Variant report

Variant	nsv976949
Chromosome Location	chr15:72737860-72743854
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:72740060-72740210	GM12866	blood:	n/a	n/a
2	GATA3	chr15:72737876-72738023	SH-SY5Y	brain:	n/a	n/a
3	MAFF	chr15:72738300-72738590	HepG2	liver:	n/a	n/a
4	MAFK	chr15:72738283-72738609	HepG2	liver:	n/a	n/a
5	MAFK	chr15:72738364-72738535	IMR90	lung:	n/a	n/a
6	MAFK	chr15:72738312-72738499	HepG2	liver:	n/a	n/a
7	MAX	chr15:72743766-72743881	HepG2	liver:	n/a	n/a
8	MYC	chr15:72743641-72743780	MCF-7	breast:	n/a	chr15:72743752-72743763 chr15:72743753-72743763 chr15:72743754-72743761 chr15:72743753-72743762 chr15:72743751-72743764 chr15:72743752-72743763 chr15:72743753-72743762
9	POLR2A	chr15:72741849-72741953	GM12878	blood:	n/a	n/a
10	POLR2A	chr15:72743620-72743826	MCF-7	breast:	n/a	n/a
11	USF1	chr15:72743640-72743844	HepG2	liver:	n/a	n/a
12	USF2	chr15:72743742-72743822	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:72742016-72742066	HCT-116	colon:	n/a
2	chr15:72742016-72742066	SK-N-SH_RA	brain:	n/a
3	chr15:72742016-72742066	GM06990	blood:	n/a
4	chr15:72742016-72742066	NHBE	bronchial:	n/a
5	chr15:72742016-72742066	RPTEC	kidney:	n/a
6	chr15:72742016-72742066	HepG2	liver:	n/a
7	chr15:72742016-72742066	AoSMC	blood vessel:	n/a
8	chr15:72742016-72742066	NH-A	brain:	n/a
9	chr15:72742016-72742066	AG09319	gingival:	n/a
10	chr15:72742016-72742066	PrEC	prostate:	n/a
11	chr15:72742016-72742066	PFSK-1	brain:	n/a
12	chr15:72742016-72742066	HCPEpiC	choroid plexus:	n/a
13	chr15:72742016-72742066	K562	blood:	n/a
14	chr15:72742016-72742066	AG04449	skin:	fetal
15	chr15:72742016-72742066	GM12892	blood:	n/a
16	chr15:72742016-72742066	HRCEpiC	kidney:	n/a
17	chr15:72742016-72742066	BJ	skin:	n/a
18	chr15:72742016-72742066	HL-60	blood:	n/a
19	chr15:72742016-72742066	SAEC	small airway:	n/a
20	chr15:72742016-72742066	ECC-1	luminal epithelium:	n/a
21	chr15:72742016-72742066	SK-N-SH	brain:	n/a
22	chr15:72742016-72742066	GM19239	blood:	n/a
23	chr15:72742016-72742066	AG10803	skin:	n/a
24	chr15:72742016-72742066	HIPEpiC	eye:	n/a
25	chr15:72742016-72742066	LNCaP	prostate:	n/a
26	chr15:72742016-72742066	HAEpiC	amniotic membrane:	n/a
27	chr15:72742016-72742066	GM12891	blood:	n/a
28	chr15:72742016-72742066	NT2-D1	testis:	n/a
29	chr15:72742016-72742066	HNPCEpiC	eye:	n/a
30	chr15:72742016-72742066	HUVEC	blood vessel:	n/a
31	chr15:72742016-72742066	CMK	blood:	n/a
32	chr15:72742016-72742066	SK-N-MC	brain:	n/a
33	chr15:72742016-72742066	HEEpiC	esophagus:	n/a
34	chr15:72742016-72742066	T-47D	breast:	n/a
35	chr15:72742016-72742066	Hela-S3	cervix:	n/a
36	chr15:72742016-72742066	Jurkat	blood:	n/a
37	chr15:72742016-72742066	MCF-7	breast:	n/a
38	chr15:72742016-72742066	U87	brain:	n/a
39	chr15:72742016-72742066	HEK293	kidney:	embryo
40	chr15:72742016-72742066	HRE	kidney:	n/a
41	chr15:72742016-72742066	H1-hESC	embryonic stem cell:	embryo
42	chr15:72742016-72742066	NB4	blood:	n/a
43	chr15:72742016-72742066	ovcar-3	ovarian:	n/a
44	chr15:72742016-72742066	HRPEpiC	eye:	n/a
45	chr15:72742016-72742066	ProgFib	skin:	n/a
46	chr15:72742016-72742066	A549	lung:	n/a
47	chr15:72742016-72742066	Hepatocyte	liver:	n/a
48	chr15:72742016-72742066	HCF	heart:	n/a
49	chr15:72742016-72742066	HMEC	breast:	n/a
50	chr15:72742016-72742066	BE2_C	brain:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:72739851..72741610-chr15:72765220..72767189,3	K562	blood:
2	chr15:72739851..72741495-chr15:72765220..72766981,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000271072	TF binding region
ENSG00000271072	CpG island
ENSG00000261423	chromatin interactions
ENSG00000166233	chromatin interactions

Extended variants
information (count: 95 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2415137	chr15:72738293-72738294	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs191609083	chr15:72738327-72738328	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs550992980	chr15:72738358-72738359	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs562975867	chr15:72738370-72738371	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs11854010	chr15:72738371-72738372	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs529846841	chr15:72738416-72738417	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs551701218	chr15:72738463-72738464	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs57694251	chr15:72738467-72738468	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs2415136	chr15:72738565-72738566	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs73442595	chr15:72739885-72739886	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs187059001	chr15:72739954-72739955	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs189555462	chr15:72739966-72739967	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs180984452	chr15:72739972-72739973	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs538756111	chr15:72739990-72739991	