Variant report

Variant	rs13257313
Chromosome Location	chr8:10162381-10162382
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11249985	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11249990	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.83[AMR][1000 genomes]
rs11249991	0.81[MEX][hapmap]
rs11774051	0.88[AMR][1000 genomes]
rs11782293	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11783091	1.00[ASW][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.85[AMR][1000 genomes]
rs11783281	0.89[AMR][1000 genomes]
rs13264133	0.89[AMR][1000 genomes]
rs13269741	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13272537	0.89[AMR][1000 genomes]
rs17695316	0.86[AMR][1000 genomes]
rs2004677	0.88[AMR][1000 genomes]
rs2004679	0.91[MEX][hapmap];0.82[TSI][hapmap];0.83[AMR][1000 genomes]
rs34514972	0.81[AMR][1000 genomes]
rs34917779	0.87[AMR][1000 genomes]
rs35287467	0.82[AMR][1000 genomes]
rs4570161	1.00[GIH][hapmap];0.80[TSI][hapmap]
rs4840478	0.90[CEU][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4841308	0.87[AMR][1000 genomes]
rs4841315	1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4841326	0.85[GIH][hapmap];0.91[MEX][hapmap]
rs55965226	0.89[AMR][1000 genomes]
rs6601436	0.91[CEU][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6601438	0.81[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71516564	0.88[AMR][1000 genomes]
rs723609	0.94[CEU][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7817142	0.95[CEU][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7838059	0.91[CEU][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9650648	0.82[AMR][1000 genomes]
rs9650649	1.00[GIH][hapmap];0.81[TSI][hapmap];0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021921	chr8:9958259-10212555	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv831231	chr8:10001214-10189094	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1016347	chr8:10091475-10223667	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1028650	chr8:10101815-10178537	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv890347	chr8:10153082-10331636	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv610264	chr8:10158428-10181176	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs13257313	MFHAS1	cis	cerebellum	SCAN
rs13257313	XKR6	cis	cerebellum	SCAN
rs13257313	FLJ10661	cis	cerebellum	SCAN
rs13257313	XKR5	cis	parietal	SCAN
rs13257313	PRSS55	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10144400-10167000	Weak transcription	Right Ventricle	heart
2	chr8:10149400-10163400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr8:10151400-10177000	Weak transcription	Fetal Intestine Small	intestine
4	chr8:10151400-10178800	Weak transcription	Spleen	Spleen
5	chr8:10153400-10167000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:10154400-10163200	Weak transcription	Esophagus	oesophagus
7	chr8:10157200-10177600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr8:10158000-10177400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr8:10158200-10163400	Weak transcription	Primary T cells from cord blood	blood
10	chr8:10158600-10166800	Weak transcription	Lung	lung
11	chr8:10158600-10178200	Weak transcription	Brain Anterior Caudate	brain
12	chr8:10158800-10177600	Weak transcription	Primary B cells from cord blood	blood
13	chr8:10159000-10177400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr8:10159200-10170600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:10160200-10170400	Weak transcription	Fetal Brain Female	brain
16	chr8:10160600-10166200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr8:10160600-10167800	Weak transcription	Liver	Liver
18	chr8:10160800-10162800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr8:10161000-10165600	Weak transcription	Brain Germinal Matrix	brain
20	chr8:10161000-10165800	Weak transcription	Fetal Brain Male	brain
21	chr8:10161400-10164000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr8:10161800-10177600	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr8:10162200-10163200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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