Variant report

Variant	nsv904285
Chromosome Location	chr15:62146598-62246864
allele	n/a
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	ARID3A	chr15:62164156-62164420	K562	blood:	n/a	n/a
2	ARID3A	chr15:62164169-62164478	HepG2	liver:	n/a	n/a
3	ARID3A	chr15:62180335-62180383	K562	blood:	n/a	n/a
4	ARID3A	chr15:62171569-62171652	HepG2	liver:	n/a	n/a
5	ARID3A	chr15:62199453-62200154	HepG2	liver:	n/a	n/a
6	BACH1	chr15:62234203-62234206	K562	blood:	n/a	n/a
7	BRCA1	chr15:62164191-62164533	Hela-S3	cervix:	n/a	n/a
8	CBX3	chr15:62185381-62185684	K562	blood:	n/a	n/a
9	CEBPB	chr15:62180336-62180636	A549	lung:	n/a	chr15:62180454-62180465
10	CEBPB	chr15:62227818-62228070	A549	lung:	n/a	chr15:62227893-62227904
11	CEBPB	chr15:62239060-62239292	IMR90	lung:	n/a	n/a
12	CEBPB	chr15:62180373-62180630	K562	blood:	n/a	chr15:62180454-62180465
13	CEBPB	chr15:62182374-62182601	A549	lung:	n/a	n/a
14	CEBPB	chr15:62199668-62200070	HepG2	liver:	n/a	n/a
15	CEBPB	chr15:62171161-62171355	HepG2	liver:	n/a	chr15:62171168-62171181
16	CEBPB	chr15:62225483-62225689	K562	blood:	n/a	chr15:62225584-62225597 chr15:62225586-62225597 chr15:62225531-62225544 chr15:62225584-62225597 chr15:62225584-62225597 chr15:62225586-62225597
17	CEBPB	chr15:62180307-62180564	HepG2	liver:	n/a	chr15:62180454-62180465
18	CEBPB	chr15:62232985-62233209	HepG2	liver:	n/a	n/a
19	CEBPB	chr15:62180357-62180498	H1-hESC	embryonic stem cell:	n/a	chr15:62180454-62180465
20	CEBPB	chr15:62180324-62180597	Hela-S3	cervix:	n/a	chr15:62180454-62180465
21	CEBPB	chr15:62197996-62198309	HepG2	liver:	n/a	n/a
22	CEBPB	chr15:62227747-62228056	Hela-S3	cervix:	n/a	chr15:62227893-62227904
23	CEBPB	chr15:62180280-62180649	IMR90	lung:	n/a	chr15:62180454-62180465
24	CEBPB	chr15:62227701-62228189	K562	blood:	n/a	chr15:62227893-62227904
25	CHD1	chr15:62163340-62163388	GM12878	blood:	n/a	n/a
26	CHD2	chr15:62221823-62221825	GM12878	blood:	n/a	n/a
27	CTCF	chr15:62164200-62164350	HRPEpiC	eye:	n/a	chr15:62164293-62164314 chr15:62164291-62164309
28	CTCF	chr15:62148600-62148750	GM12872	blood:	n/a	n/a
29	CTCF	chr15:62148700-62148850	BE2_C	brain:	n/a	n/a
30	CTCF	chr15:62164200-62164350	AoAF	blood vessel:	n/a	chr15:62164293-62164314 chr15:62164291-62164309
31	CTCF	chr15:62164180-62164330	HRPEpiC	eye:	n/a	chr15:62164293-62164314 chr15:62164291-62164309
32	CTCF	chr15:62164220-62164370	HA-sp	spinal cord:	n/a	chr15:62164293-62164314 chr15:62164291-62164309
33	CTCF	chr15:62164240-62164390	HA-sp	spinal cord:	n/a	chr15:62164293-62164314 chr15:62164291-62164309
34	CTCF	chr15:62164171-62164388	LNCaP	prostate:	n/a	chr15:62164293-62164314 chr15:62164291-62164309
35	CTCF	chr15:62201413-62201513	MCF-7	breast:	n/a	n/a
36	CTCF	chr15:62164260-62164410	BJ	skin:	n/a	chr15:62164293-62164314 chr15:62164291-62164309
37	CTCF	chr15:62164151-62164477	HCT-116	colon:	n/a	chr15:62164293-62164314 chr15:62164291-62164309
38	CTCF	chr15:62164500-62164650	HMEC	breast:	n/a	n/a
39	CTCF	chr15:62148600-62148750	HPAF	blood vessel:	n/a	n/a
40	CTCF	chr15:62164172-62164412	Spleen_OC	spleen:	n/a	chr15:62164293-62164314 chr15:62164291-62164309
41	CTCF	chr15:62164280-62164430	HCM	heart:	n/a	chr15:62164293-62164314 chr15:62164291-62164309
42	CTCF	chr15:62164280-62164430	HBMEC	blood vessel:	n/a	chr15:62164293-62164314 chr15:62164291-62164309
43	CTCF	chr15:62148600-62148750	HMF	breast:	n/a	n/a
44	CTCF	chr15:62184513-62184605	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr15:62164189-62164391	GM13977	blood:	n/a	chr15:62164293-62164314 chr15:62164291-62164309
46	CTCF	chr15:62148540-62148690	GM12864	blood:	n/a	n/a
47	CTCF	chr15:62201380-62201530	HepG2	liver:	n/a	n/a
48	CTCF	chr15:62164095-62164560	K562	blood:	n/a	chr15:62164293-62164314 chr15:62164291-62164309
49	CTCF	chr15:62164244-62164331	GM13976	blood:	n/a	chr15:62164293-62164314 chr15:62164291-62164309
50	CTCF	chr15:62164168-62164377	A549	lung:	n/a	chr15:62164293-62164314 chr15:62164291-62164309

