Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:180701670..180704293-chr1:180704496..180706159,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10914089	1.00[EUR][1000 genomes]
rs10914110	1.00[EUR][1000 genomes]
rs11487432	1.00[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[YRI][hapmap];0.87[AFR][1000 genomes]
rs12080368	1.00[EUR][1000 genomes]
rs12084966	0.89[AFR][1000 genomes]
rs12087860	0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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]
rs6662788	1.00[EUR][1000 genomes]
rs6671675	1.00[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]

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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180698000-180704200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:180698800-180703200	Weak transcription	Psoas Muscle	Psoas
3	chr1:180700400-180702600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:180700800-180702800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:180701000-180706200	Weak transcription	Pancreas	Pancrea
6	chr1:180701400-180706400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
7	chr1:180701600-180702400	Enhancers	Right Ventricle	heart
8	chr1:180701600-180704400	ZNF genes & repeats	K562	blood
9	chr1:180701800-180702000	ZNF genes & repeats	Primary T cells from cord blood	blood
10	chr1:180701800-180702200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
11	chr1:180701800-180702400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:180701800-180702400	ZNF genes & repeats	Fetal Intestine Small	intestine
13	chr1:180701800-180702400	Genic enhancers	Left Ventricle	heart
14	chr1:180701800-180702800	ZNF genes & repeats	Brain Germinal Matrix	brain
15	chr1:180701800-180703000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:180701800-180704400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--

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