Variant report

Variant	rs13417310
Chromosome Location	chr2:191410588-191410589
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:191319837..191321780-chr2:191409480..191411973,2	K562	blood:
2	chr2:191404829..191406532-chr2:191409105..191411323,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10169169	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10171376	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10173975	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10179262	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10185147	0.94[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10185228	0.81[EUR][1000 genomes]
rs10189140	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10202274	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10204342	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10208737	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10209340	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10211375	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10737936	0.83[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];0.92[MEX][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes]
rs11553601	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11695439	1.00[CHB][hapmap];0.92[CHD][hapmap];0.84[ASN][1000 genomes]
rs13031452	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13384743	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13386210	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13388162	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13395233	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13398741	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13405215	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13410179	1.00[CHB][hapmap];0.96[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.94[TSI][hapmap];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13412663	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13412823	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13412835	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13412879	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13418943	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13429315	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1837686	0.87[ASN][1000 genomes]
rs3811608	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4283453	1.00[CHB][hapmap];0.92[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.94[TSI][hapmap];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4853712	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4853719	0.81[EUR][1000 genomes]
rs56715527	0.84[ASN][1000 genomes]
rs58210597	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58253207	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58433478	0.92[ASN][1000 genomes]
rs58708643	0.87[ASN][1000 genomes]
rs6434401	0.83[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];0.92[MEX][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes]
rs6706036	0.81[EUR][1000 genomes]
rs6711561	0.81[EUR][1000 genomes]
rs6717050	0.97[ASN][1000 genomes]
rs6741118	0.81[EUR][1000 genomes]
rs72903349	0.82[ASN][1000 genomes]
rs72903383	0.86[ASN][1000 genomes]
rs72905242	0.92[ASN][1000 genomes]
rs73054092	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7556716	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7560045	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7562013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7564107	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7574844	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7584379	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7594994	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7609330	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs894072	1.00[CHB][hapmap];0.92[CHD][hapmap];0.86[ASN][1000 genomes]
rs8962	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9288174	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9967829	0.83[CEU][hapmap];0.82[CHB][hapmap];0.81[EUR][1000 genomes]

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs13417310	FLJ20160	Cis_1M	lymphoblastoid	RTeQTL
rs13417310	TMEM194B	cis	cerebellum	SCAN
rs13417310	FLJ20160	cis	multi-tissue	Pritchard
rs13417310	ASNSD1	cis	parietal	SCAN
rs13417310	TMEM194B	cis	Esophagus Mucosa	GTEx
rs13417310	MFSD6	cis	parietal	SCAN
rs13417310	NAB1	cis	Esophagus Mucosa	GTEx
rs13417310	MFSD6	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191403000-191416800	Weak transcription	Gastric	stomach
2	chr2:191405400-191416800	Weak transcription	Esophagus	oesophagus
3	chr2:191408400-191411600	Weak transcription	Psoas Muscle	Psoas
4	chr2:191409400-191413600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:191409800-191410600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:191409800-191410600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:191409800-191410600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:191409800-191410600	Flanking Active TSS	Osteobl	bone
9	chr2:191409800-191410800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:191409800-191410800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:191409800-191410800	Active TSS	Aorta	Aorta
12	chr2:191410000-191410600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr2:191410000-191410600	Active TSS	Adipose Nuclei	Adipose
14	chr2:191410000-191410600	Active TSS	Fetal Lung	lung
15	chr2:191410000-191410600	Active TSS	Ovary	ovary
16	chr2:191410000-191410600	Active TSS	HMEC	breast
17	chr2:191410000-191411000	Active TSS	Right Atrium	heart
18	chr2:191410200-191410600	Active TSS	A549	lung
19	chr2:191410200-191410600	Enhancers	HSMM	muscle
20	chr2:191410400-191410600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:191410400-191410600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr2:191410400-191410600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:191410400-191410600	Flanking Active TSS	Rectal Smooth Muscle	rectum
24	chr2:191410400-191410800	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr2:191410400-191411000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:191410400-191411000	Weak transcription	Brain Anterior Caudate	brain
27	chr2:191410400-191414000	Weak transcription	NHLF	lung

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