Variant report

Variant	rs8029384
Chromosome Location	chr15:40849680-40849681
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40848640..40851135-chr15:40883399..40886206,2	K562	blood:

Extended variants
information (count: 116 )
Associated
traits (count: 30 )

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs1037445	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10400890	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10400901	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10444817	0.86[EUR][1000 genomes]
rs10467972	0.83[CHB][hapmap];0.80[JPT][hapmap]
rs11070275	0.96[CEU][hapmap];0.82[CHB][hapmap];0.80[EUR][1000 genomes]
rs11070277	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11070282	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11070285	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11070286	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs11629711	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11632061	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11632370	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11638742	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11639464	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11852670	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11852694	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11852828	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11854986	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs11855334	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11855923	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11856438	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap]
rs11856802	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs11858113	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11858938	0.86[EUR][1000 genomes]
rs12591207	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12594548	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12595610	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12902568	0.83[EUR][1000 genomes]
rs12904801	0.81[EUR][1000 genomes]
rs12905162	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12912058	0.81[JPT][hapmap]
rs12912635	0.88[EUR][1000 genomes]
rs12913697	0.86[EUR][1000 genomes]
rs12914743	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12916042	0.80[EUR][1000 genomes]
rs16970851	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1806961	0.81[EUR][1000 genomes]
rs1811513	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1813898	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1869301	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs1869302	0.92[CEU][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1967368	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1993212	0.83[AMR][1000 genomes]
rs2034651	0.92[CEU][hapmap];0.82[CHB][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2034652	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2167795	0.80[EUR][1000 genomes]
rs2278888	0.83[CHB][hapmap];0.80[JPT][hapmap]
rs2412531	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2412532	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2412534	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2412541	0.80[JPT][hapmap]
rs2412544	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs2444302	0.92[CEU][hapmap];0.82[CHB][hapmap];0.84[EUR][1000 genomes]
rs2898996	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2924387	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2924388	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959536	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2959545	0.81[EUR][1000 genomes]
rs3092978	0.80[JPT][hapmap]
rs3092979	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs34845954	0.81[EUR][1000 genomes]
rs35047458	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs3751652	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3751653	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4080706	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4410047	0.86[EUR][1000 genomes]
rs4923875	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4923876	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924472	0.92[CEU][hapmap];0.81[CHB][hapmap];0.80[EUR][1000 genomes]
rs4924478	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4924479	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4924480	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4924481	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924488	0.82[JPT][hapmap]
rs588686	0.84[EUR][1000 genomes]
rs590046	0.83[EUR][1000 genomes]
rs603623	0.85[EUR][1000 genomes]
rs616937	0.84[EUR][1000 genomes]
rs618399	0.85[EUR][1000 genomes]
rs619711	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs620198	0.85[EUR][1000 genomes]
rs62019916	0.87[EUR][1000 genomes]
rs62019918	0.85[EUR][1000 genomes]
rs6492947	0.88[CEU][hapmap]
rs6492951	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6582	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71471881	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7167417	0.80[JPT][hapmap]
rs7169621	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7171260	0.80[JPT][hapmap]
rs7177192	0.81[JPT][hapmap]
rs7178756	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7181074	0.89[EUR][1000 genomes]
rs7182530	0.81[EUR][1000 genomes]
rs7183790	0.86[EUR][1000 genomes]
rs7494968	0.96[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8026605	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8028999	0.83[CHB][hapmap];0.80[JPT][hapmap]
rs8034043	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8034048	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8035775	0.81[JPT][hapmap]
rs8036737	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8037804	0.82[JPT][hapmap]
rs8038407	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8040502	0.81[JPT][hapmap]
rs8041534	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8042729	0.83[CHB][hapmap];0.84[JPT][hapmap]
rs896795	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9652415	0.80[EUR][1000 genomes]
rs976401	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9806410	0.80[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv832984	chr15:40794391-40998535	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	esv2758378	chr15:40832545-40995111	Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2760026	chr15:40832545-40995111	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

mRNA abundance (count:30)

