Variant report

Variant	nsv1042514
Chromosome Location	chr15:76838221-76906382
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:201)
CpG islands
(count:122)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:201 , 50 per page) page: 1 2 3 4 5

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	chr15:76867545-76868188	GM12878	blood:	n/a	n/a
3	ATF2	chr15:76867574-76868256	GM12878	blood:	n/a	n/a
4	BATF	chr15:76867629-76868083	GM12878	blood:	n/a	n/a
5	BATF	chr15:76867553-76868299	GM12878	blood:	n/a	n/a
6	BATF	chr15:76868780-76869125	GM12878	blood:	n/a	n/a
7	BCL11A	chr15:76867646-76868017	GM12878	blood:	n/a	n/a
8	BCL11A	chr15:76867571-76868071	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	chr15:76857146-76857335	Hela-S3	cervix:	n/a	chr15:76857283-76857294
15	CEBPB	chr15:76865304-76865598	K562	blood:	n/a	chr15:76865442-76865453
16	CEBPB	chr15:76857150-76857393	K562	blood:	n/a	chr15:76857283-76857294
17	CEBPB	chr15:76839201-76839452	A549	lung:	n/a	chr15:76839336-76839347
18	CEBPB	chr15:76852010-76852215	A549	lung:	n/a	n/a
19	CEBPB	chr15:76865196-76865634	A549	lung:	n/a	chr15:76865442-76865453
20	CEBPB	chr15:76839190-76839507	HepG2	liver:	n/a	chr15:76839336-76839347
21	CEBPB	chr15:76865289-76865622	HepG2	liver:	n/a	chr15:76865442-76865453
22	CEBPB	chr15:76857118-76857460	HepG2	liver:	n/a	chr15:76857283-76857294
23	CEBPB	chr15:76867691-76868041	GM12878	blood:	n/a	n/a
24	CEBPB	chr15:76857103-76857459	IMR90	lung:	n/a	chr15:76857283-76857294
25	CEBPB	chr15:76865082-76865698	A549	lung:	n/a	chr15:76865442-76865453
26	CEBPB	chr15:76839240-76839462	K562	blood:	n/a	chr15:76839336-76839347
27	CEBPB	chr15:76857129-76857461	A549	lung:	n/a	chr15:76857283-76857294
28	CEBPB	chr15:76867534-76868241	GM12878	blood:	n/a	n/a
29	CEBPB	chr15:76869227-76869506	HepG2	liver:	n/a	n/a
30	CEBPB	chr15:76865274-76865637	IMR90	lung:	n/a	chr15:76865442-76865453
31	CEBPB	chr15:76865361-76865572	H1-hESC	embryonic stem cell:	n/a	chr15:76865442-76865453
32	CEBPB	chr15:76839173-76839513	IMR90	lung:	n/a	chr15:76839336-76839347
33	CEBPB	chr15:76865278-76865665	Hela-S3	cervix:	n/a	chr15:76865442-76865453
34	CEBPB	chr15:76869014-76869478	Hela-S3	cervix:	n/a	n/a
35	CHD1	chr15:76865009-76865537	IMR90	lung:	n/a	n/a
36	CHD2	chr15:76869098-76869401	Hela-S3	cervix:	n/a	n/a
37	CREB1	chr15:76867561-76868169	GM12878	blood:	n/a	n/a
38	CTCF	chr15:76882560-76882710	NHEK	skin:	n/a	n/a
39	CTCF	chr15:76881460-76881610	HEEpiC	esophagus:	n/a	n/a
40	CTCF	chr15:76881480-76881630	MCF-7	breast:	n/a	n/a
41	CTCF	chr15:76881511-76881568	MCF-7	breast:	n/a	n/a
42	CTCF	chr15:76869047-76869085	Kidney_OC	kidney:	n/a	n/a
43	CTCF	chr15:76881480-76881630	HepG2	liver:	n/a	n/a
44	CTCF	chr15:76900780-76900838	MCF-7	breast:	n/a	n/a
45	CTCF	chr15:76900763-76900839	MCF-7	breast:	n/a	n/a
46	CTCF	chr15:76881400-76881550	HEK293	kidney:	n/a	n/a
47	CTCF	chr15:76881508-76881622	Pancreas_OC	pancreas:	n/a	n/a
48	CTCF	chr15:76900782-76900839	MCF-7	breast:	n/a	n/a
49	CTCF	chr15:76881400-76881550	Caco-2	colon:	n/a	n/a
50	CTCF	chr15:76881440-76881590	Hela-S3	cervix:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:76901065-76901115	HCT-116	colon:	n/a
2	chr15:76868964-76869014	AG09319	gingival:	n/a
3	chr15:76868964-76869014	AG09309	skin:	n/a
4	chr15:76901065-76901115	SAEC	small airway:	n/a
5	chr15:76868964-76869014	U87	brain:	n/a
6	chr15:76901065-76901115	AG09309	skin:	n/a
7	chr15:76868964-76869014	H1-hESC	embryonic stem cell:	embryo
8	chr15:76901065-76901115	AG04449	skin:	fetal
9	chr15:76901065-76901115	IMR90	lung:	fetal
10	chr15:76868964-76869014	SK-N-MC	brain:	n/a
11	chr15:76901065-76901115	PANC-1	pancreas:	n/a
12	chr15:76901065-76901115	GM12892	blood:	n/a
13	chr15:76901065-76901115	BE2_C	brain:	n/a
14	chr15:76868964-76869014	ovcar-3	ovarian:	n/a
15	chr15:76868964-76869014	Hela-S3	cervix:	n/a
16	chr15:76901065-76901115	AG10803	skin:	n/a
17	chr15:76868964-76869014	HepG2	liver:	n/a
18	chr15:76901065-76901115	HEEpiC	esophagus:	n/a
19	chr15:76868964-76869014	K562	blood:	n/a
20	chr15:76868964-76869014	CMK	blood:	n/a
21	chr15:76901065-76901115	Hela-S3	cervix:	n/a
22	chr15:76868964-76869014	SK-N-SH_RA	brain:	n/a
23	chr15:76868964-76869014	SK-N-SH	brain:	n/a
24	chr15:76901065-76901115	SKMC	muscle:	n/a
25	chr15:76868964-76869014	RPTEC	kidney:	n/a
26	chr15:76868964-76869014	NB4	blood:	n/a
27	chr15:76868964-76869014	HMEC	breast:	n/a
28	chr15:76868964-76869014	PrEC	prostate:	n/a
29	chr15:76868964-76869014	SKMC	muscle:	n/a
30	chr15:76868964-76869014	GM12892	blood:	n/a
31	chr15:76901065-76901115	HAEpiC	amniotic membrane:	n/a
32	chr15:76901065-76901115	HCM	heart:	n/a
