Variant report

Variant	rs12678419
Chromosome Location	chr8:104257497-104257498
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:104256440..104259303-chr8:104260391..104263369,2	MCF-7	breast:
2	chr8:104246048..104249012-chr8:104256522..104258366,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C8orf56-1	chr8:104257029-104257791	NONHSAT128169

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10103573	0.82[ASN][1000 genomes]
rs10955313	0.82[ASN][1000 genomes]
rs2201369	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2201370	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs34111666	0.82[ASN][1000 genomes]
rs3736045	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs57766637	0.91[ASN][1000 genomes]
rs60751214	0.91[ASN][1000 genomes]
rs62525471	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6985929	0.94[ASN][1000 genomes]
rs7002454	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7005789	0.94[ASN][1000 genomes]
rs73283939	0.94[ASN][1000 genomes]
rs73283943	0.94[ASN][1000 genomes]
rs73283949	0.91[ASN][1000 genomes]
rs7817074	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.94[ASN][1000 genomes]
rs7818987	0.94[ASN][1000 genomes]
rs7822939	0.94[ASN][1000 genomes]
rs7835655	0.94[ASN][1000 genomes]
rs7844873	0.82[ASN][1000 genomes]
rs996200	0.83[ASN][1000 genomes]

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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12678419	DCAF13	cis	cerebellum	SCAN
rs12678419	FZD6	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104244000-104268400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:104248400-104259800	Weak transcription	NHLF	lung
3	chr8:104251800-104260000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:104252000-104261000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:104252200-104260800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:104252200-104279000	Weak transcription	Aorta	Aorta
7	chr8:104255200-104258200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr8:104255400-104261000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:104255800-104260000	Weak transcription	Spleen	Spleen
10	chr8:104256200-104258400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:104256200-104268600	Weak transcription	Left Ventricle	heart
12	chr8:104256600-104257800	Enhancers	NH-A	brain
13	chr8:104256600-104266600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr8:104256800-104257800	Enhancers	HSMM	muscle
15	chr8:104256800-104259000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:104257000-104258200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:104257000-104263400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:104257200-104257800	Enhancers	HepG2	liver
19	chr8:104257400-104257800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr8:104257400-104257800	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr8:104257400-104258000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:104257400-104258400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr8:104257400-104258800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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