Variant report

Variant	rs16957063
Chromosome Location	chr15:42984288-42984289
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:42983652..42985690-chr15:42986702..42989327,2	K562	blood:
2	chr15:42983549..42985784-chr15:42989459..42991340,2	K562	blood:
3	chr15:42972306..42975288-chr15:42982753..42985416,2	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10467975	0.93[ASW][hapmap];0.84[LWK][hapmap];0.85[YRI][hapmap]
rs11070382	0.93[ASW][hapmap];0.84[LWK][hapmap];0.81[YRI][hapmap]
rs11853250	0.86[ASW][hapmap];0.84[LWK][hapmap]
rs11854550	0.84[YRI][hapmap]
rs12323990	0.93[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12324135	0.87[EUR][1000 genomes]
rs12591415	0.93[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.84[YRI][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12592374	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12592573	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12594325	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12594378	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12594600	0.93[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12594696	0.93[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12594699	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12594724	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12594725	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12594765	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12594837	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12595722	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs16957031	0.85[YRI][hapmap];0.89[AFR][1000 genomes]
rs16957037	0.93[ASW][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes]
rs16957043	1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs16957055	1.00[ASW][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16957061	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16957120	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16957165	0.81[YRI][hapmap]
rs16957244	0.92[ASW][hapmap];0.84[LWK][hapmap];0.81[YRI][hapmap]
rs1915242	0.87[EUR][1000 genomes]
rs1915243	1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs28431056	1.00[ASN][1000 genomes]
rs28437884	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28542286	0.87[AFR][1000 genomes]
rs28661826	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28680600	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28699522	0.87[EUR][1000 genomes]
rs28736688	1.00[EUR][1000 genomes]
rs3742992	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3742995	1.00[ASW][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];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4334272	0.93[ASW][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56046122	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56839966	0.87[EUR][1000 genomes]
rs58237318	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58548142	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60723187	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61747153	0.98[ASN][1000 genomes]
rs6493056	1.00[MEX][hapmap]
rs6493065	0.86[ASW][hapmap];0.97[LWK][hapmap];0.95[YRI][hapmap]
rs7169231	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7169238	0.85[ASN][1000 genomes]
rs7178483	1.00[EUR][1000 genomes]
rs7181238	0.86[ASW][hapmap];0.86[LWK][hapmap];0.90[YRI][hapmap]
rs73408611	0.87[EUR][1000 genomes]
rs73408619	1.00[EUR][1000 genomes]
rs73410923	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73410927	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410931	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410937	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410940	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73410959	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73410961	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410969	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410971	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410972	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410973	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410981	0.87[EUR][1000 genomes]
rs8023743	1.00[EUR][1000 genomes]
rs8028365	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8028699	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8033336	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8036733	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8043143	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs9920092	0.84[YRI][hapmap]
rs9920562	0.86[LWK][hapmap];0.90[YRI][hapmap]
rs9920624	0.85[YRI][hapmap]
rs9920935	0.97[LWK][hapmap];0.90[YRI][hapmap]
rs9944270	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528725	chr15:42755555-43104406	Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv427959	chr15:42931181-43207353	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv457122	chr15:42948862-43062548	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv569238	chr15:42948862-43062548	Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv517553	chr15:42970899-43023482	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv984223	chr15:42981483-42984437	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Protein quantitative trait loci	18464913	GWAS catalog

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42908800-43015000	Weak transcription	Fetal Kidney	kidney
2	chr15:42949800-42999200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr15:42950400-42990200	Strong transcription	Fetal Stomach	stomach
4	chr15:42951000-42995000	Strong transcription	Fetal Muscle Trunk	muscle
5	chr15:42952600-42995600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr15:42952800-42996000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr15:42953400-42992200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:42954600-42986200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr15:42955000-42990200	Strong transcription	Fetal Muscle Leg	muscle
10	chr15:42961200-42989200	Strong transcription	Ovary	ovary
11	chr15:42961400-42990800	Strong transcription	Colon Smooth Muscle	Colon
12	chr15:42961600-42989200	Weak transcription	Pancreas	Pancrea
13	chr15:42966000-42992800	Strong transcription	Duodenum Smooth Muscle	Duodenum
14	chr15:42966400-42988400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr15:42966400-42988600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr15:42966600-42988000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr15:42966600-42989200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr15:42966800-42987600	Strong transcription	Aorta	Aorta
19	chr15:42968400-42992200	Weak transcription	Fetal Brain Male	brain
20	chr15:42968600-42996800	Weak transcription	Liver	Liver
21	chr15:42968600-42999000	Weak transcription	HUVEC	blood vessel
22	chr15:42969400-42988400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr15:42970600-42990200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr15:42970800-42986200	Strong transcription	Stomach Smooth Muscle	stomach
25	chr15:42971400-42992600	Strong transcription	Adipose Nuclei	Adipose
26	chr15:42971600-42992400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr15:42973200-42985600	Strong transcription	Rectal Smooth Muscle	rectum
28	chr15:42973200-42991200	Strong transcription	Brain Germinal Matrix	brain
29	chr15:42973400-42987600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr15:42973600-42988400	Strong transcription	Lung	lung
31	chr15:42973600-42989000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr15:42973600-42992600	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr15:42974400-42989200	Strong transcription	Left Ventricle	heart
34	chr15:42975600-43011400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr15:42976600-42984600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr15:42976600-42989000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr15:42976600-42990400	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr15:42976600-42992200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr15:42976600-42996800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr15:42976600-43015200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr15:42976800-42984600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr15:42977000-42999400	Weak transcription	HepG2	liver
43	chr15:42977000-43011600	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr15:42977000-43016600	Weak transcription	Hela-S3	cervix
45	chr15:42977600-42988000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr15:42978200-42989600	Weak transcription	Gastric	stomach
47	chr15:42978200-42989800	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr15:42978200-42996800	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr15:42978200-43010400	Weak transcription	Thymus	Thymus
50	chr15:42978400-42991000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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