Variant report

Variant	nsv1038233
Chromosome Location	chr15:76855205-76895763
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:166)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:166 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:76865111-76865365	HepG2	liver:	n/a	n/a
2	ATF2	chr15:76867574-76868256	GM12878	blood:	n/a	n/a
3	ATF2	chr15:76867545-76868188	GM12878	blood:	n/a	n/a
4	BATF	chr15:76867629-76868083	GM12878	blood:	n/a	n/a
5	BATF	chr15:76868780-76869125	GM12878	blood:	n/a	n/a
6	BATF	chr15:76867553-76868299	GM12878	blood:	n/a	n/a
7	BCL11A	chr15:76867571-76868071	GM12878	blood:	n/a	n/a
8	BCL11A	chr15:76867646-76868017	GM12878	blood:	n/a	n/a
9	BCL3	chr15:76867671-76868118	GM12878	blood:	n/a	n/a
10	BCL3	chr15:76867594-76868106	GM12878	blood:	n/a	n/a
11	BCLAF1	chr15:76867350-76868205	GM12878	blood:	n/a	n/a
12	BCLAF1	chr15:76867603-76868092	GM12878	blood:	n/a	n/a
13	BHLHE40	chr15:76867676-76868010	GM12878	blood:	n/a	n/a
14	CEBPB	chr15:76865278-76865665	Hela-S3	cervix:	n/a	chr15:76865442-76865453
15	CEBPB	chr15:76865289-76865622	HepG2	liver:	n/a	chr15:76865442-76865453
16	CEBPB	chr15:76865304-76865598	K562	blood:	n/a	chr15:76865442-76865453
17	CEBPB	chr15:76865196-76865634	A549	lung:	n/a	chr15:76865442-76865453
18	CEBPB	chr15:76857150-76857393	K562	blood:	n/a	chr15:76857283-76857294
19	CEBPB	chr15:76869227-76869506	HepG2	liver:	n/a	n/a
20	CEBPB	chr15:76867691-76868041	GM12878	blood:	n/a	n/a
21	CEBPB	chr15:76857129-76857461	A549	lung:	n/a	chr15:76857283-76857294
22	CEBPB	chr15:76865082-76865698	A549	lung:	n/a	chr15:76865442-76865453
23	CEBPB	chr15:76865361-76865572	H1-hESC	embryonic stem cell:	n/a	chr15:76865442-76865453
24	CEBPB	chr15:76857118-76857460	HepG2	liver:	n/a	chr15:76857283-76857294
25	CEBPB	chr15:76857146-76857335	Hela-S3	cervix:	n/a	chr15:76857283-76857294
26	CEBPB	chr15:76869014-76869478	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr15:76867534-76868241	GM12878	blood:	n/a	n/a
28	CEBPB	chr15:76865274-76865637	IMR90	lung:	n/a	chr15:76865442-76865453
29	CEBPB	chr15:76857103-76857459	IMR90	lung:	n/a	chr15:76857283-76857294
30	CHD1	chr15:76865009-76865537	IMR90	lung:	n/a	n/a
31	CHD2	chr15:76869098-76869401	Hela-S3	cervix:	n/a	n/a
32	CREB1	chr15:76867561-76868169	GM12878	blood:	n/a	n/a
33	CTCF	chr15:76882560-76882710	NHEK	skin:	n/a	n/a
34	CTCF	chr15:76881520-76881670	WERI-Rb-1	eye:	n/a	n/a
35	CTCF	chr15:76881453-76881628	MCF-7	breast:	n/a	n/a
36	CTCF	chr15:76881480-76881630	MCF-7	breast:	n/a	n/a
37	CTCF	chr15:76881400-76881550	HEK293	kidney:	n/a	n/a
38	CTCF	chr15:76881480-76881630	HEEpiC	esophagus:	n/a	n/a
39	CTCF	chr15:76881508-76881622	Pancreas_OC	pancreas:	n/a	n/a
40	CTCF	chr15:76881511-76881568	MCF-7	breast:	n/a	n/a
41	CTCF	chr15:76881380-76881530	NHEK	skin:	n/a	n/a
42	CTCF	chr15:76869022-76869108	Gliobla	brain:	n/a	n/a
43	CTCF	chr15:76881300-76881450	NHEK	skin:	n/a	n/a
44	CTCF	chr15:76881400-76881550	Caco-2	colon:	n/a	n/a