33	chr15:76901065-76901115	AG09319	gingival:	n/a
34	chr15:76868964-76869014	HRPEpiC	eye:	n/a
35	chr15:76901065-76901115	MCF10A-Er-Src	breast:	n/a
36	chr15:76868964-76869014	BJ	skin:	n/a
37	chr15:76868964-76869014	Caco-2	colon:	n/a
38	chr15:76901065-76901115	AG04450	lung:	fetal
39	chr15:76901065-76901115	ovcar-3	ovarian:	n/a
40	chr15:76868964-76869014	HUVEC	blood vessel:	n/a
41	chr15:76901065-76901115	U87	brain:	n/a
42	chr15:76868964-76869014	NT2-D1	testis:	n/a
43	chr15:76901065-76901115	HepG2	liver:	n/a
44	chr15:76868964-76869014	AG04449	skin:	fetal
45	chr15:76868964-76869014	GM12891	blood:	n/a
46	chr15:76868964-76869014	PFSK-1	brain:	n/a
47	chr15:76901065-76901115	HL-60	blood:	n/a
48	chr15:76868964-76869014	NHBE	bronchial:	n/a
49	chr15:76868964-76869014	ProgFib	skin:	n/a
50	chr15:76868964-76869014	T-47D	breast:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr15:76855877..76857707-chr15:76866696..76869240,2	MCF-7	breast:
2	chr15:76877558..76879609-chr15:76881319..76882907,2	K562	blood:
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: 2378 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:2378 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4886813	chr15:76838221-76838222	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs546211067	chr15:76838324-76838325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142160417	chr15:76838350-76838351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564370591	chr15:76838375-76838376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186646171	chr15:76838376-76838377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79256615	chr15:76838387-76838388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546986223	chr15:76838495-76838496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150783432	chr15:76838516-76838517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529464099	chr15:76838578-76838579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139309675	chr15:76838600-76838601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111391635	chr15:76838602-76838603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548453251	chr15:76838663-76838664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572592944	chr15:76838690-76838691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543240937	chr15:76838697-76838698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557691006	chr15:76838699-76838700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566356085	chr15:76838705-76838706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568094835	chr15:76838740-76838741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537020386	chr15:76838839-76838840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550570155	chr15:76838878-76838879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570581306	chr15:76838888-76838889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534062773	chr15:76838954-76838955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561595730	chr15:76838967-76838968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145432300	chr15:76838968-76838969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555398861	chr15:76838973-76838974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201691086	chr15:76838975-76838976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139483801	chr15:76838985-76838986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574012330	chr15:76839092-76839093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530648580	chr15:76839103-76839104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544404705	chr15:76839116-76839117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116600341	chr15:76839137-76839138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575807356	chr15:76839145-76839146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539480275	chr15:76839158-76839159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546321275	chr15:76839180-76839181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190592108	chr15:76839244-76839245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182884469	chr15:76839278-76839279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540890353	chr15:76839376-76839377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146522783	chr15:76839386-76839387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570255425	chr15:76839428-76839429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11858674	chr15:76839439-76839440	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs550751292	chr15:76839459-76839460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs157771	