Variant report

Variant	rs9462130
Chromosome Location	chr6:11802647-11802648
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11752110	0.84[CEU][hapmap]
rs11754656	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4711431	0.82[CEU][hapmap]
rs4711432	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4713922	0.96[CEU][hapmap]
rs4713925	0.96[CEU][hapmap];0.81[TSI][hapmap]
rs4713926	0.88[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap];0.81[TSI][hapmap];0.93[ASN][1000 genomes]
rs4713927	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7762390	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[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	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

No data

Chromatin state (count:18 , 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	chr6:11793400-11803400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr6:11793400-11804800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr6:11793600-11803400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr6:11793600-11804800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr6:11796400-11810400	Weak transcription	Placenta	Placenta
8	chr6:11796600-11804400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:11798800-11803600	Weak transcription	HMEC	breast
10	chr6:11799000-11804000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:11799000-11805000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:11799200-11804400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr6:11799200-11809800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:11802200-11806400	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr6:11802400-11804800	Weak transcription	HSMMtube	muscle
16	chr6:11802600-11802800	Enhancers	Hela-S3	cervix
17	chr6:11802600-11803600	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr6:11802600-11806400	Enhancers	Fetal Intestine Small	intestine

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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