45	CTCF	chr15:76881440-76881590	Hela-S3	cervix:	n/a	n/a
46	CTCF	chr15:76881460-76881610	HEEpiC	esophagus:	n/a	n/a
47	CTCF	chr15:76869020-76869170	AG10803	skin:	n/a	n/a
48	CTCF	chr15:76869047-76869085	Kidney_OC	kidney:	n/a	n/a
49	CTCF	chr15:76864880-76865030	A549	lung:	n/a	n/a
50	CTCF	chr15:76881480-76881630	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:76868964-76869014	LNCaP	prostate:	n/a
2	chr15:76868964-76869014	AG04450	lung:	fetal
3	chr15:76868964-76869014	Caco-2	colon:	n/a
4	chr15:76868964-76869014	HRPEpiC	eye:	n/a
5	chr15:76868964-76869014	GM12878	blood:	n/a
6	chr15:76868964-76869014	HRCEpiC	kidney:	n/a
7	chr15:76868964-76869014	A549	lung:	n/a
8	chr15:76868964-76869014	AG09309	skin:	n/a
9	chr15:76868964-76869014	T-47D	breast:	n/a
10	chr15:76868964-76869014	HEEpiC	esophagus:	n/a
11	chr15:76868964-76869014	HMEC	breast:	n/a
12	chr15:76868964-76869014	SK-N-MC	brain:	n/a
13	chr15:76868964-76869014	MCF-7	breast:	n/a
14	chr15:76868964-76869014	NHBE	bronchial:	n/a
15	chr15:76868964-76869014	HCPEpiC	choroid plexus:	n/a
16	chr15:76868964-76869014	K562	blood:	n/a
17	chr15:76868964-76869014	SK-N-SH_RA	brain:	n/a
18	chr15:76868964-76869014	AG10803	skin:	n/a
19	chr15:76868964-76869014	PrEC	prostate:	n/a
20	chr15:76868964-76869014	H1-hESC	embryonic stem cell:	embryo
21	chr15:76868964-76869014	NHDF-neo	bronchial:	n/a
22	chr15:76868964-76869014	AG09319	gingival:	n/a
23	chr15:76868964-76869014	IMR90	lung:	fetal
24	chr15:76868964-76869014	HL-60	blood:	n/a
25	chr15:76868964-76869014	U87	brain:	n/a
26	chr15:76868964-76869014	HUVEC	blood vessel:	n/a
27	chr15:76868964-76869014	HCT-116	colon:	n/a
28	chr15:76868964-76869014	HepG2	liver:	n/a
29	chr15:76868964-76869014	SK-N-SH	brain:	n/a
30	chr15:76868964-76869014	MCF10A-Er-Src	breast:	n/a
31	chr15:76868964-76869014	HIPEpiC	eye:	n/a
32	chr15:76868964-76869014	GM12891	blood:	n/a
33	chr15:76868964-76869014	Jurkat	blood:	n/a
34	chr15:76868964-76869014	GM19239	blood:	n/a
35	chr15:76868964-76869014	ovcar-3	ovarian:	n/a
36	chr15:76868964-76869014	HAEpiC	amniotic membrane:	n/a
37	chr15:76868964-76869014	HEK293	kidney:	embryo
38	chr15:76868964-76869014	HPAEpiC	pulmonary alveolar:	n/a
39	chr15:76868964-76869014	CMK	blood:	n/a
40	chr15:76868964-76869014	Hela-S3	cervix:	n/a
41	chr15:76868964-76869014	BJ	skin:	n/a
42	chr15:76868964-76869014	ECC-1	luminal epithelium:	n/a
43	chr15:76868964-76869014	Hepatocyte	liver:	n/a
44	chr15:76868964-76869014	HNPCEpiC	eye:	n/a
45	chr15:76868964-76869014	NB4	blood:	n/a
46	chr15:76868964-76869014	HRE	kidney:	n/a
47	chr15:76868964-76869014	RPTEC	kidney:	n/a
48	chr15:76868964-76869014	NT2-D1	testis:	n/a
49	chr15:76868964-76869014	HCM	heart:	n/a
50	chr15:76868964-76869014	PFSK-1	brain:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:76877558..76879609-chr15:76881319..76882907,2	K562	blood:
2	chr15:76855877..76857707-chr15:76866696..76869240,2	MCF-7	breast:
3	chr15:76855877..76857707-chr15:76866696..76869240,2	MCF-7	breast:

