Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:180706765..180709075-chr1:180712214..180714372,2	K562	blood:
2	chr1:180685018..180687558-chr1:180706171..180708091,2	K562	blood:
3	chr1:180704432..180707887-chr1:180709053..180714236,4	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10914089	1.00[EUR][1000 genomes]
rs10914106	1.00[MEX][hapmap]
rs10914110	1.00[EUR][1000 genomes]
rs11487432	0.95[YRI][hapmap];0.89[AFR][1000 genomes]
rs12064145	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12079057	1.00[ASW][hapmap];0.97[LWK][hapmap];0.89[MKK][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes]
rs12080368	1.00[EUR][1000 genomes]
rs12084966	0.89[AFR][1000 genomes]
rs12088166	1.00[EUR][1000 genomes]
rs12094045	1.00[EUR][1000 genomes]
rs13375018	1.00[EUR][1000 genomes]
rs58972035	1.00[EUR][1000 genomes]
rs60694734	1.00[EUR][1000 genomes]
rs6659019	0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6662788	1.00[EUR][1000 genomes]
rs6671675	0.95[YRI][hapmap];0.91[AFR][1000 genomes]
rs73034866	1.00[EUR][1000 genomes]
rs73036531	1.00[EUR][1000 genomes]
rs73036535	1.00[EUR][1000 genomes]
rs73036573	1.00[EUR][1000 genomes]
rs73040986	1.00[EUR][1000 genomes]
rs73047646	1.00[EUR][1000 genomes]
rs73047664	1.00[EUR][1000 genomes]
rs73047764	1.00[EUR][1000 genomes]
rs73047767	1.00[EUR][1000 genomes]
rs73052327	1.00[EUR][1000 genomes]
rs7355147	1.00[EUR][1000 genomes]
rs7512811	1.00[EUR][1000 genomes]
rs7524525	1.00[EUR][1000 genomes]
rs7550861	1.00[EUR][1000 genomes]
rs7556184	0.93[ASW][hapmap]

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	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180704000-180708800	Weak transcription	Left Ventricle	heart
2	chr1:180704200-180710000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:180704200-180711800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr1:180704200-180713200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:180704400-180709400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr1:180704400-180712600	Weak transcription	K562	blood
7	chr1:180706000-180706800	ZNF genes & repeats	Primary T cells from cord blood	blood
8	chr1:180706400-180709600	Weak transcription	Primary B cells from cord blood	blood
9	chr1:180706400-180709600	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr1:180706400-180709600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr1:180706400-180709800	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr1:180706400-180711000	Weak transcription	Primary T cells fromperipheralblood	blood

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