chr15:76839485-76839486	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs370845250	chr15:76839530-76839531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532824271	chr15:76839538-76839539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139488610	chr15:76839540-76839541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566436564	chr15:76839559-76839560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533533313	chr15:76839573-76839574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs62030369	chr15:76839701-76839702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558890734	chr15:76839812-76839813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs157772	chr15:76839823-76839824	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs567559550	chr15:76839838-76839839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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	21611746	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:426 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76805600-76845800	Weak transcription	Primary T cells from cord blood	blood
2	chr15:76842000-76844200	Weak transcription	Fetal Stomach	stomach
3	chr15:76842200-76845400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr15:76842400-76845600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr15:76842600-76845400	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr15:76842600-76845600	Weak transcription	Lung	lung
7	chr15:76842600-76845800	Weak transcription	Spleen	Spleen
8	chr15:76842800-76843000	ZNF genes & repeats	Primary B cells from cord blood	blood
9	chr15:76842800-76846200	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr15:76843000-76844200	Weak transcription	Fetal Intestine Small	intestine
11	chr15:76843000-76844600	Weak transcription	Pancreas	Pancrea
12	chr15:76843000-76845400	Weak transcription	Left Ventricle	heart
13	chr15:76843000-76853400	Weak transcription	Brain Hippocampus Middle	brain
14	chr15:76843200-76844800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr15:76843200-76845200	Weak transcription	Fetal Muscle Leg	muscle
16	chr15:76843200-76845400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr15:76843400-76843800	ZNF genes & repeats	Primary B cells from cord blood	blood
18	chr15:76843600-76846000	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr15:76843800-76850600	Weak transcription	Primary B cells from cord blood	blood
20	chr15:76844200-76844400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr15:76844200-76845200	Strong transcription	Fetal Stomach	stomach
22	chr15:76844200-76846200	Strong transcription	Fetal Intestine Small	intestine
23	chr15:76844400-76846600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr15:76844600-76846000	Strong transcription	Pancreas	Pancrea
25	chr15:76844800-76845400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr15:76844800-76845600	Weak transcription	Esophagus	oesophagus
27	chr15:76845000-76845800	Enhancers	Right Ventricle	heart
28	chr15:76845200-76845400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr15:76845200-76845600	Enhancers	Placenta	Placenta
30	chr15:76845200-76846200	Enhancers	Fetal Thymus	thymus
31	chr15:76845200-76846600	Weak transcription	Fetal Stomach	stomach
32	chr15:76845400-76845600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr15:76845400-76845800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr15:76845400-76846000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr15:76845400-76846000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr15:76845400-76846000	Enhancers	Left Ventricle	heart
37	chr15:76845400-76846200	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr15:76845400-76846200	Enhancers	Primary T cells fromperipheralblood	blood
39	chr15:76845400-76847000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr15:76845600-76845800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr15:76845600-76845800	Enhancers	Lung	lung
42	chr15:76845600-76846000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr15:76845600-76846400	Enhancers	Thymus	Thymus
44	chr15:76845600-76846600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr15:76845600-76847200	Enhancers	Dnd41	blood
46	chr15:76845800-76846000	Enhancers	Spleen	Spleen
47	chr15:76845800-76846200	Weak transcription	Lung	lung
48	chr15:76845800-76847000	Enhancers	Primary T cells from cord blood	blood
49	chr15:76845800-76847800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr15:76845800-76851400	Weak transcription	Right Ventricle	heart

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