Variant report

Variant	rs12706134
Chromosome Location	chr7:116634529-116634530
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:116625923..116629048-chr7:116633177..116636894,3	K562	blood:
2	chr7:116633872..116635793-chr7:116756393..116758415,2	K562	blood:
3	chr7:116593412..116595040-chr7:116633936..116636108,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214188	Chromatin interaction
ENSG00000004866	Chromatin interaction
ENSG00000227199	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11762032	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11764134	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11765198	1.00[CEU][hapmap]
rs11773591	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12706124	0.83[EUR][1000 genomes]
rs12706125	0.91[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12706126	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12706127	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12706135	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706136	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12706137	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706138	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12706139	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12706140	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12706141	0.84[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.93[MKK][hapmap];0.86[ASN][1000 genomes]
rs12706143	1.00[CHB][hapmap]
rs12706144	1.00[CHB][hapmap]
rs13222576	0.84[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.93[MKK][hapmap];0.89[ASN][1000 genomes]
rs13222912	0.86[ASN][1000 genomes]
rs13224314	1.00[CHB][hapmap]
rs13235739	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13239447	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13243111	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13308921	0.84[CEU][hapmap];1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs2188693	1.00[CHB][hapmap]
rs34042687	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808218	1.00[CHB][hapmap]
rs3808222	1.00[CHB][hapmap];1.00[LWK][hapmap]
rs66758829	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71544773	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831107	chr7:116414734-116649466	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers 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 miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12706134	CFTR	cis	parietal	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116597000-116641600	Weak transcription	Ovary	ovary
2	chr7:116610600-116638800	Weak transcription	Hela-S3	cervix
3	chr7:116613600-116635600	Weak transcription	Pancreas	Pancrea
4	chr7:116613600-116647000	Weak transcription	Right Atrium	heart
5	chr7:116623800-116635000	Weak transcription	Left Ventricle	heart
6	chr7:116627400-116635000	Weak transcription	Fetal Heart	heart
7	chr7:116627600-116639000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:116627800-116638000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:116627800-116648200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr7:116627800-116648800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:116631200-116636800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr7:116631600-116640600	Weak transcription	K562	blood
13	chr7:116632600-116635400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:116632600-116638000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:116632600-116638000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:116632600-116649000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:116632800-116635000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:116632800-116638000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:116634400-116635600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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