Variant report

Variant	rs4836346
Chromosome Location	chr5:127271404-127271405
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:127267836..127272333-chr5:127416528..127421531,14	MCF-7	breast:
2	chr5:127267226..127272789-chr5:127416073..127421756,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000064651	Chromatin interaction
ENSG00000245937	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10050374	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10057561	0.95[EUR][1000 genomes]
rs10064559	0.84[EUR][1000 genomes]
rs10068883	0.84[EUR][1000 genomes]
rs10213776	0.81[EUR][1000 genomes]
rs10900794	0.90[EUR][1000 genomes]
rs11738398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11741283	0.89[EUR][1000 genomes]
rs12517005	0.90[EUR][1000 genomes]
rs13160751	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2011576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2409037	0.90[EUR][1000 genomes]
rs4836344	0.92[EUR][1000 genomes]
rs4836348	0.98[EUR][1000 genomes]
rs55896045	0.89[EUR][1000 genomes]
rs6595796	0.81[EUR][1000 genomes]
rs6871743	0.92[EUR][1000 genomes]
rs6877403	0.90[EUR][1000 genomes]
rs6889756	0.95[EUR][1000 genomes]
rs6898956	0.85[EUR][1000 genomes]
rs758181	0.91[EUR][1000 genomes]
rs7706518	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7717741	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7726011	0.81[EUR][1000 genomes]
rs9327463	0.81[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	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127262800-127272000	Weak transcription	Small Intestine	intestine
2	chr5:127266600-127277000	Weak transcription	Aorta	Aorta
3	chr5:127267400-127292200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:127269600-127271600	Enhancers	HepG2	liver
5	chr5:127269800-127271600	Enhancers	Hela-S3	cervix
6	chr5:127269800-127292400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:127270000-127271600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
8	chr5:127270200-127272600	Enhancers	NHEK	skin
9	chr5:127270400-127271600	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr5:127270400-127272600	Enhancers	Stomach Mucosa	stomach
11	chr5:127270600-127271600	Enhancers	Fetal Intestine Small	intestine
12	chr5:127270600-127271600	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr5:127270800-127272400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:127270800-127273400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr5:127271200-127271600	Enhancers	Pancreas	Pancrea
16	chr5:127271200-127272400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr5:127271200-127274400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:127271200-127276800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr5:127271200-127294800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:127271400-127271600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
21	chr5:127271400-127273000	Enhancers	A549	lung
22	chr5:127271400-127276600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:127271400-127276800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:127271400-127277000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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