Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr2:177677191-177677509	T-47D	breast:	n/a	n/a
2	GATA3	chr2:177677167-177677518	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:177581802..177583651-chr2:177676753..177679006,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000223777	TF binding region

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10181816	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10184702	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10197209	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12469347	1.00[CHB][hapmap]
rs12693105	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs1437725	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1513886	1.00[CHB][hapmap];0.82[JPT][hapmap];0.95[ASN][1000 genomes]
rs1533303	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1534472	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1545138	1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[ASN][1000 genomes]
rs16864475	1.00[ASN][1000 genomes]
rs16864479	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4021386	1.00[ASN][1000 genomes]
rs4893917	1.00[CHB][hapmap];0.82[JPT][hapmap];0.95[ASN][1000 genomes]
rs55681572	0.86[ASN][1000 genomes]
rs56234839	0.83[ASN][1000 genomes]
rs6740977	0.95[ASN][1000 genomes]
rs72936904	0.91[ASN][1000 genomes]
rs7588841	1.00[CHB][hapmap]
rs7601162	0.95[ASN][1000 genomes]
rs840698	1.00[CHB][hapmap]
rs840699	1.00[CHB][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	nsv527737	chr2:177538266-177692572	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv583686	chr2:177538266-177692572	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1006500	chr2:177548521-177707097	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10497573	VIM	trans	lymphoblastoid	seeQTL

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:177676400-177677800	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr2:177676400-177679000	Enhancers	Brain Germinal Matrix	brain
3	chr2:177676600-177678200	Enhancers	Fetal Brain Male	brain
4	chr2:177676600-177678800	Enhancers	Fetal Brain Female	brain
5	chr2:177676800-177678600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:177676800-177679600	Enhancers	Fetal Lung	lung
7	chr2:177677000-177677600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr2:177677000-177677800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:177677000-177679000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr2:177677200-177677400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr2:177677200-177677400	Enhancers	H9 Cell Line	embryonic stem cell
12	chr2:177677200-177677400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:177677200-177677400	Enhancers	Brain Anterior Caudate	brain
14	chr2:177677200-177677600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr2:177677200-177678200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:177677200-177678200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr2:177677200-177679200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr2:177677200-177679600	Enhancers	Ovary	ovary

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