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs527742543	chr15:72739991-72739992	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs542827742	chr15:72740012-72740013	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs563850917	chr15:72740016-72740017	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs376312870	chr15:72740017-72740018	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs561118733	chr15:72740051-72740052	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs558953557	chr15:72740076-72740077	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs34308944	chr15:72740078-72740079	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs185253561	chr15:72740114-72740115	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs571839983	chr15:72740132-72740133	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs532992454	chr15:72740139-72740140	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs551045045	chr15:72740159-72740160	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs566574187	chr15:72740167-72740168	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs190410279	chr15:72740172-72740173	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs554329673	chr15:72740217-72740218	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs541751794	chr15:72740243-72740244	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs567500708	chr15:72740266-72740267	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs376254142	chr15:72740287-72740288	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs182674820	chr15:72740310-72740311	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs556542799	chr15:72740331-72740332	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs577813005	chr15:72740334-72740335	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs28810475	chr15:72740387-72740388	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs12594896	chr15:72740400-72740401	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs114090200	chr15:72740406-72740407	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs554219873	chr15:72740414-72740415	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs35833528	chr15:72740565-72740566	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs56180024	chr15:72740566-72740567	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs199668299	chr15:72740580-72740581	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs536587891	chr15:72740672-72740673	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs145434760	chr15:72740677-72740678	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs542741673	chr15:72740701-72740702	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs142594092	chr15:72740702-72740703	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs531827521	chr15:72740749-72740750	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs543607899	chr15:72740793-72740794	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs35239158	chr15:72740834-72740835	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs191415961	chr15:72740852-72740853	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs184109660	chr15:72740911-72740912	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Prostate cancer	16573809	CNVD
Autism	17322880	CNVD
Autism	20678247	CNVD
Retinoblastoma	21504564	CNVD
Matthew-Wood syndrome	21085971	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Urothelial cell carcinoma	18451213	CNVD
phobic disorder	16773131	CNVD
Autism	21480499	CNVD
Disorders of sex development	22290220	CNVD
Mental retardation	19951919	CNVD
Mental retardation	16773131	CNVD
T-cell lymphomas	19863542	CNVD
15q24 microdeletion syndrome	22180641	CNVD
15q24 microdeletion syndrome	19921647	CNVD
Disease	22216833	CNVD
Mental retardation	17360722	CNVD
15q24 microdeletion syndrome	22216833	CNVD
15q24 microdeletion syndrome	22283845	CNVD
Developmental delay	17932688	CNVD
craniofacial dysmorphism	17932688	CNVD
digital and genital abnormalities	17932688	CNVD
Mental retardation	17621639	CNVD
Autism	20808228	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Epilepsy	22083797	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72743000-72743200	Enhancers	HepG2	liver
2	chr15:72743200-72743400	Flanking Active TSS	HepG2	liver
3	chr15:72743200-72743600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr15:72743200-72743800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr15:72743400-72743600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr15:72743400-72744000	Flanking Bivalent TSS/Enh	HepG2	liver
7	chr15:72743600-72743800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr15:72743600-72743800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr15:72743600-72743800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr15:72743800-72744000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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