Variant report

Variant	rs11771917
Chromosome Location	chr7:116635705-116635706
allele	C/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: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12539753	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12669881	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12672783	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35057858	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3864652	0.95[CHB][hapmap];0.81[JPT][hapmap]
rs4236605	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55840193	0.90[ASN][1000 genomes]
rs59908721	0.83[ASN][1000 genomes]
rs7785492	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs7788320	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7800379	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[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:22 , 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	chr7:116613600-116647000	Weak transcription	Right Atrium	heart
4	chr7:116627600-116639000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:116627800-116638000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:116627800-116648200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:116627800-116648800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:116631200-116636800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr7:116631600-116640600	Weak transcription	K562	blood
10	chr7:116632600-116638000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:116632600-116638000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:116632600-116649000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:116632800-116638000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:116634800-116637000	Enhancers	Placenta Amnion	Placenta Amnion
15	chr7:116635000-116635800	Enhancers	Fetal Heart	heart
16	chr7:116635000-116635800	Enhancers	Left Ventricle	heart
17	chr7:116635000-116635800	Enhancers	Right Ventricle	heart
18	chr7:116635400-116635800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:116635600-116635800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:116635600-116635800	Enhancers	Pancreas	Pancrea
21	chr7:116635600-116639000	Weak transcription	Colon Smooth Muscle	Colon
22	chr7:116635600-116654800	Weak transcription	Psoas Muscle	Psoas

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