Variant report

Variant	rs10047970
Chromosome Location	chr15:49750428-49750429
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 160 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:157)

rs_ID	r²[population]
rs10083602	0.93[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs10152754	0.82[CEU][hapmap]
rs10152787	0.92[EUR][1000 genomes]
rs10162802	0.93[EUR][1000 genomes]
rs10467920	0.93[EUR][1000 genomes]
rs1048348	0.86[CEU][hapmap];0.86[TSI][hapmap]
rs10519230	0.86[CEU][hapmap];0.82[EUR][1000 genomes]
rs1057636	0.92[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs1057638	0.92[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs11070693	0.86[CEU][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes]
rs11070694	0.98[EUR][1000 genomes]
rs11070696	0.95[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs11070699	1.00[YRI][hapmap]
rs11070708	0.81[EUR][1000 genomes]
rs11630629	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs11631040	0.86[CEU][hapmap];0.85[TSI][hapmap]
rs11631904	0.93[EUR][1000 genomes]
rs11632003	0.92[EUR][1000 genomes]
rs11632674	1.00[CEU][hapmap];0.96[YRI][hapmap];0.91[EUR][1000 genomes]
rs11634751	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs11636378	0.95[CEU][hapmap];0.93[EUR][1000 genomes]
rs11636795	0.86[CEU][hapmap]
rs11638378	0.81[EUR][1000 genomes]
rs11852524	0.86[CEU][hapmap];0.84[TSI][hapmap]
rs11857320	0.86[CEU][hapmap];0.84[TSI][hapmap]
rs12185128	0.93[EUR][1000 genomes]
rs12437460	0.96[EUR][1000 genomes]
rs12437899	0.93[EUR][1000 genomes]
rs12438444	0.96[EUR][1000 genomes]
rs12438856	0.94[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs12439479	0.81[EUR][1000 genomes]
rs12440028	0.93[EUR][1000 genomes]
rs12440099	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12440323	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs12441004	0.93[EUR][1000 genomes]
rs12441304	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs12442143	0.96[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs12443123	0.91[EUR][1000 genomes]
rs12902794	0.83[YRI][hapmap]
rs1354920	0.82[YRI][hapmap]
rs1395902	0.91[EUR][1000 genomes]
rs1532955	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.87[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap]
rs1546424	0.80[YRI][hapmap]
rs1546425	0.81[YRI][hapmap]
rs1588130	1.00[CEU][hapmap]
rs1588131	0.93[EUR][1000 genomes]
rs1588132	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs1605477	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs1605478	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs1605479	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs1605481	1.00[CEU][hapmap]
rs16962490	0.86[CEU][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes]
rs16962528	0.96[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs16973952	0.93[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs17401417	0.98[EUR][1000 genomes]
rs17482113	0.81[EUR][1000 genomes]
rs1848289	0.93[EUR][1000 genomes]
rs1857992	0.91[EUR][1000 genomes]
rs1874612	0.88[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs1874615	0.94[ASW][hapmap];1.00[CEU][hapmap];0.98[LWK][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs1874616	0.88[ASW][hapmap];0.98[LWK][hapmap];1.00[YRI][hapmap]
rs1911614	0.94[ASW][hapmap];1.00[CEU][hapmap];0.98[LWK][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.91[EUR][1000 genomes]
rs2007474	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2202714	1.00[YRI][hapmap]
rs2413946	0.96[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs2413952	0.91[EUR][1000 genomes]
rs2413953	0.94[ASW][hapmap];1.00[CEU][hapmap];0.98[LWK][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2413954	1.00[CEU][hapmap];0.80[JPT][hapmap];0.86[YRI][hapmap]
rs2413957	0.93[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs2413959	1.00[CEU][hapmap];0.95[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs28460471	0.96[EUR][1000 genomes]
rs28788326	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs28815194	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs28822970	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs28836194	0.89[EUR][1000 genomes]
rs28841970	0.91[EUR][1000 genomes]
rs28842346	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs28871940	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs28873717	0.85[EUR][1000 genomes]
rs2899433	0.84[ASW][hapmap];1.00[CEU][hapmap];0.84[LWK][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs35715933	0.83[EUR][1000 genomes]
rs4303431	1.00[CEU][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs4321137	0.83[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs4350524	0.94[ASW][hapmap];1.00[CEU][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap]
rs4614670	0.82[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs4774539	0.80[YRI][hapmap]
rs4775811	0.92[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs4775814	1.00[CEU][hapmap];1.00[GIH][hapmap];0.97[TSI][hapmap]
rs4775815	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[LWK][hapmap];0.85[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap]
rs4775817	0.81[EUR][1000 genomes]
rs55993510	0.91[EUR][1000 genomes]
