Variant report

Variant	rs1361518
Chromosome Location	chr6:70623011-70623012
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:70589300..70592044-chr6:70621641..70624143,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs12110870	0.96[ASN][1000 genomes]
rs1417577	0.80[ASW][hapmap]
rs17689448	0.80[ASW][hapmap]
rs1934904	0.90[CHB][hapmap];0.90[CHD][hapmap];0.84[JPT][hapmap];0.89[ASN][1000 genomes]
rs2273426	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs2345744	0.88[ASN][1000 genomes]
rs3793031	0.97[ASN][1000 genomes]
rs3793032	0.95[CHB][hapmap];0.92[JPT][hapmap];0.97[ASN][1000 genomes]
rs3793033	0.95[CHB][hapmap];0.92[JPT][hapmap];0.97[ASN][1000 genomes]
rs3793035	0.95[CHB][hapmap];0.92[CHD][hapmap];0.92[JPT][hapmap];0.96[ASN][1000 genomes]
rs3805959	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap];0.94[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3805963	0.95[CHB][hapmap];0.91[JPT][hapmap];0.98[ASN][1000 genomes]
rs3805965	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3805967	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];0.92[JPT][hapmap];0.86[MEX][hapmap];0.94[TSI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3805978	0.90[CHB][hapmap];0.84[JPT][hapmap];0.89[ASN][1000 genomes]
rs4036075	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.83[GIH][hapmap];0.92[JPT][hapmap];0.86[MEX][hapmap];0.94[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56293172	0.97[ASN][1000 genomes]
rs58134065	0.96[ASN][1000 genomes]
rs59501442	0.97[ASN][1000 genomes]
rs59599861	0.97[ASN][1000 genomes]
rs6455351	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6455352	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6455353	0.88[ASN][1000 genomes]
rs6899719	0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6903421	0.95[CHB][hapmap];0.92[CHD][hapmap];0.92[JPT][hapmap];0.97[ASN][1000 genomes]
rs6910162	0.88[ASN][1000 genomes]
rs6912321	0.89[ASN][1000 genomes]
rs6935585	0.90[CHB][hapmap];0.88[ASN][1000 genomes]
rs6938495	1.00[CEU][hapmap];0.90[CHB][hapmap];0.92[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73480070	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73484256	0.86[ASN][1000 genomes]
rs7742627	0.95[CHB][hapmap];0.94[CHD][hapmap];0.92[JPT][hapmap];0.97[ASN][1000 genomes]
rs7751448	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7756062	0.90[CHB][hapmap];0.92[CHD][hapmap];0.88[ASN][1000 genomes]
rs9294855	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9346367	0.85[CHB][hapmap];0.80[CHD][hapmap];0.84[JPT][hapmap]
rs9351779	0.80[JPT][hapmap]
rs9354904	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs9360410	1.00[CHB][hapmap];0.92[JPT][hapmap];0.98[ASN][1000 genomes]
rs9446168	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9446171	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.94[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9446172	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs9454909	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9454912	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.96[MKK][hapmap];0.94[TSI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9454919	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9454930	0.90[CHB][hapmap];0.84[JPT][hapmap];0.94[ASN][1000 genomes]
rs9454932	0.89[ASN][1000 genomes]
rs9454935	0.90[CHB][hapmap];0.92[CHD][hapmap];0.86[ASN][1000 genomes]
rs9454937	0.90[CHB][hapmap];0.87[ASN][1000 genomes]
rs9454944	0.85[CHB][hapmap];0.82[CHD][hapmap];0.84[JPT][hapmap]
rs978290	0.80[CHB][hapmap];0.84[JPT][hapmap]

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	nsv886140	chr6:70354682-70728202	Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv886141	chr6:70590638-70694162	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1026151	chr6:70621616-70946967	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:70605600-70627800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:70618000-70623200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:70618000-70623400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:70618000-70624000	Weak transcription	HSMM	muscle
5	chr6:70618000-70625000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:70618200-70623600	Weak transcription	HSMMtube	muscle
7	chr6:70622400-70624200	Enhancers	Primary B cells from peripheral blood	blood
8	chr6:70622600-70630000	Weak transcription	GM12878-XiMat	blood
9	chr6:70622800-70623200	Weak transcription	Primary B cells from cord blood	blood
10	chr6:70623000-70623800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr6:70623000-70623800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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