Variant report

Variant	rs11781628
Chromosome Location	chr8:104249638-104249639
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:104240667..104244183-chr8:104247886..104250824,3	MCF-7	breast:
2	chr8:104240144..104242443-chr8:104249036..104251260,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253851	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10089343	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs10094939	1.00[CHB][hapmap]
rs10097121	1.00[CHB][hapmap]
rs10102413	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs10112450	1.00[CHB][hapmap]
rs1032471	0.89[ASW][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];0.97[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes]
rs1061196	1.00[CHB][hapmap]
rs11785583	0.82[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap]
rs13263611	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs13282967	1.00[CHB][hapmap]
rs17205821	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs17228538	1.00[CHB][hapmap]
rs17802416	1.00[CHB][hapmap]
rs17804088	1.00[CHB][hapmap]
rs17804149	1.00[CHB][hapmap]
rs2948449	1.00[CHB][hapmap]
rs3104026	1.00[CHB][hapmap]
rs6989714	1.00[CHB][hapmap]
rs6990501	1.00[CHB][hapmap]
rs7839421	1.00[CHB][hapmap]
rs7845210	1.00[CHB][hapmap]
rs827528	1.00[CHB][hapmap]
rs827537	1.00[CHB][hapmap]
rs827546	1.00[CHB][hapmap]
rs951826	1.00[CHB][hapmap]
rs973242	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831413	chr8:104085141-104269789	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	esv1848810	chr8:104128496-104369288	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	esv1844303	chr8:104128696-104369090	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv1015965	chr8:104192086-104361108	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv1017326	chr8:104236193-104313235	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11781628	FZD6	cis	parietal	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104242400-104251200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:104242400-104251200	Weak transcription	HMEC	breast
3	chr8:104242800-104250200	Weak transcription	Fetal Brain Female	brain
4	chr8:104244000-104251200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:104244000-104268400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:104244200-104251400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:104244600-104257400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr8:104245600-104254800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr8:104248000-104249800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr8:104248000-104249800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:104248400-104259800	Weak transcription	NHLF	lung
12	chr8:104248600-104249800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr8:104249000-104251200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:104249200-104251000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:104249400-104251200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:104249600-104251200	Weak transcription	NHDF-Ad	bronchial
17	chr8:104249600-104251200	Weak transcription	Osteobl	bone

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