Variant report

Variant	rs13239447
Chromosome Location	chr7:116642487-116642488
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:116637852..116640358-chr7:116641000..116643196,2	MCF-7	breast:
2	chr7:116591145..116594307-chr7:116639573..116642649,3	K562	blood:
3	chr7:116640801..116642552-chr7:116652189..116653977,2	K562	blood:
4	7:115861595-115870968..7:116641011-116646266	GM12878	blood:
5	7:116641011-116646266..7:116754962-116765597	GM12878	blood:
6	7:115847372-115857098..7:116641011-116646266	GM12878	blood:

Variant related genes	Relation type
ENSG00000214188	Chromatin interaction
ENSG00000004866	Chromatin interaction
ENSG00000135269	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11764134	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11765198	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs11773591	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12706124	0.87[EUR][1000 genomes]
rs12706125	0.86[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12706126	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12706127	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12706134	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]
rs12706135	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12706136	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12706137	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[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];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12706139	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12706140	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12706141	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12706143	1.00[CHB][hapmap]
rs12706144	1.00[CHB][hapmap]
rs13222576	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs13222912	0.84[ASN][1000 genomes]
rs13224314	1.00[CHB][hapmap]
rs13235739	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13243111	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13308921	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs2188693	1.00[CHB][hapmap]
rs34042687	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3808218	1.00[CHB][hapmap]
rs3808222	1.00[CHB][hapmap]
rs66758829	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71544773	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][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	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
2	nsv527321	chr7:116635048-116660803	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116613600-116647000	Weak transcription	Right Atrium	heart
2	chr7:116627800-116648200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:116627800-116648800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:116632600-116649000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:116635600-116654800	Weak transcription	Psoas Muscle	Psoas
6	chr7:116635800-116660200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:116638600-116644000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:116638600-116647400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:116639200-116647200	Weak transcription	Right Ventricle	heart
10	chr7:116639400-116644800	Weak transcription	NH-A	brain
11	chr7:116639600-116644800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:116639600-116647000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr7:116639600-116647600	Weak transcription	Colon Smooth Muscle	Colon
14	chr7:116639800-116644600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr7:116639800-116660000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:116640800-116643600	Weak transcription	Pancreas	Pancrea
17	chr7:116641400-116646200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr7:116641800-116643800	Weak transcription	Fetal Heart	heart

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