Variant report

Variant	rs60380503
Chromosome Location	chr15:42841707-42841708
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:42840210-42841800	Hela-S3	cervix:	n/a	n/a
2	GATA1	chr15:42840433-42842436	PBDE	blood:	n/a	chr15:42841996-42842012 chr15:42841999-42842008 chr15:42842001-42842008 chr15:42842001-42842008 chr15:42841994-42842015 chr15:42842001-42842011 chr15:42842001-42842008
3	POLR2A	chr15:42840235-42841744	K562	blood:	n/a	n/a
4	REST	chr15:42840270-42841799	H1-neurons	neurons:	n/a	chr15:42840714-42840727 chr15:42841575-42841588
5	POLR2A	chr15:42840237-42841853	Hela-S3	cervix:	n/a	n/a
6	YY1	chr15:42840625-42841722	H1-hESC	embryonic stem cell:	n/a	n/a
7	MXI1	chr15:42839987-42841777	IMR90	lung:	n/a	n/a
8	ELF1	chr15:42840787-42841738	K562	blood:	n/a	n/a
9	MXI1	chr15:42839938-42841789	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr15:42840243-42841886	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:42786881..42789392-chr15:42840485..42842780,2	K562	blood:
2	chr15:42781742..42786032-chr15:42840388..42842565,4	K562	blood:
3	chr15:42565305..42567163-chr15:42839364..42842481,3	K562	blood:
4	chr15:42498784..42500561-chr15:42840086..42841928,2	K562	blood:
5	chr15:42841157..42842930-chr15:42866343..42868904,2	MCF-7	breast:
6	chr15:42840090..42842755-chr15:42865653..42870684,5	K562	blood:
7	chr15:42838345..42842657-chr15:42865696..42868936,4	MCF-7	breast:
8	chr15:42837304..42838910-chr15:42839465..42842272,2	MCF-7	breast:
9	chr15:42783961..42786032-chr15:42840679..42842565,2	K562	blood:
10	chr15:41522531..41524126-chr15:42840731..42842443,2	K562	blood:

Variant related genes	Relation type
LRRC57	TF binding region
ENSG00000159433	Chromatin interaction
ENSG00000187446	Chromatin interaction
ENSG00000214013	Chromatin interaction
ENSG00000103994	Chromatin interaction
ENSG00000178997	Chromatin interaction
ENSG00000166887	Chromatin interaction
ENSG00000180979	Chromatin interaction
ENSG00000103978	Chromatin interaction
ENSG00000092531	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10454039	0.87[EUR][1000 genomes]
rs10518766	1.00[ASN][1000 genomes]
rs1060291	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1060293	1.00[ASN][1000 genomes]
rs10851410	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10851411	0.87[EUR][1000 genomes]
rs11022	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11070374	0.88[EUR][1000 genomes]
rs11070376	1.00[ASN][1000 genomes]
rs11631193	0.87[EUR][1000 genomes]
rs11636577	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11638208	0.82[EUR][1000 genomes]
rs12324113	0.89[EUR][1000 genomes]
rs12324717	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12903432	0.92[EUR][1000 genomes]
rs12906697	0.87[EUR][1000 genomes]
rs16973320	1.00[ASN][1000 genomes]
rs17709180	1.00[ASN][1000 genomes]
rs17709377	1.00[ASN][1000 genomes]
rs17766532	1.00[ASN][1000 genomes]
rs1900921	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2241998	0.87[EUR][1000 genomes]
rs2255995	0.91[EUR][1000 genomes]
rs2595939	0.92[EUR][1000 genomes]
rs2595940	0.92[EUR][1000 genomes]
rs2595941	0.90[EUR][1000 genomes]
rs2617236	0.89[EUR][1000 genomes]
rs28886308	0.80[EUR][1000 genomes]
rs2899051	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2899057	0.85[EUR][1000 genomes]
rs34359922	1.00[ASN][1000 genomes]
rs34643746	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34792942	1.00[ASN][1000 genomes]
rs3986280	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4573906	0.92[EUR][1000 genomes]
rs4923948	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924684	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924687	1.00[ASN][1000 genomes]
rs56357092	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56982416	1.00[ASN][1000 genomes]
rs58042601	1.00[ASN][1000 genomes]
rs58641431	1.00[ASN][1000 genomes]
rs59697584	1.00[ASN][1000 genomes]
rs59705032	1.00[ASN][1000 genomes]
rs60584955	1.00[ASN][1000 genomes]
rs60812675	1.00[ASN][1000 genomes]
rs61489160	1.00[ASN][1000 genomes]
rs62022317	1.00[ASN][1000 genomes]
