Variant report

Variant	rs6131480
Chromosome Location	chr20:13451069-13451070
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs11698396	1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs12329562	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13041649	0.85[ASN][1000 genomes]
rs1973948	0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs2073323	0.94[ASN][1000 genomes]
rs2327789	0.96[ASN][1000 genomes]
rs28444692	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2876356	1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[ASN][1000 genomes]
rs3789343	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3789344	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3789345	1.00[CHB][hapmap];0.93[JPT][hapmap];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3789350	1.00[CHB][hapmap];0.93[JPT][hapmap];0.93[ASN][1000 genomes]
rs4411781	1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[ASN][1000 genomes]
rs6033720	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6033723	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6033727	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033731	1.00[CHB][hapmap];0.93[JPT][hapmap];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6033733	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6033735	1.00[CHB][hapmap];0.93[JPT][hapmap];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6033736	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6033737	0.94[ASN][1000 genomes]
rs6033741	0.95[ASN][1000 genomes]
rs6033745	1.00[CHB][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs6033755	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6042156	0.96[ASN][1000 genomes]
rs6042167	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6042174	0.94[ASN][1000 genomes]
rs6042176	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6042179	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6042181	1.00[CHB][hapmap];0.93[JPT][hapmap];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6042183	1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[ASN][1000 genomes]
rs6042184	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6042186	0.95[ASN][1000 genomes]
rs6042212	0.84[ASN][1000 genomes]
rs6042222	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6105115	1.00[CHB][hapmap];0.93[JPT][hapmap];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6105116	1.00[CHB][hapmap];0.93[JPT][hapmap];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6109906	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109908	0.96[ASN][1000 genomes]
rs6109913	1.00[CHB][hapmap];0.93[JPT][hapmap];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6109915	0.95[ASN][1000 genomes]
rs6131478	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6131481	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6131482	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6134872	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6134882	0.92[CHB][hapmap];0.92[JPT][hapmap];0.95[ASN][1000 genomes]
rs6134883	1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[ASN][1000 genomes]
rs6134885	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6134890	1.00[CHB][hapmap];0.93[JPT][hapmap];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6134892	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6134893	0.93[ASN][1000 genomes]
rs6134894	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6134896	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6134897	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6134899	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6134904	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6134907	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6134908	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6134909	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6134911	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6134913	1.00[CHB][hapmap];0.81[JPT][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6134914	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6134915	0.85[ASN][1000 genomes]
rs6134918	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[EUR][1000 genomes]
rs6134928	0.85[JPT][hapmap]
rs6134941	0.86[JPT][hapmap]
rs6514391	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7273818	0.85[JPT][hapmap]
rs73080067	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73080080	0.93[ASN][1000 genomes]
rs73086022	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73086039	0.81[ASN][1000 genomes]
rs8115098	1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[ASN][1000 genomes]
rs8123095	0.87[ASN][1000 genomes]
rs8124555	0.81[ASN][1000 genomes]
rs8126063	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8184309	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3425983	chr20:13046768-13461834	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1062049	chr20:13347580-13477455	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv544186	chr20:13347580-13477455	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1061303	chr20:13395546-13810990	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv585435	chr20:13410638-13582476	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv916202	chr20:13421724-14043615	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv1059817	chr20:13422602-13807968	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv458871	chr20:13447896-13573415	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv585436	chr20:13447896-13573415	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6131480	TASP1	cis	lung	GTEx

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13379200-13463000	Weak transcription	HSMM	muscle
2	chr20:13395600-13477800	Weak transcription	Gastric	stomach
3	chr20:13422000-13460400	Weak transcription	Primary B cells from cord blood	blood
4	chr20:13422000-13461200	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr20:13430000-13467800	Weak transcription	Ovary	ovary
6	chr20:13430200-13467800	Weak transcription	Pancreas	Pancrea
7	chr20:13433800-13452200	Weak transcription	Fetal Intestine Small	intestine
8	chr20:13435400-13460400	Weak transcription	Fetal Thymus	thymus
9	chr20:13435400-13462000	Weak transcription	Left Ventricle	heart
10	chr20:13435600-13454200	Weak transcription	Primary B cells from peripheral blood	blood
11	chr20:13435600-13460600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr20:13436600-13458800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr20:13436600-13460800	Weak transcription	Primary T cells from cord blood	blood
14	chr20:13438400-13452600	Strong transcription	Dnd41	blood
15	chr20:13442600-13461800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr20:13442600-13471600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr20:13442800-13467800	Weak transcription	Aorta	Aorta
18	chr20:13443400-13461200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr20:13444800-13452400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr20:13445000-13460200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr20:13445400-13467800	Weak transcription	Fetal Stomach	stomach
22	chr20:13445600-13461000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr20:13446200-13460800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr20:13450200-13460400	Weak transcription	Fetal Lung	lung
25	chr20:13450200-13461000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr20:13450200-13461800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr20:13450400-13452000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr20:13450400-13457600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr20:13450400-13461000	Weak transcription	HepG2	liver
30	chr20:13450400-13461200	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr20:13450800-13461200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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