Variant report

Variant	rs13280813
Chromosome Location	chr8:11425105-11425106
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:11424667..11425261-chr8:11603180..11604185,3	MCF-7	breast:
2	chr8:11424139..11425217-chr8:11815416..11817027,6	K562	blood:
3	chr8:11424324..11425489-chr8:11573800..11574792,3	MCF-7	breast:

Extended variants
information (count: 54 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10098664	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10108511	1.00[JPT][hapmap]
rs1042701	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11783065	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11985709	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11991139	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12541800	0.83[EUR][1000 genomes]
rs12549144	0.83[EUR][1000 genomes]
rs12549150	0.83[EUR][1000 genomes]
rs1382563	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1382567	0.81[MEX][hapmap]
rs2127127	0.88[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2252534	1.00[JPT][hapmap]
rs2252797	1.00[JPT][hapmap]
rs2409798	0.85[CEU][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.82[EUR][1000 genomes]
rs2409799	0.82[EUR][1000 genomes]
rs2618443	1.00[JPT][hapmap]
rs2618445	1.00[JPT][hapmap]
rs2618450	1.00[JPT][hapmap]
rs2729940	1.00[JPT][hapmap]
rs2898290	0.82[EUR][1000 genomes]
rs34190028	0.90[EUR][1000 genomes]
rs35181953	0.82[EUR][1000 genomes]
rs35558344	0.81[EUR][1000 genomes]
rs36048422	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4840567	0.81[MEX][hapmap]
rs4841559	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4841564	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4841567	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6983727	0.88[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7464263	0.88[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs7822958	0.89[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.95[TSI][hapmap]
rs7831039	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7843987	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9650661	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1017865	chr8:11377795-11579954	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv520117	chr8:11391650-11429147	Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv465466	chr8:11391650-11429147	Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv610289	chr8:11391650-11429147	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv465467	chr8:11391650-11430485	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv610290	chr8:11391650-11430485	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	esv2761407	chr8:11392880-11429147	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv1029589	chr8:11392880-11429147	ZNF genes & repeats Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv1026837	chr8:11394466-11464127	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv1018959	chr8:11395232-11455756	Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv890358	chr8:11396856-11448738	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	nsv1033629	chr8:11401789-11466745	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	nsv523827	chr8:11408401-11486220	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	nsv1032195	chr8:11420541-11480692	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
19	nsv1016749	chr8:11422571-11466745	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs13280813	C8orf48	cis	cerebellum	SCAN
rs13280813	MFHAS1	cis	cerebellum	SCAN
rs13280813	TDH	cis	cerebellum	SCAN
rs13280813	BLK	Cis_1M	lymphoblastoid	RTeQTL
rs13280813	C8orf5	Cis_1M	lymphoblastoid	RTeQTL
rs13280813	FAM167A	cis	lymphoblastoid	seeQTL
rs13280813	FLJ10661	cis	cerebellum	SCAN
rs13280813	DEFB134	cis	parietal	SCAN
rs13280813	PRSS55	cis	cerebellum	SCAN

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11422600-11425200	Enhancers	HMEC	breast
2	chr8:11422600-11429600	Weak transcription	Right Atrium	heart
3	chr8:11422800-11429000	Weak transcription	Pancreas	Pancrea
4	chr8:11423200-11425600	Enhancers	Primary B cells from peripheral blood	blood
5	chr8:11423400-11425200	Enhancers	NH-A	brain
6	chr8:11423600-11425400	Bivalent Enhancer	NHEK	skin
7	chr8:11423800-11425200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:11423800-11425400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:11424200-11425600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
10	chr8:11424400-11425200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:11424400-11425200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:11424400-11425200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr8:11424400-11425800	Enhancers	Placenta	Placenta
14	chr8:11424400-11430800	Enhancers	Fetal Heart	heart
15	chr8:11424600-11425200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:11424600-11425200	Enhancers	GM12878-XiMat	blood
17	chr8:11424600-11429600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:11424800-11425200	Enhancers	Fetal Intestine Small	intestine
19	chr8:11424800-11425200	Enhancers	Spleen	Spleen
20	chr8:11424800-11425400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
21	chr8:11424800-11425400	Enhancers	Right Ventricle	heart
22	chr8:11424800-11425400	Flanking Active TSS	Hela-S3	cervix
23	chr8:11424800-11425600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
24	chr8:11424800-11425600	Enhancers	HSMMtube	muscle
25	chr8:11424800-11426400	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr8:11424800-11427800	Enhancers	Ovary	ovary
27	chr8:11425000-11425200	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
28	chr8:11425000-11425200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:11425000-11425200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:11425000-11425200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
31	chr8:11425000-11425200	Bivalent Enhancer	Lung	lung
32	chr8:11425000-11425200	Flanking Bivalent TSS/Enh	HepG2	liver
33	chr8:11425000-11425200	Flanking Active TSS	HSMM	muscle
34	chr8:11425000-11425200	Enhancers	HUVEC	blood vessel
35	chr8:11425000-11425400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr8:11425000-11425600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
37	chr8:11425000-11426600	Enhancers	Left Ventricle	heart

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