rs7180483	1.00[ASN][1000 genomes]
rs73402783	1.00[ASN][1000 genomes]
rs73402785	1.00[ASN][1000 genomes]
rs73404714	1.00[ASN][1000 genomes]
rs73404723	1.00[ASN][1000 genomes]
rs73404730	1.00[ASN][1000 genomes]
rs73404763	1.00[ASN][1000 genomes]
rs73406518	1.00[ASN][1000 genomes]
rs73406534	1.00[ASN][1000 genomes]
rs73406545	1.00[ASN][1000 genomes]
rs74009095	1.00[ASN][1000 genomes]
rs8033412	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9302112	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs60380503	CEP27	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42839400-42842000	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr15:42839400-42842200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr15:42839600-42842000	Active TSS	Right Ventricle	heart
4	chr15:42839600-42842600	Active TSS	GM12878-XiMat	blood
5	chr15:42839800-42842000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr15:42839800-42842000	Active TSS	Brain Angular Gyrus	brain
7	chr15:42839800-42842000	Active TSS	Fetal Kidney	kidney
8	chr15:42839800-42842200	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr15:42839800-42842200	Active TSS	A549	lung
10	chr15:42839800-42842400	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr15:42839800-42842800	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr15:42840000-42841800	Active TSS	Ovary	ovary
13	chr15:42840000-42842000	Active TSS	H9 Cell Line	embryonic stem cell
14	chr15:42840000-42842000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr15:42840000-42842000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr15:42840000-42842000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr15:42840000-42842000	Active TSS	Fetal Intestine Large	intestine
18	chr15:42840000-42842000	Active TSS	Fetal Intestine Small	intestine
19	chr15:42840000-42842000	Active TSS	NHDF-Ad	bronchial
20	chr15:42840000-42842200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr15:42840000-42842200	Active TSS	Fetal Muscle Trunk	muscle
22	chr15:42840000-42842400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr15:42840000-42842400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr15:42840000-42842400	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr15:42840000-42842400	Active TSS	HSMMtube	muscle
26	chr15:42840000-42842600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr15:42840200-42841800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr15:42840200-42841800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr15:42840200-42842000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr15:42840200-42842000	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr15:42840200-42842000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr15:42840200-42842000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr15:42840200-42842000	Active TSS	Muscle Satellite Cultured Cells	--
34	chr15:42840200-42842000	Active TSS	Brain Anterior Caudate	brain
35	chr15:42840200-42842000	Active TSS	Brain Hippocampus Middle	brain
36	chr15:42840200-42842000	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr15:42840200-42842000	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr15:42840200-42842000	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr15:42840200-42842000	Active TSS	Fetal Lung	lung
40	chr15:42840200-42842000	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr15:42840200-42842000	Active TSS	HMEC	breast
42	chr15:42840200-42842000	Active TSS	K562	blood
43	chr15:42840200-42842000	Active TSS	NHEK	skin
44	chr15:42840200-42842000	Active TSS	Osteobl	bone
45	chr15:42840200-42842200	Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr15:42840200-42842200	Active TSS	Psoas Muscle	Psoas
47	chr15:42840200-42842400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr15:42840200-42842400	Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr15:42840200-42842400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr15:42840200-42842400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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