No.	Distal block	Cell Line	Cell type
1	chr15:62213296..62215607-chr15:62227904..62230544,2	K562	blood:
2	chr15:62148662..62150892-chr15:62154836..62157768,2	K562	blood:
3	chr15:62151269..62153840-chr15:62155833..62158326,2	K562	blood:
4	chr15:62231542..62233712-chr15:62238622..62240411,2	K562	blood:
5	chr15:62148662..62150892-chr15:62154836..62157768,2	K562	blood:
6	chr15:62164211..62164737-chr15:62546261..62547255,2	K562	blood:
7	chr11:22957855..22958444-chr15:62239142..62239729,2	MCF-7	breast:
8	chr15:62157514..62159480-chr15:62215874..62217523,2	K562	blood:
9	chr15:62223179..62225292-chr15:62226281..62228642,2	K562	blood:
10	chr15:62195135..62197262-chr15:62198825..62201096,2	MCF-7	breast:
11	chr15:62160043..62163025-chr15:62359293..62361455,2	MCF-7	breast:
12	chr15:62164230..62164773-chr15:62363602..62364393,2	K562	blood:
13	chr15:62213296..62215607-chr15:62227904..62230544,2	K562	blood:
14	chr15:62195135..62197262-chr15:62198825..62201096,2	MCF-7	breast:
15	chr15:62205557..62210722-chr15:62211814..62216434,5	K562	blood:
16	chr15:62235589..62237658-chr15:62241156..62242944,2	K562	blood:
17	chr15:62142649..62144721-chr15:62150330..62151848,2	MCF-7	breast:
18	chr15:62231542..62233712-chr15:62238622..62240411,2	K562	blood:
19	chr15:62236123..62237658-chr15:62241444..62244261,2	K562	blood:
20	chr15:62235589..62237658-chr15:62241156..62242944,2	K562	blood:
21	chr15:62170697..62173317-chr15:62182241..62184749,2	MCF-7	breast:
22	chr15:62222450..62224583-chr15:62247796..62249719,2	MCF-7	breast:
23	chr15:62223179..62225292-chr15:62226281..62228642,2	K562	blood:
24	chr15:62178968..62180848-chr15:62186299..62188013,2	K562	blood:
25	chr15:62204266..62207135-chr15:62210768..62213468,2	MCF-7	breast:
26	chr15:62170697..62173317-chr15:62182241..62184749,2	MCF-7	breast:
27	chr15:62241235..62242799-chr15:62250211..62252735,2	K562	blood:
28	chr15:62242750..62243662-chr5:173738637..173739199,2	MCF-7	breast:
29	chr15:62157514..62159480-chr15:62215874..62217523,2	K562	blood:
30	chr15:62236123..62237658-chr15:62241444..62244261,2	K562	blood:
31	chr15:62151580..62153257-chr15:62155803..62158666,2	MCF-7	breast:
32	chr15:62178968..62180848-chr15:62186299..62188013,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C2CD4A-10	chr15:62206624-62206875	NONHSAT044263

No.	miRNA target gene	miRNA name	Chromosome Location
1	VPS13C	hsa-miR-26b-5p	chr15:62157423-62157416
2	VPS13C	hsa-miR-128-3p	chr15:62160069-62160089
3	VPS13C	hsa-miR-26b-5p	chr15:62160099-62160122
4	VPS13C	hsa-miR-26b-5p	chr15:62160105-62160099
5	VPS13C	hsa-miR-186-5p	chr15:62160021-62160015
6	VPS13C	hsa-miR-186-5p	chr15:62160016-62160037

Variant related genes	Relation type
VPS13C	TF binding region
RN7SL613P	TF binding region
ENSG00000264376	chromatin interactions
ENSG00000129003	chromatin interactions

Extended variants
information (count: 4122 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:4122 , 50 per page) page: 1 2 3 4 5 6 7 ... 83

