Variant report

Variant	rs10503380
Chromosome Location	chr8:9410495-9410496
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10087012	0.86[EUR][1000 genomes]
rs10087166	0.83[EUR][1000 genomes]
rs10088969	0.86[EUR][1000 genomes]
rs10098758	0.86[EUR][1000 genomes]
rs10101953	0.87[EUR][1000 genomes]
rs10102030	0.84[EUR][1000 genomes]
rs10103426	0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10111980	0.93[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10794712	0.84[CEU][hapmap]
rs10903314	0.83[CHD][hapmap];0.87[GIH][hapmap]
rs11249938	0.88[CEU][hapmap]
rs11249942	0.84[CEU][hapmap]
rs11779335	0.84[CEU][hapmap];0.84[GIH][hapmap]
rs11984585	0.87[EUR][1000 genomes]
rs11985349	0.86[EUR][1000 genomes]
rs11995920	0.84[EUR][1000 genomes]
rs12541409	0.82[EUR][1000 genomes]
rs12543534	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12545912	0.83[CEU][hapmap];0.82[GIH][hapmap]
rs12548306	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12674762	0.81[CHD][hapmap];0.87[GIH][hapmap]
rs12675476	0.84[EUR][1000 genomes]
rs12675511	0.84[EUR][1000 genomes]
rs12676898	0.84[EUR][1000 genomes]
rs12681719	0.87[EUR][1000 genomes]
rs13249683	0.81[CEU][hapmap]
rs13271097	0.88[CEU][hapmap];0.95[JPT][hapmap];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13273033	0.84[CEU][hapmap];0.82[GIH][hapmap]
rs17150237	0.95[CHD][hapmap];0.87[GIH][hapmap];0.94[JPT][hapmap];0.87[TSI][hapmap];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28622033	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28668310	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs33945943	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34206126	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34324628	0.81[EUR][1000 genomes]
rs34790717	0.83[EUR][1000 genomes]
rs4128199	0.84[EUR][1000 genomes]
rs4240626	0.83[CHD][hapmap];0.87[GIH][hapmap]
rs4240629	0.84[CEU][hapmap]
rs4398920	0.83[CHD][hapmap];0.87[GIH][hapmap]
rs4535744	0.84[CEU][hapmap]
rs4626603	0.88[CEU][hapmap]
rs4840427	0.86[CHD][hapmap]
rs4840428	0.83[EUR][1000 genomes]
rs4841173	0.84[EUR][1000 genomes]
rs4841174	0.84[EUR][1000 genomes]
rs4841175	0.84[EUR][1000 genomes]
rs4841179	0.90[GIH][hapmap]
rs4841212	0.84[CEU][hapmap];0.82[GIH][hapmap]
rs57453266	0.82[EUR][1000 genomes]
rs58238328	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61551896	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62493868	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6601330	0.80[EUR][1000 genomes]
rs6601331	0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6601332	0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6601333	0.82[CHD][hapmap];0.87[GIH][hapmap];0.84[EUR][1000 genomes]
rs6601334	0.87[CEU][hapmap];0.83[JPT][hapmap];0.84[EUR][1000 genomes]
rs6601335	0.84[EUR][1000 genomes]
rs6601336	0.83[EUR][1000 genomes]
rs6601337	0.84[EUR][1000 genomes]
rs66516712	0.84[EUR][1000 genomes]
rs67706102	0.84[EUR][1000 genomes]
rs6980831	0.91[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.83[TSI][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6986386	0.91[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6989126	0.84[EUR][1000 genomes]
rs6990097	0.90[JPT][hapmap]
rs6990590	0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7010270	0.84[CEU][hapmap]
rs7013500	0.83[EUR][1000 genomes]
rs7461376	0.83[CEU][hapmap]
rs7462910	0.84[CEU][hapmap];0.84[GIH][hapmap]
rs7814014	0.86[CHD][hapmap];0.84[GIH][hapmap];0.83[EUR][1000 genomes]
rs7815817	0.83[EUR][1000 genomes]
rs7821559	0.84[CHD][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];0.80[EUR][1000 genomes]
rs7822548	0.80[EUR][1000 genomes]
rs7822904	0.83[CEU][hapmap]
rs7832096	0.90[GIH][hapmap]
rs7834823	0.86[CHD][hapmap];0.87[GIH][hapmap];0.82[EUR][1000 genomes]
rs7844450	0.84[EUR][1000 genomes]
rs7846140	0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9329202	0.90[JPT][hapmap]
rs9329203	0.82[CHD][hapmap];0.90[JPT][hapmap];0.85[EUR][1000 genomes]
rs9644677	0.91[CHD][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9650638	0.84[CEU][hapmap]

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	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv497927	chr8:9097611-9544519	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1030524	chr8:9183482-9412833	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1033031	chr8:9310266-9418941	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs10503380	TNKS	cis	cerebellum	SCAN
rs10503380	TNKS	cis	parietal	SCAN
rs10503380	DEFB134	cis	cerebellum	SCAN
rs10503380	PRSS55	cis	cerebellum	SCAN
rs10503380	UTS2	trans	lymphoblastoid	seeQTL
rs10503380	FLJ10661	cis	cerebellum	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9404000-9412000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr8:9404800-9412800	Weak transcription	Right Atrium	heart
3	chr8:9407800-9412200	Weak transcription	Fetal Intestine Large	intestine
4	chr8:9409000-9412200	Weak transcription	Fetal Intestine Small	intestine
5	chr8:9409400-9411800	Enhancers	HepG2	liver
6	chr8:9409400-9412000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr8:9409800-9411000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:9409800-9412600	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr8:9410000-9410600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:9410000-9411400	Weak transcription	K562	blood
11	chr8:9410000-9412600	Weak transcription	Primary B cells from cord blood	blood
12	chr8:9410000-9412600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr8:9410200-9410800	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr8:9410200-9412200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:9410200-9412400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr8:9410200-9412600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr8:9410200-9412600	Weak transcription	Osteobl	bone
18	chr8:9410200-9412800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:9410200-9412800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr8:9410400-9412200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:9410400-9412400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr8:9410400-9412400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:9410400-9412400	Weak transcription	GM12878-XiMat	blood
24	chr8:9410400-9412600	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr8:9410400-9412600	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr8:9410400-9412600	Weak transcription	Primary B cells from peripheral blood	blood
27	chr8:9410400-9412600	Weak transcription	Monocytes-CD14+_RO01746	blood

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