Variant report

Variant	rs10518697
Chromosome Location	chr15:40910668-40910669
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40908832..40911175-chr15:40913134..40914934,3	K562	blood:
2	chr15:40885068..40886877-chr15:40909760..40911872,2	K562	blood:
3	chr15:40910598..40912203-chr15:40918689..40920443,2	K562	blood:
4	chr15:40910551..40912670-chr15:40914146..40915843,2	K562	blood:

Variant related genes	Relation type
ENSG00000137812	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 27 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10152546	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs1044474	0.96[CEU][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs1058734	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs11070283	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11630273	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11633184	0.93[EUR][1000 genomes]
rs11637245	0.89[EUR][1000 genomes]
rs11637422	0.92[EUR][1000 genomes]
rs12148915	0.88[ASW][hapmap];0.92[CEU][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.87[TSI][hapmap];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12324748	0.93[EUR][1000 genomes]
rs12385982	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12441754	0.89[EUR][1000 genomes]
rs12442560	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12591044	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12592524	0.92[CEU][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.89[ASN][1000 genomes]
rs12903817	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12907442	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12908316	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12913296	0.90[EUR][1000 genomes]
rs12913739	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12915171	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs12915636	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13329076	0.84[EUR][1000 genomes]
rs17673703	1.00[CEU][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs17674454	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17747423	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17747633	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1801321	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1814541	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1814542	0.81[EUR][1000 genomes]
rs2412525	0.92[EUR][1000 genomes]
rs2619682	0.85[ASN][1000 genomes]
rs28529389	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28634695	0.90[EUR][1000 genomes]
rs28647196	0.82[EUR][1000 genomes]
rs28669075	0.90[EUR][1000 genomes]
rs28866515	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs28891195	0.83[AMR][1000 genomes]
rs34305357	0.89[ASN][1000 genomes]
rs34739056	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34824658	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35127391	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35684277	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35842610	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4923880	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4924486	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4924492	0.87[ASN][1000 genomes]
rs4924496	0.92[CEU][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4924502	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs5030789	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs59244061	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs62019876	0.93[EUR][1000 genomes]
rs62019879	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6492964	0.85[CEU][hapmap];0.93[MEX][hapmap];0.85[TSI][hapmap]
rs71471880	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7165509	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7170288	0.92[EUR][1000 genomes]
rs7175747	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7176245	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7176590	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7177265	0.88[ASW][hapmap];0.92[CEU][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.87[TSI][hapmap];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7180135	0.92[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7182499	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs8029530	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8036891	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8037180	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8038122	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8042386	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs957603	0.94[ASW][hapmap];0.92[CEU][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.81[TSI][hapmap];0.96[YRI][hapmap];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9920642	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9920676	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	esv1843830	chr15:40902453-40915045	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv1841263	chr15:40902453-40966765	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:27)

SNP	Gene	Cis/trans	Tissue	Source
rs10518697	CCDC32	cis	multi-tissue	Pritchard
rs10518697	C15orf57	cis	cerebellum	SCAN
rs10518697	MAPKBP1	cis	cerebellum	SCAN
rs10518697	RP11-111A22.1	cis	lung	GTEx
rs10518697	C15orf57	cis	Nerve Tibial	GTEx
rs10518697	CCDC32	cis	lesional skin	skin_eQTL
rs10518697	RP11-111A22.1	cis	Heart Left Ventricle	GTEx
rs10518697	C15orf57	cis	Artery Aorta	GTEx
rs10518697	RP11-111A22.1	cis	Adipose Subcutaneous	GTEx
rs10518697	C15orf57	cis	Esophagus Mucosa	GTEx
rs10518697	CCDC32	cis	normal skin	skin_eQTL
rs10518697	C15orf57	cis	Adipose Subcutaneous	GTEx
rs10518697	C15orf57	cis	lymphoblastoid	seeQTL
rs10518697	C15orf57	cis	Skin Sun Exposed Lower leg	GTEx
rs10518697	MRPL42P5	cis	multi-tissue	Pritchard
rs10518697	C15orf57	cis	Heart Left Ventricle	GTEx
rs10518697	C15orf57	cis	Esophagus Muscularis	GTEx
rs10518697	C15orf57	cis	Artery Tibial	GTEx
rs10518697	MRPL42P5	cis	lymphoblastoid	seeQTL
rs10518697	RP11-111A22.1	cis	Artery Tibial	GTEx
rs10518697	C15orf57	cis	Muscle Skeletal	GTEx
rs10518697	C15orf57	cis	Stomach	GTEx
rs10518697	CCDC32	cis	uninvolved skin	skin_eQTL
rs10518697	C15orf57	cis	parietal	SCAN
rs10518697	C15orf57	cis	lung	GTEx
rs10518697	RAD51	cis	multi-tissue	Pritchard
rs10518697	RP11-111A22.1	cis	Artery Aorta	GTEx

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40887600-40941800	Weak transcription	Fetal Intestine Large	intestine
2	chr15:40887800-40933200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr15:40887800-40942200	Weak transcription	Primary B cells from cord blood	blood
4	chr15:40887800-40948200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr15:40887800-40961600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr15:40888000-40956000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr15:40888200-40912800	Weak transcription	HMEC	breast
8	chr15:40888400-40913200	Weak transcription	NHDF-Ad	bronchial
9	chr15:40888400-40913600	Weak transcription	NHLF	lung
10	chr15:40888400-40923200	Weak transcription	Osteobl	bone
11	chr15:40888400-40925800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr15:40888400-40944200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr15:40890800-40925200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr15:40893600-40922600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr15:40897800-40957200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr15:40899400-40922600	Weak transcription	Fetal Intestine Small	intestine
17	chr15:40899600-40911600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr15:40899600-40911800	Weak transcription	Fetal Muscle Leg	muscle
19	chr15:40899600-40913200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr15:40900000-40943600	Weak transcription	NH-A	brain
21	chr15:40900200-40912800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr15:40900400-40913200	Weak transcription	NHEK	skin
23	chr15:40900600-40912800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr15:40902000-40911200	Weak transcription	HepG2	liver
25	chr15:40902200-40920400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr15:40902400-40911000	Weak transcription	HSMM	muscle
27	chr15:40902600-40911000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr15:40902800-40911800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr15:40902800-40913000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr15:40903000-40913000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr15:40903000-40922200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr15:40903000-40956000	Weak transcription	Fetal Heart	heart
33	chr15:40903200-40911600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr15:40903200-40912800	Weak transcription	HUVEC	blood vessel
35	chr15:40903600-40911000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr15:40903600-40912800	Weak transcription	GM12878-XiMat	blood
37	chr15:40903600-40913200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr15:40903600-40922600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr15:40903600-40927800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr15:40903600-40956600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr15:40903800-40955800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr15:40903800-40956600	Weak transcription	Fetal Lung	lung
43	chr15:40904400-40911600	Weak transcription	Fetal Stomach	stomach
44	chr15:40904800-40927800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr15:40905200-40911200	Weak transcription	Thymus	Thymus
46	chr15:40905600-40912800	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr15:40906400-40930200	Strong transcription	Dnd41	blood
48	chr15:40907000-40912800	Weak transcription	A549	lung
49	chr15:40907200-40911800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr15:40907800-40911000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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