Variant report

Variant	rs1845430
Chromosome Location	chr8:104168865-104168866
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	chr8:104167543..104169124-chr8:104174251..104177179,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10088491	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10955310	0.91[ASN][1000 genomes]
rs12056711	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12545903	0.98[ASN][1000 genomes]
rs13259545	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.83[TSI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13264626	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13274504	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1494276	0.95[CEU][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1497449	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2249256	0.83[JPT][hapmap]
rs2256164	0.82[CHB][hapmap];0.87[JPT][hapmap];0.82[YRI][hapmap];0.81[ASN][1000 genomes]
rs2454012	0.83[YRI][hapmap]
rs2454013	0.82[CHB][hapmap];0.86[CHD][hapmap];0.87[JPT][hapmap];0.83[YRI][hapmap];0.81[ASN][1000 genomes]
rs2454014	0.82[CHB][hapmap];0.86[CHD][hapmap];0.87[JPT][hapmap];0.82[YRI][hapmap];0.81[ASN][1000 genomes]
rs2515190	0.87[CHB][hapmap];0.91[CHD][hapmap];0.90[GIH][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs2515191	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2935579	0.87[CHB][hapmap];0.91[CHD][hapmap];0.90[GIH][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs4734071	0.96[CEU][hapmap];0.87[CHB][hapmap];0.87[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4734689	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4734690	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61274078	0.99[ASN][1000 genomes]
rs7001897	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7014418	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72507596	0.99[ASN][1000 genomes]
rs72671377	0.98[ASN][1000 genomes]
rs991312	0.96[CEU][hapmap];0.87[CHB][hapmap];0.87[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1845430	FZD6	cis	parietal	SCAN
rs1845430	FZD6	cis	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104154000-104177200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:104162400-104169000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
3	chr8:104162800-104172600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr8:104164600-104169200	Enhancers	Brain Hippocampus Middle	brain
5	chr8:104165000-104176400	Weak transcription	NHDF-Ad	bronchial
6	chr8:104165000-104176600	Weak transcription	Osteobl	bone
7	chr8:104165400-104170200	Weak transcription	NHLF	lung
8	chr8:104166200-104179800	Weak transcription	Spleen	Spleen
9	chr8:104166400-104169800	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr8:104166400-104170200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:104166600-104169200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:104166600-104169200	Enhancers	Brain Anterior Caudate	brain
13	chr8:104166600-104173200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr8:104166600-104178800	Weak transcription	Fetal Brain Male	brain
15	chr8:104167600-104169000	Enhancers	Brain Substantia Nigra	brain
16	chr8:104167600-104169200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:104167600-104169200	Enhancers	Brain Cingulate Gyrus	brain
18	chr8:104167600-104169400	Enhancers	Brain Angular Gyrus	brain
19	chr8:104168200-104169400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:104168400-104169200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:104168600-104169000	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr8:104168600-104169000	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr8:104168800-104170400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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