No data

miRNA name	Chromosome Location	mirBase accession
hsa-miR-3713	chr15:76878988-76879007	MIMAT0018164

No data

Variant related genes	Relation type
SCAPER	TF binding region
MIR3713	TF binding region
SCAPER	CpG island
MIR3713	CpG island
ENSG00000266449	chromatin interactions

Extended variants
information (count: 1315 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:1315 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566652500	chr15:76855216-76855217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553894519	chr15:76855231-76855232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533918150	chr15:76855273-76855274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549155410	chr15:76855386-76855387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143858389	chr15:76855389-76855390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538164636	chr15:76855414-76855415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188589081	chr15:76855416-76855417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs578229256	chr15:76855451-76855452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77830617	chr15:76855458-76855459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147267269	chr15:76855543-76855544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553884975	chr15:76855553-76855554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555789084	chr15:76855586-76855587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149798874	chr15:76855612-76855613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572214630	chr15:76855653-76855654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542607370	chr15:76855715-76855716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554273417	chr15:76855720-76855721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575625477	chr15:76855760-76855761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139816016	chr15:76855785-76855786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543368456	chr15:76855817-76855818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77722290	chr15:76855841-76855842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs180815275	chr15:76855872-76855873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77298388	chr15:76855889-76855890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552760738	chr15:76855903-76855904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs157757	chr15:76855927-76855928	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs560209465	chr15:76855993-76855994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186288129	chr15:76856062-76856063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78646578	chr15:76856081-76856082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572079474	chr15:76856101-76856102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190309761	chr15:76856126-76856127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567566097	chr15:76856144-76856145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs166905	chr15:76856179-76856180	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs550183838	chr15:76856232-76856233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113201886	chr15:76856314-76856315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370430803	chr15:76856317-76856318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572002133	chr15:76856333-76856334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539223443	chr15:76856338-76856339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148230345	chr15:76856378-76856379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565735323	chr15:76856386-76856387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144811792	chr15:76856395-76856396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs415439	chr15:76856426-76856427	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs575972379	chr15:76856427-76856428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543434990	chr15:76856430-76856431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182238932	chr15:76856433-76856434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148561069	chr15:76856435-76856436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112001558	chr15:76856441-76856442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540779141	chr15:76856509-76856510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544085007	chr15:76856523-76856524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565289101	chr15:76856551-76856552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562904043	chr15:76856587-76856588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187295125	chr15:76856588-76856589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	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
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	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
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:315 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76846000-76862800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr15:76846000-76869000	Weak transcription	Left Ventricle	heart
3	chr15:76846000-76869000	Weak transcription	Pancreas	Pancrea
4	chr15:76846200-76868800	Weak transcription	Fetal Intestine Small	intestine
5	chr15:76847000-76868200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr15:76847200-76862400	Weak transcription	Dnd41	blood
7	chr15:76848200-76863000	Weak transcription	Primary T cells from cord blood	blood
8	chr15:76850200-76868400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr15:76851200-76862400	Weak transcription	Primary B cells from cord blood	blood
10	chr15:76852000-76867000	Weak transcription	Primary B cells from peripheral blood	blood
11	chr15:76852800-76861800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr15:76856400-76863800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr15:76857000-76868800	Weak transcription	Liver	Liver
14	chr15:76857800-76858600	Enhancers	Fetal Brain Male	brain
15	chr15:76858000-76858600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr15:76858200-76862400	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr15:76858400-76858600	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr15:76858400-76858800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr15:76858400-76858800	Enhancers	Fetal Lung	lung
20	chr15:76858400-76859000	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr15:76858400-76859000	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr15:76858400-76859000	Enhancers	Fetal Stomach	stomach
23	chr15:76858400-76859000	Enhancers	HSMMtube	muscle
24	chr15:76858600-76858800	Enhancers	H1 Cell Line	embryonic stem cell
25	chr15:76858600-76863000	Weak transcription	Fetal Brain Male	brain
26	chr15:76858600-76869000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr15:76859000-76860200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr15:76860000-76868400	Weak transcription	Esophagus	oesophagus
29	chr15:76861000-76866400	Weak transcription	Duodenum Mucosa	Duodenum
30	chr15:76861400-76866000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr15:76861600-76869200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr15:76861800-76863400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr15:76861800-76869000	Weak transcription	Colonic Mucosa	Colon
34	chr15:76861800-76869000	Weak transcription	Placenta	Placenta
35	chr15:76862400-76862600	ZNF genes & repeats	Primary B cells from cord blood	blood
36	chr15:76862400-76862600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr15:76862400-76862600	ZNF genes & repeats	Dnd41	blood
38	chr15:76862400-76863000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
39	chr15:76862400-76863200	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr15:76862400-76864800	Weak transcription	Ovary	ovary
41	chr15:76862600-76862800	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr15:76862600-76862800	Weak transcription	Dnd41	blood
43	chr15:76862600-76864000	Strong transcription	Primary B cells from cord blood	blood
44	chr15:76862600-76868800	Weak transcription	Adipose Nuclei	Adipose
45	chr15:76862600-76869000	Weak transcription	Right Ventricle	heart
46	chr15:76862600-76872000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr15:76862800-76863600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
48	chr15:76862800-76863600	Strong transcription	Dnd41	blood
49	chr15:76862800-76865400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr15:76863000-76863200	Active TSS	Fetal Brain Male	brain

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