Variant report

Variant	rs1403294
Chromosome Location	chr8:104345778-104345779
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:104337893..104340486-chr8:104343758..104345894,2	MCF-7	breast:
2	chr8:104345079..104346663-chr8:104348274..104351227,2	MCF-7	breast:
3	chr8:104310858..104312601-chr8:104344090..104346508,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000247081	Chromatin interaction
ENSG00000164930	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs2272101	0.81[JPT][hapmap]
rs3736052	0.81[JPT][hapmap]
rs6995597	0.81[JPT][hapmap]
rs6997144	0.81[JPT][hapmap]
rs7813603	0.81[JPT][hapmap]
rs7814419	0.81[JPT][hapmap]
rs827528	0.91[CEU][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs827537	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs827546	0.91[CEU][hapmap];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv1023181	chr8:104298542-104366365	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1020476	chr8:104312212-104924482	Genic enhancers Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv539704	chr8:104312212-104924482	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
8	nsv1016395	chr8:104327541-104473005	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1403294	FZD6	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104312000-104348400	Weak transcription	Thymus	Thymus
2	chr8:104312000-104350200	Weak transcription	Esophagus	oesophagus
3	chr8:104312400-104350000	Weak transcription	Lung	lung
4	chr8:104312600-104350000	Weak transcription	Colon Smooth Muscle	Colon
5	chr8:104317400-104354000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:104317600-104345800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr8:104319400-104347200	Weak transcription	Hela-S3	cervix
8	chr8:104321400-104358800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr8:104321600-104350200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:104322800-104350200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:104324800-104348200	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr8:104328200-104355800	Weak transcription	Gastric	stomach
13	chr8:104328200-104361200	Weak transcription	Pancreas	Pancrea
14	chr8:104330400-104350200	Weak transcription	Psoas Muscle	Psoas
15	chr8:104331800-104347200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr8:104331800-104352000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr8:104332000-104348200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:104334200-104347000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr8:104334200-104348800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr8:104335800-104347800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr8:104336600-104348400	Weak transcription	GM12878-XiMat	blood
22	chr8:104337600-104348600	Weak transcription	HSMMtube	muscle
23	chr8:104337800-104350200	Weak transcription	Brain Angular Gyrus	brain
24	chr8:104337800-104351800	Weak transcription	Aorta	Aorta
25	chr8:104338000-104350000	Weak transcription	Brain Anterior Caudate	brain
26	chr8:104338200-104348400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr8:104338600-104348000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr8:104340200-104346000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:104340200-104347200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:104340600-104348400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr8:104340600-104349000	Weak transcription	Fetal Kidney	kidney
32	chr8:104340800-104346200	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr8:104340800-104350000	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr8:104341800-104346000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr8:104341800-104346600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:104342000-104345800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr8:104342000-104346200	Strong transcription	HMEC	breast
38	chr8:104342400-104345800	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr8:104342400-104349200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr8:104342400-104357600	Weak transcription	Placenta	Placenta
41	chr8:104342400-104360000	Weak transcription	Duodenum Mucosa	Duodenum
42	chr8:104342600-104352000	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr8:104343000-104345800	Weak transcription	HSMM	muscle
44	chr8:104343000-104347200	Weak transcription	Dnd41	blood
45	chr8:104343000-104350000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr8:104343000-104350000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr8:104343000-104350000	Weak transcription	NHLF	lung
48	chr8:104343200-104348000	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr8:104343200-104349000	Weak transcription	NHDF-Ad	bronchial
50	chr8:104343200-104355800	Weak transcription	HUVEC	blood vessel

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