Variant report

Variant	rs12541098
Chromosome Location	chr8:67336382-67336383
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:67331927..67334927-chr8:67335306..67337724,3	K562	blood:
2	chr8:67333368..67336415-chr8:67339559..67342231,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000246145	Chromatin interaction
ENSG00000179041	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10088592	0.86[ASN][1000 genomes]
rs1025228	0.90[CHB][hapmap];0.90[CHD][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs1030419	0.86[ASN][1000 genomes]
rs10957372	1.00[CHB][hapmap];0.98[CHD][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs1559885	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1963852	0.86[ASN][1000 genomes]
rs2081649	0.84[ASN][1000 genomes]
rs2357895	0.86[ASN][1000 genomes]
rs2465982	0.90[CHB][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs2465984	0.90[CHB][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs2465985	0.90[CHB][hapmap];0.93[CHD][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs2555565	0.86[ASN][1000 genomes]
rs2555575	0.84[JPT][hapmap]
rs2718988	0.85[CHB][hapmap];0.93[CHD][hapmap];0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs2718990	0.95[CHB][hapmap];0.98[CHD][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs2719006	0.84[JPT][hapmap]
rs2719009	0.91[ASN][1000 genomes]
rs7002723	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7005366	0.90[ASN][1000 genomes]
rs753082	0.90[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs890515	0.84[JPT][hapmap];0.80[ASN][1000 genomes]
rs9693689	1.00[CHB][hapmap];0.93[CHD][hapmap];0.83[JPT][hapmap]
rs977467	0.86[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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12541098	C8orf46	cis	Artery Aorta	GTEx

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67330800-67337000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:67330800-67337000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:67330800-67340200	Weak transcription	Pancreas	Pancrea
4	chr8:67331000-67340200	Weak transcription	Liver	Liver
5	chr8:67332600-67336800	Weak transcription	Placenta	Placenta
6	chr8:67333200-67340200	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr8:67334000-67336600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:67334000-67340200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr8:67334000-67340200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:67334200-67336600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr8:67334200-67337000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:67334400-67336600	Weak transcription	NH-A	brain
13	chr8:67334400-67340200	Weak transcription	A549	lung
14	chr8:67334400-67340200	Weak transcription	GM12878-XiMat	blood
15	chr8:67334600-67339800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:67334600-67340000	Weak transcription	NHDF-Ad	bronchial
17	chr8:67334600-67340200	Weak transcription	HUVEC	blood vessel
18	chr8:67335200-67340000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr8:67335400-67340200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:67335600-67340200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr8:67335600-67340200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr8:67335600-67340200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr8:67335600-67340200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr8:67335600-67340200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr8:67335600-67340400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:67336000-67337400	Enhancers	Osteobl	bone

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