SNP	Gene	Cis/trans	Tissue	Source
rs8029384	C15orf57	cis	Heart Left Ventricle	GTEx
rs8029384	RP11-111A22.1	cis	Muscle Skeletal	GTEx
rs8029384	C15orf57	cis	Nerve Tibial	GTEx
rs8029384	C15orf57	cis	Thyroid	GTEx
rs8029384	C15orf57	cis	Cerebellum	GTEx
rs8029384	CCDC32	cis	multi-tissue	Pritchard
rs8029384	CCDC32	cis	lesional skin	skin_eQTL
rs8029384	C15orf57	cis	Esophagus Mucosa	GTEx
rs8029384	C15orf57	cis	Adipose Subcutaneous	GTEx
rs8029384	RP11-111A22.1	cis	Nerve Tibial	GTEx
rs8029384	RP11-111A22.1	cis	Artery Aorta	GTEx
rs8029384	C15orf57	cis	lung	GTEx
rs8029384	ZFYVE19	cis	multi-tissue	Pritchard
rs8029384	C15orf57	cis	Stomach	GTEx
rs8029384	C15orf57	cis	Skin Sun Exposed Lower leg	GTEx
rs8029384	C15orf57	cis	Artery Tibial	GTEx
rs8029384	RP11-111A22.1	cis	Esophagus Muscularis	GTEx
rs8029384	ENSG00000128891	cis	multi-tissue	Pritchard
rs8029384	C15orf57	cis	Artery Aorta	GTEx
rs8029384	RP11-111A22.1	cis	Artery Tibial	GTEx
rs8029384	RP11-111A22.1	cis	lung	GTEx
rs8029384	RP11-111A22.1	cis	Heart Left Ventricle	GTEx
rs8029384	C15orf57	cis	Esophagus Muscularis	GTEx
rs8029384	C15orf57	cis	Lymphoblastoid	GTEx
rs8029384	CCDC32	Cis_1M	lymphoblastoid	RTeQTL
rs8029384	RP11-111A22.1	cis	Adipose Subcutaneous	GTEx
rs8029384	CCDC32	cis	normal skin	skin_eQTL
rs8029384	C15orf57	cis	multi-tissue	Pritchard
rs8029384	ZFYVE19	Cis_1M	lymphoblastoid	RTeQTL
rs8029384	C15orf57	cis	Muscle Skeletal	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40821800-40856400	Weak transcription	Colon Smooth Muscle	Colon
2	chr15:40822600-40856400	Weak transcription	Small Intestine	intestine
3	chr15:40828000-40856600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr15:40831600-40856600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:40838000-40856400	Weak transcription	A549	lung
6	chr15:40838600-40852800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr15:40838600-40855600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr15:40839200-40850000	Strong transcription	Fetal Thymus	thymus
9	chr15:40839400-40850000	Strong transcription	Fetal Intestine Large	intestine
10	chr15:40839600-40849800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr15:40840000-40856400	Weak transcription	Fetal Brain Female	brain
12	chr15:40840000-40856600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr15:40840400-40850600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr15:40842000-40849800	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr15:40842000-40849800	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr15:40842000-40849800	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr15:40842400-40856200	Weak transcription	Colonic Mucosa	Colon
18	chr15:40843200-40856400	Weak transcription	Fetal Heart	heart
19	chr15:40843600-40850000	Strong transcription	Osteobl	bone
20	chr15:40843800-40850000	Strong transcription	Placenta	Placenta
21	chr15:40843800-40856400	Weak transcription	HSMMtube	muscle
22	chr15:40845000-40849800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr15:40845600-40850600	Genic enhancers	K562	blood
24	chr15:40846000-40855600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr15:40846200-40850800	Weak transcription	Pancreas	Pancrea
26	chr15:40846200-40851000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr15:40846200-40855000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr15:40846200-40856200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr15:40846400-40853400	Weak transcription	Thymus	Thymus
30	chr15:40846600-40849800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr15:40846600-40849800	Strong transcription	Fetal Muscle Leg	muscle
32	chr15:40846600-40851200	Weak transcription	Fetal Stomach	stomach
33	chr15:40846600-40853800	Weak transcription	Spleen	Spleen
34	chr15:40846600-40855000	Weak transcription	Psoas Muscle	Psoas
35	chr15:40846600-40855800	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr15:40846600-40856400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr15:40846600-40856400	Weak transcription	Right Atrium	heart
38	chr15:40846600-40856600	Weak transcription	Aorta	Aorta
39	chr15:40846600-40856600	Weak transcription	Gastric	stomach
40	chr15:40846800-40856000	Weak transcription	Stomach Mucosa	stomach
41	chr15:40847000-40851200	Weak transcription	Left Ventricle	heart
42	chr15:40847200-40855000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr15:40847200-40855600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr15:40847200-40856400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr15:40847400-40850200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr15:40847400-40855000	Weak transcription	Fetal Brain Male	brain
47	chr15:40847400-40856200	Weak transcription	Brain Germinal Matrix	brain
48	chr15:40847400-40856400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr15:40847400-40856600	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr15:40847600-40850200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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