Variant report

Variant	rs1813898
Chromosome Location	chr15:40848894-40848895
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	chr15:40838014..40841452-chr15:40845857..40849279,3	MCF-7	breast:
2	chr15:40848640..40851135-chr15:40883399..40886206,2	K562	blood:

Extended variants
information (count: 99 )
Associated
traits (count: 22 )

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs1037445	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10400890	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10400901	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10444817	0.86[EUR][1000 genomes]
rs11070275	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11070277	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11070282	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11070285	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11070286	0.88[EUR][1000 genomes]
rs11629711	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11632061	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11632370	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11638742	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11639464	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11852670	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11852694	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11852828	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11854986	0.89[EUR][1000 genomes]
rs11855334	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11855923	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11856802	0.89[EUR][1000 genomes]
rs11858113	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11858938	0.86[EUR][1000 genomes]
rs12591207	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12594548	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12595610	0.83[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	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12912635	0.88[EUR][1000 genomes]
rs12913697	0.86[EUR][1000 genomes]
rs12914743	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12916042	0.80[EUR][1000 genomes]
rs16970851	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1806961	0.81[EUR][1000 genomes]
rs1811513	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1869301	0.81[EUR][1000 genomes]
rs1869302	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1967368	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1993212	0.84[AMR][1000 genomes]
rs2034651	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2034652	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2167795	0.80[EUR][1000 genomes]
rs2412531	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2412532	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2412534	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2412544	0.87[EUR][1000 genomes]
rs2444302	0.84[EUR][1000 genomes]
rs2898996	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2924387	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2924388	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959536	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2959545	0.81[EUR][1000 genomes]
rs3092979	0.87[EUR][1000 genomes]
rs34845954	0.81[EUR][1000 genomes]
rs35047458	0.83[EUR][1000 genomes]
rs3751652	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3751653	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4080706	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4410047	0.86[EUR][1000 genomes]
rs4923875	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4923876	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924472	0.80[EUR][1000 genomes]
rs4924478	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4924479	0.82[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	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
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	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs620198	0.85[EUR][1000 genomes]
rs62019916	0.87[EUR][1000 genomes]
rs62019918	0.85[EUR][1000 genomes]
rs6492951	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6582	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71471881	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7169621	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7178756	0.84[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	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8026605	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8029384	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8034043	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8034048	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8036737	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8038407	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8041534	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs896795	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9652415	0.80[EUR][1000 genomes]
rs976401	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]

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:22)

SNP	Gene	Cis/trans	Tissue	Source
rs1813898	C15orf57	cis	Heart Left Ventricle	GTEx
rs1813898	C15orf57	cis	Adipose Subcutaneous	GTEx
rs1813898	ZFYVE19	Cis_1M	lymphoblastoid	RTeQTL
rs1813898	C15orf57	cis	Artery Tibial	GTEx
rs1813898	RP11-111A22.1	cis	Heart Left Ventricle	GTEx
rs1813898	RP11-111A22.1	cis	Muscle Skeletal	GTEx
rs1813898	RP11-111A22.1	cis	Artery Aorta	GTEx
rs1813898	C15orf57	cis	Nerve Tibial	GTEx
rs1813898	RP11-111A22.1	cis	Esophagus Muscularis	GTEx
rs1813898	C15orf57	cis	Muscle Skeletal	GTEx
rs1813898	C15orf57	cis	Skin Sun Exposed Lower leg	GTEx
rs1813898	C15orf57	cis	Artery Aorta	GTEx
rs1813898	CCDC32	Cis_1M	lymphoblastoid	RTeQTL
rs1813898	C15orf57	cis	Esophagus Muscularis	GTEx
rs1813898	C15orf57	cis	Esophagus Mucosa	GTEx
rs1813898	RP11-111A22.1	cis	lung	GTEx
rs1813898	C15orf57	cis	Thyroid	GTEx
rs1813898	C15orf57	cis	Stomach	GTEx
rs1813898	C15orf57	cis	lung	GTEx
rs1813898	RP11-111A22.1	cis	Nerve Tibial	GTEx
rs1813898	RP11-111A22.1	cis	Artery Tibial	GTEx
rs1813898	RP11-111A22.1	cis	Adipose Subcutaneous	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	chr15:40839200-40849000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr15:40839200-40849000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr15:40839200-40849600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr15:40839200-40850000	Strong transcription	Fetal Thymus	thymus
12	chr15:40839400-40849600	Strong transcription	HMEC	breast
13	chr15:40839400-40850000	Strong transcription	Fetal Intestine Large	intestine
14	chr15:40839600-40849800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr15:40840000-40856400	Weak transcription	Fetal Brain Female	brain
16	chr15:40840000-40856600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr15:40840400-40850600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr15:40842000-40849800	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr15:40842000-40849800	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr15:40842000-40849800	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr15:40842400-40849000	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr15:40842400-40856200	Weak transcription	Colonic Mucosa	Colon
23	chr15:40842600-40849400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr15:40843200-40856400	Weak transcription	Fetal Heart	heart
25	chr15:40843600-40849600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr15:40843600-40850000	Strong transcription	Osteobl	bone
27	chr15:40843800-40849000	Strong transcription	Liver	Liver
28	chr15:40843800-40850000	Strong transcription	Placenta	Placenta
29	chr15:40843800-40856400	Weak transcription	HSMMtube	muscle
30	chr15:40844800-40849400	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr15:40845000-40849600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr15:40845000-40849600	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr15:40845000-40849600	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr15:40845000-40849800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr15:40845200-40849400	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr15:40845200-40849600	Strong transcription	Primary T cells from cord blood	blood
37	chr15:40845200-40849600	Strong transcription	NHEK	skin
38	chr15:40845400-40849400	Strong transcription	Brain Inferior Temporal Lobe	brain
39	chr15:40845600-40850600	Genic enhancers	K562	blood
40	chr15:40845800-40849600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr15:40846000-40855600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr15:40846200-40850800	Weak transcription	Pancreas	Pancrea
43	chr15:40846200-40851000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr15:40846200-40855000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr15:40846200-40856200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr15:40846400-40849200	Weak transcription	Fetal Kidney	kidney
47	chr15:40846400-40853400	Weak transcription	Thymus	Thymus
48	chr15:40846600-40849000	Strong transcription	Fetal Muscle Trunk	muscle
49	chr15:40846600-40849800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr15:40846600-40849800	Strong transcription	Fetal Muscle Leg	muscle

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