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17238096	chr15:62146598-62146599	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs372914606	chr15:62146634-62146635	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186236026	chr15:62146642-62146643	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377260221	chr15:62146663-62146664	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200747028	chr15:62146667-62146668	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557647780	chr15:62146668-62146669	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375378448	chr15:62146677-62146678	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190731657	chr15:62146706-62146707	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116147905	chr15:62146731-62146732	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111784309	chr15:62146741-62146742	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115819951	chr15:62146742-62146743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113741214	chr15:62146746-62146747	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574028586	chr15:62146798-62146799	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148520843	chr15:62146811-62146812	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560504005	chr15:62146839-62146840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182788247	chr15:62146885-62146886	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368001954	chr15:62146892-62146893	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546299639	chr15:62146913-62146914	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2241491	chr15:62146969-62146970	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs62007357	chr15:62146985-62146986	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs550014743	chr15:62147008-62147009	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112258238	chr15:62147031-62147032	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377662791	chr15:62147045-62147046	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371152575	chr15:62147051-62147052	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150119821	chr15:62147080-62147081	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138431400	chr15:62147082-62147083	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374500259	chr15:62147083-62147084	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62007358	chr15:62147087-62147088	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182054663	chr15:62147104-62147105	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370354566	chr15:62147109-62147110	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142776376	chr15:62147113-62147114	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143440944	chr15:62147116-62147117	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201885647	chr15:62147146-62147147	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111710593	chr15:62147170-62147171	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376540451	chr15:62147183-62147184	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201233802	chr15:62147199-62147200	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2241492	chr15:62147207-62147208	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs555638688	chr15:62147221-62147222	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573964904	chr15:62147318-62147319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs151126488	chr15:62147361-62147362	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551713203	chr15:62147362-62147363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572419880	chr15:62147365-62147366	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545935701	chr15:62147414-62147415	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562449074	chr15:62147504-62147505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553569347	chr15:62147519-62147520	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140165469	chr15:62147605-62147606	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576507240	chr15:62147645-62147646	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573510656	chr15:62147664-62147665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs78206609	chr15:62147672-62147673	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190114279	chr15:62147696-62147697	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	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
Prostate cancer	16573809	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	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Mental retardation	17124404	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Renal cell carcinoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Melanoma	20877625	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:2187 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:62132400-62159000	Weak transcription	HSMM	muscle
2	chr15:62132400-62171200	Weak transcription	HMEC	breast
3	chr15:62132800-62146600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr15:62135000-62161600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr15:62136800-62150000	Weak transcription	HSMMtube	muscle
6	chr15:62138800-62184200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr15:62139200-62146600	Weak transcription	Pancreas	Pancrea
8	chr15:62139200-62182200	Weak transcription	Brain Substantia Nigra	brain
9	chr15:62139400-62154800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr15:62139800-62185200	Weak transcription	NHLF	lung
11	chr15:62140000-62184800	Weak transcription	Right Ventricle	heart
12	chr15:62140200-62180000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr15:62140800-62149000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr15:62141000-62149400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr15:62141200-62149600	Weak transcription	Psoas Muscle	Psoas
16	chr15:62141200-62165400	Weak transcription	Brain Hippocampus Middle	brain
17	chr15:62141400-62146600	Weak transcription	GM12878-XiMat	blood
18	chr15:62141400-62160600	Weak transcription	Placenta	Placenta
19	chr15:62141400-62161400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr15:62141600-62149200	Weak transcription	Ovary	ovary
21	chr15:62141600-62161400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr15:62141600-62165000	Weak transcription	Thymus	Thymus
23	chr15:62141800-62149400	Weak transcription	Aorta	Aorta
24	chr15:62142000-62147400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr15:62142000-62165000	Weak transcription	Gastric	stomach
26	chr15:62142000-62209400	Weak transcription	Colonic Mucosa	Colon
27	chr15:62142200-62161600	Weak transcription	Fetal Stomach	stomach
28	chr15:62142200-62162800	Weak transcription	Hela-S3	cervix
29	chr15:62142400-62160800	Weak transcription	Fetal Muscle Trunk	muscle
30	chr15:62142400-62163800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr15:62142400-62253000	Weak transcription	Spleen	Spleen
32	chr15:62142600-62209200	Weak transcription	K562	blood
33	chr15:62143000-62164000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr15:62143200-62147200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr15:62143200-62151800	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr15:62143200-62152400	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr15:62143400-62147200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr15:62143600-62148000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr15:62143600-62149000	Weak transcription	Fetal Brain Female	brain
40	chr15:62143800-62182200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr15:62143800-62235600	Weak transcription	Fetal Brain Male	brain
42	chr15:62144000-62159800	Weak transcription	Osteobl	bone
43	chr15:62144000-62194600	Weak transcription	Fetal Lung	lung
44	chr15:62144200-62149400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr15:62144200-62160600	Weak transcription	Fetal Thymus	thymus
46	chr15:62144400-62146600	Weak transcription	Lung	lung
47	chr15:62144400-62147200	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr15:62144400-62149000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr15:62144400-62149400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr15:62144400-62149400	Weak transcription	Left Ventricle	heart

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