Variant report

Variant	rs4713925
Chromosome Location	chr6:11798414-11798415
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:11796589..11798464-chr6:12010178..12011844,2	K562	blood:
2	chr6:11797447..11799513-chr6:11829313..11831704,2	K562	blood:
3	chr6:11797447..11800055-chr6:11830156..11831704,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10947567	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11752110	0.88[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2142896	0.93[ASN][1000 genomes]
rs4711430	0.95[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs4711431	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4711432	0.96[CEU][hapmap];0.81[TSI][hapmap]
rs4713922	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.98[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4713926	0.89[ASW][hapmap];0.92[CEU][hapmap];0.93[GIH][hapmap];0.83[LWK][hapmap];0.81[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4713927	0.96[CEU][hapmap];0.81[TSI][hapmap]
rs9296163	0.91[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs9462130	0.96[CEU][hapmap];0.81[TSI][hapmap]

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	esv2758036	chr6:11679753-11822351	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2759407	chr6:11679753-11822351	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4713925	RNF182	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11791800-11803400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:11792000-11804800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:11793400-11799000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr6:11793400-11803400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr6:11793400-11804800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr6:11793600-11803400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr6:11793600-11804800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr6:11794400-11799000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr6:11794800-11802600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr6:11795400-11798600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:11795600-11802200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr6:11795800-11799000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr6:11796000-11798600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:11796400-11802600	Weak transcription	Hela-S3	cervix
15	chr6:11796400-11810400	Weak transcription	Placenta	Placenta
16	chr6:11796600-11804400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:11797800-11798600	Enhancers	Fetal Stomach	stomach
18	chr6:11797800-11799400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:11798200-11799000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:11798400-11798800	Enhancers	HMEC	breast
21	chr6:11798400-11799000	Enhancers	NHDF-Ad	bronchial
22	chr6:11798400-11799200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr6:11798400-11799200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr6:11798400-11799400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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