Variant report

Variant	rs10513559
Chromosome Location	chr3:160667465-160667466
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	chr3:160659734..160663014-chr3:160666194..160669867,3	K562	blood:
2	chr3:160666317..160670196-chr3:160671077..160673874,3	MCF-7	breast:

Extended variants
information (count: 83 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs1037888	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10513562	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs11708076	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11708813	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs11716265	0.87[ASW][hapmap];1.00[CEU][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.81[MEX][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap]
rs11922752	1.00[CEU][hapmap]
rs12639128	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13064176	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13073571	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13086250	1.00[CEU][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes]
rs13089559	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13092102	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs13097130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13098884	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1374793	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs1447618	1.00[CEU][hapmap]
rs1447619	1.00[CEU][hapmap]
rs1447620	1.00[CEU][hapmap]
rs1455873	1.00[YRI][hapmap]
rs1610158	0.89[CEU][hapmap];0.90[MEX][hapmap];0.82[TSI][hapmap]
rs17236725	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs17236746	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17826438	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1839021	0.80[EUR][1000 genomes]
rs2121718	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2306061	0.85[CEU][hapmap];0.90[MEX][hapmap];0.82[TSI][hapmap]
rs2367242	1.00[YRI][hapmap]
rs2593812	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs34168351	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34297047	0.83[EUR][1000 genomes]
rs4342141	0.81[CEU][hapmap]
rs4557202	0.85[CEU][hapmap]
rs4679662	1.00[CEU][hapmap]
rs4679666	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs4679671	0.86[EUR][1000 genomes]
rs4679922	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4679924	0.87[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4679926	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs5004752	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs55672403	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55888276	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61105146	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62280303	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62280331	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62280333	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6441339	1.00[CEU][hapmap]
rs6441354	0.85[CEU][hapmap]
rs6764019	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6786871	0.84[EUR][1000 genomes]
rs6796201	0.83[EUR][1000 genomes]
rs6799160	0.92[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs6804650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6806054	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs6809177	1.00[CEU][hapmap];0.81[GIH][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes]
rs723757	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7622047	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7628880	0.86[EUR][1000 genomes]
rs7632423	1.00[CEU][hapmap];0.87[GIH][hapmap];0.98[TSI][hapmap];0.85[EUR][1000 genomes]
rs778642	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs778643	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs778645	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs778646	0.90[EUR][1000 genomes]
rs778648	0.84[EUR][1000 genomes]
rs778649	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs778653	1.00[CEU][hapmap];0.87[GIH][hapmap];0.98[TSI][hapmap];0.89[EUR][1000 genomes]
rs778654	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs778657	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs778663	0.88[EUR][1000 genomes]
rs796609	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs898680	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs898681	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs9290065	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.89[TSI][hapmap]
rs9790132	1.00[ASW][hapmap];0.96[CEU][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.81[MEX][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs980975	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs980976	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9811594	1.00[CEU][hapmap];0.87[GIH][hapmap];0.98[TSI][hapmap];0.86[EUR][1000 genomes]
rs9820825	0.87[CEU][hapmap]
rs9831488	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap]
rs9839885	1.00[YRI][hapmap]
rs9847866	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs9860360	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs9875200	1.00[CEU][hapmap];0.86[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532666	chr3:159777847-160703202	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10513559	PPM1L	cis	cerebellum	SCAN
rs10513559	NMD3	cis	parietal	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160666000-160668000	Enhancers	HepG2	liver
2	chr3:160666200-160669000	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr3:160666400-160668200	Weak transcription	Gastric	stomach
4	chr3:160666400-160669400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr3:160666400-160669600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr3:160666400-160669600	Weak transcription	Left Ventricle	heart
7	chr3:160666400-160673400	Weak transcription	Right Atrium	heart
8	chr3:160666600-160668200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr3:160666800-160668000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr3:160666800-160668200	Enhancers	Primary T cells from cord blood	blood
11	chr3:160666800-160668200	Weak transcription	Liver	Liver
12	chr3:160667000-160667800	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr3:160667000-160668000	Weak transcription	Psoas Muscle	Psoas
14	chr3:160667000-160668200	Enhancers	Dnd41	blood
15	chr3:160667200-160667600	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr3:160667200-160667600	Enhancers	Fetal Thymus	thymus
17	chr3:160667200-160667800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr3:160667200-160667800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
19	chr3:160667400-160667800	Enhancers	Thymus	Thymus
20	chr3:160667400-160668600	Enhancers	Pancreas	Pancrea
21	chr3:160667400-160669200	Weak transcription	Fetal Kidney	kidney
22	chr3:160667400-160696000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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