rs56094557	0.93[EUR][1000 genomes]
rs56335122	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs56692783	0.91[EUR][1000 genomes]
rs57186766	0.84[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs57421305	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs57980364	0.93[EUR][1000 genomes]
rs57997677	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs58284238	0.92[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs58410445	0.96[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs60216777	0.88[EUR][1000 genomes]
rs60728602	0.93[EUR][1000 genomes]
rs62009983	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs62009985	0.86[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs62021583	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs62021584	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs62021585	0.90[EUR][1000 genomes]
rs62021586	0.91[EUR][1000 genomes]
rs62021587	0.91[EUR][1000 genomes]
rs6493369	0.86[CEU][hapmap];0.85[TSI][hapmap]
rs6493371	1.00[ASW][hapmap];1.00[CEU][hapmap];0.98[LWK][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs6493373	0.93[EUR][1000 genomes]
rs6493376	1.00[CEU][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs67428220	0.93[EUR][1000 genomes]
rs67916122	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs68095295	0.87[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs692008	0.83[EUR][1000 genomes]
rs7162351	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs7162792	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs7162800	1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7166049	0.83[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs7166202	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs7166498	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs7167041	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs7167429	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs7167883	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs7168031	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs7170426	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs7176350	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs7177247	0.87[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7178143	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs7178194	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs7178468	1.00[CEU][hapmap]
rs7181916	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs7182072	0.91[EUR][1000 genomes]
rs7183313	0.93[EUR][1000 genomes]
rs733097	0.94[ASW][hapmap];1.00[CEU][hapmap];0.98[LWK][hapmap];0.85[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.89[EUR][1000 genomes]
rs753857	0.84[ASW][hapmap];0.90[YRI][hapmap]
rs8026236	0.94[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs8029561	0.93[EUR][1000 genomes]
rs8029743	0.87[EUR][1000 genomes]
rs8030761	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs8032952	0.85[EUR][1000 genomes]
rs8034202	0.93[EUR][1000 genomes]
rs8034473	0.80[YRI][hapmap]
rs8035468	1.00[CEU][hapmap];0.96[YRI][hapmap];0.91[EUR][1000 genomes]
rs8036139	0.93[EUR][1000 genomes]
rs8036805	0.85[EUR][1000 genomes]
rs8039062	0.96[EUR][1000 genomes]
rs8040436	0.80[YRI][hapmap]
rs8041493	0.91[EUR][1000 genomes]
rs906419	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs9302148	0.92[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs965134	1.00[CEU][hapmap]
rs9972329	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs9972429	0.94[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs9972565	0.94[AFR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039368	chr15:49566094-49764066	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv833002	chr15:49621400-49781799	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv9263	chr15:49734435-49809465	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10047970	DTWD1	cis	cerebellum	SCAN
rs10047970	CATSPER2P1	cis	cerebellum	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49737000-49751200	Weak transcription	Ovary	ovary
2	chr15:49742000-49752000	Weak transcription	Adipose Nuclei	Adipose
3	chr15:49747200-49751400	Enhancers	NHDF-Ad	bronchial
4	chr15:49747200-49752600	Enhancers	Osteobl	bone
5	chr15:49747400-49753000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr15:49747600-49751400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr15:49749000-49752000	Weak transcription	Fetal Heart	heart
8	chr15:49749200-49753600	Weak transcription	Fetal Lung	lung
9	chr15:49750000-49753400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr15:49750200-49750600	Enhancers	HSMM	muscle
11	chr15:49750200-49751200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr15:49750200-49752200	Enhancers	Colon Smooth Muscle	Colon
13	chr15:49750200-49752800	Enhancers	Rectal Smooth Muscle	rectum
14	chr15:49750200-49752800	Enhancers	NHLF	lung
15	chr15:49750400-49750600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr15:49750400-49750600	Enhancers	Stomach Smooth Muscle	stomach
17	chr15:49750400-49751200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr15:49750400-49754200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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