Variant report

Variant	rs4924480
Chromosome Location	chr15:40825736-40825737
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40811570..40813776-chr15:40823296..40826811,3	K562	blood:
2	chr15:40818208..40820225-chr15:40824846..40826770,2	K562	blood:
3	chr15:40811763..40813776-chr15:40823296..40825931,2	K562	blood:
4	chr15:40688222..40690764-chr15:40824392..40826382,2	K562	blood:
5	chr15:40825263..40828833-chr15:40829678..40833530,4	K562	blood:

Extended variants
information (count: 77 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1037445	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10400890	0.82[EUR][1000 genomes]
rs11070275	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11070277	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11070282	0.81[EUR][1000 genomes]
rs11070285	0.82[EUR][1000 genomes]
rs11632061	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11632370	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11638742	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11639464	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11852670	0.82[EUR][1000 genomes]
rs11852694	0.82[EUR][1000 genomes]
rs11852828	0.82[EUR][1000 genomes]
rs11855334	0.82[EUR][1000 genomes]
rs11855923	0.82[EUR][1000 genomes]
rs11858113	0.82[EUR][1000 genomes]
rs12591207	0.81[EUR][1000 genomes]
rs12594548	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12595610	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12905162	0.82[EUR][1000 genomes]
rs12914743	0.81[EUR][1000 genomes]
rs12916042	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16970851	0.81[EUR][1000 genomes]
rs1806961	0.91[EUR][1000 genomes]
rs1811513	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1813898	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1869301	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1869302	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1967368	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1993212	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2034651	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2034652	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2167795	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2412531	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2412532	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2412534	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2444302	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2898996	0.81[EUR][1000 genomes]
rs2924386	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2924387	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2924388	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2959536	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959545	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3751652	0.81[EUR][1000 genomes]
rs3751653	0.81[EUR][1000 genomes]
rs4080706	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4923875	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4923876	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4924472	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4924478	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4924479	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4924481	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs588686	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs590046	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs603623	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs616937	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs618399	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs619711	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs620198	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6492951	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs654317	0.84[EUR][1000 genomes]
rs6582	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71471881	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7169621	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7178756	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7183273	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7494968	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8026605	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8029384	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8036737	0.83[EUR][1000 genomes]
rs8038407	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8041534	0.82[EUR][1000 genomes]
rs896795	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9652415	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs976401	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs4924480	C15orf57	cis	Esophagus Mucosa	GTEx
rs4924480	RP11-111A22.1	cis	lung	GTEx
rs4924480	C15orf57	cis	Muscle Skeletal	GTEx
rs4924480	CCDC32	Cis_1M	lymphoblastoid	RTeQTL
rs4924480	RP11-111A22.1	cis	Heart Left Ventricle	GTEx
rs4924480	C15orf57	cis	Heart Left Ventricle	GTEx
rs4924480	C15orf57	cis	Esophagus Muscularis	GTEx
rs4924480	C15orf57	cis	Adipose Subcutaneous	GTEx
rs4924480	ZFYVE19	Cis_1M	lymphoblastoid	RTeQTL
rs4924480	C15orf57	cis	Artery Tibial	GTEx
rs4924480	RP11-111A22.1	cis	Muscle Skeletal	GTEx
rs4924480	RP11-111A22.1	cis	Artery Tibial	GTEx
rs4924480	C15orf57	cis	lung	GTEx
rs4924480	RP11-111A22.1	cis	Nerve Tibial	GTEx
rs4924480	C15orf57	cis	Nerve Tibial	GTEx

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40805200-40828200	Weak transcription	Placenta	Placenta
2	chr15:40805200-40833000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:40812400-40828600	Weak transcription	Primary T cells from cord blood	blood
4	chr15:40812400-40828600	Weak transcription	Right Ventricle	heart
5	chr15:40812400-40828800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr15:40812400-40828800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr15:40812400-40829000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr15:40812400-40829000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr15:40812400-40831000	Weak transcription	Thymus	Thymus
10	chr15:40812400-40837800	Weak transcription	Lung	lung
11	chr15:40812600-40826000	Weak transcription	Adipose Nuclei	Adipose
12	chr15:40812600-40826400	Weak transcription	Primary B cells from peripheral blood	blood
13	chr15:40812600-40827000	Weak transcription	Spleen	Spleen
14	chr15:40812600-40831400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr15:40812600-40840600	Weak transcription	Hela-S3	cervix
16	chr15:40816600-40826200	Weak transcription	GM12878-XiMat	blood
17	chr15:40816800-40835000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr15:40816800-40845600	Weak transcription	Ovary	ovary
19	chr15:40818200-40828000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr15:40818400-40828200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr15:40819200-40831200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr15:40819400-40828000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr15:40819400-40830200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr15:40819400-40831200	Weak transcription	Gastric	stomach
25	chr15:40819600-40845000	Weak transcription	Pancreas	Pancrea
26	chr15:40820800-40833800	Weak transcription	K562	blood
27	chr15:40821000-40826800	Weak transcription	Primary B cells from cord blood	blood
28	chr15:40821200-40828800	Weak transcription	Fetal Intestine Small	intestine
29	chr15:40821400-40827800	Weak transcription	Fetal Stomach	stomach
30	chr15:40821400-40836800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr15:40821400-40848000	Weak transcription	Brain Anterior Caudate	brain
32	chr15:40821800-40826600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr15:40821800-40840400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr15:40821800-40856400	Weak transcription	Colon Smooth Muscle	Colon
35	chr15:40822600-40831400	Weak transcription	Aorta	Aorta
36	chr15:40822600-40856400	Weak transcription	Small Intestine	intestine
37	chr15:40822800-40831200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr15:40823200-40839600	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr15:40823800-40841800	Weak transcription	Brain Substantia Nigra	brain
40	chr15:40824800-40842600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr15:40825000-40836200	Weak transcription	Primary hematopoietic stem cells	blood
42	chr15:40825200-40826200	Strong transcription	Fetal Muscle Leg	muscle
43	chr15:40825200-40830400	Weak transcription	Brain Hippocampus Middle	brain
44	chr15:40825400-40830400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr15:40825600-40839400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr15:40825600-40840000	Weak transcription	Primary T helper cells PMA-I stimulated	--

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