558706	0.82[CEU][hapmap]
rs7560341	0.96[CEU][hapmap];0.86[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7564755	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7584599	0.82[CEU][hapmap]
rs7586683	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs7599608	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs7599787	0.85[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs7605511	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs924802	0.96[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs924803	0.89[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs936028	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]
rs936029	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]
rs963189	0.89[CEU][hapmap];0.93[CHB][hapmap];0.95[JPT][hapmap]
rs963190	0.89[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap]
rs9646915	0.96[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9646916	0.96[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]

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	nsv834359	chr2:125367872-125536022	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
2	nsv428727	chr2:125372897-125512949	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:125421600-125425600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr2:125424400-125424600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr2:125424400-125424800	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr2:125424400-125425000	Enhancers	H9 Cell Line	embryonic stem cell
5	chr2:125424400-125425000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:125424400-125425400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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