Variant report

Variant	nsv1037282
Chromosome Location	chr15:76859309-76895763
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:157)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:157 , 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	chr15:76867545-76868188	GM12878	blood:	n/a	n/a
3	ATF2	chr15:76867574-76868256	GM12878	blood:	n/a	n/a
4	BATF	chr15:76868780-76869125	GM12878	blood:	n/a	n/a
5	BATF	chr15:76867553-76868299	GM12878	blood:	n/a	n/a
6	BATF	chr15:76867629-76868083	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	chr15:76867594-76868106	GM12878	blood:	n/a	n/a
10	BCL3	chr15:76867671-76868118	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	chr15:76869227-76869506	HepG2	liver:	n/a	n/a
15	CEBPB	chr15:76865082-76865698	A549	lung:	n/a	chr15:76865442-76865453
16	CEBPB	chr15:76867691-76868041	GM12878	blood:	n/a	n/a
17	CEBPB	chr15:76869014-76869478	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr15:76865278-76865665	Hela-S3	cervix:	n/a	chr15:76865442-76865453
19	CEBPB	chr15:76865289-76865622	HepG2	liver:	n/a	chr15:76865442-76865453
20	CEBPB	chr15:76865274-76865637	IMR90	lung:	n/a	chr15:76865442-76865453
21	CEBPB	chr15:76865361-76865572	H1-hESC	embryonic stem cell:	n/a	chr15:76865442-76865453
22	CEBPB	chr15:76865196-76865634	A549	lung:	n/a	chr15:76865442-76865453
23	CEBPB	chr15:76867534-76868241	GM12878	blood:	n/a	n/a
24	CEBPB	chr15:76865304-76865598	K562	blood:	n/a	chr15:76865442-76865453
25	CHD1	chr15:76865009-76865537	IMR90	lung:	n/a	n/a
26	CHD2	chr15:76869098-76869401	Hela-S3	cervix:	n/a	n/a
27	CREB1	chr15:76867561-76868169	GM12878	blood:	n/a	n/a
28	CTCF	chr15:76881453-76881628	MCF-7	breast:	n/a	n/a
29	CTCF	chr15:76869020-76869170	AG10803	skin:	n/a	n/a
30	CTCF	chr15:76881380-76881530	NHEK	skin:	n/a	n/a
31	CTCF	chr15:76881300-76881450	NHEK	skin:	n/a	n/a
32	CTCF	chr15:76881480-76881630	HepG2	liver:	n/a	n/a
33	CTCF	chr15:76881520-76881670	WERI-Rb-1	eye:	n/a	n/a
34	CTCF	chr15:76864880-76865030	A549	lung:	n/a	n/a
35	CTCF	chr15:76869022-76869108	Gliobla	brain:	n/a	n/a
36	CTCF	chr15:76869047-76869085	Kidney_OC	kidney:	n/a	n/a
37	CTCF	chr15:76881400-76881550	HEK293	kidney:	n/a	n/a
38	CTCF	chr15:76881511-76881568	MCF-7	breast:	n/a	n/a
39	CTCF	chr15:76881400-76881550	Caco-2	colon:	n/a	n/a
40	CTCF	chr15:76881440-76881590	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr15:76882560-76882710	NHEK	skin:	n/a	n/a
42	CTCF	chr15:76881480-76881630	MCF-7	breast:	n/a	n/a
43	CTCF	chr15:76881508-76881622	Pancreas_OC	pancreas:	n/a	n/a
44	CTCF	chr15:76881460-76881610	HEEpiC	esophagus:	n/a	n/a
45	CTCF	chr15:76881480-76881630	HEEpiC	esophagus:	n/a	n/a
46	EBF1	chr15:76868806-76869204	GM12878	blood:	n/a	n/a
47	EBF1	chr15:76867742-76868027	GM12878	blood:	n/a	n/a
48	EBF1	chr15:76868902-76869184	GM12878	blood:	n/a	n/a
49	EP300	chr15:76867708-76868049	GM12878	blood:	n/a	n/a
50	EP300	chr15:76867581-76868057	GM12878	blood:	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	SK-N-MC	brain:	n/a
2	chr15:76868964-76869014	ProgFib	skin:	n/a
3	chr15:76868964-76869014	GM06990	blood:	n/a
4	chr15:76868964-76869014	CMK	blood:	n/a
5	chr15:76868964-76869014	NB4	blood:	n/a
6	chr15:76868964-76869014	HEEpiC	esophagus:	n/a
7	chr15:76868964-76869014	MCF-7	breast:	n/a
8	chr15:76868964-76869014	AG10803	skin:	n/a
9	chr15:76868964-76869014	NHBE	bronchial:	n/a
10	chr15:76868964-76869014	GM12878	blood:	n/a
11	chr15:76868964-76869014	IMR90	lung:	fetal
12	chr15:76868964-76869014	BJ	skin:	n/a
13	chr15:76868964-76869014	Jurkat	blood:	n/a
14	chr15:76868964-76869014	SAEC	small airway:	n/a
15	chr15:76868964-76869014	SK-N-SH_RA	brain:	n/a
16	chr15:76868964-76869014	HMEC	breast:	n/a
17	chr15:76868964-76869014	Hela-S3	cervix:	n/a
18	chr15:76868964-76869014	HIPEpiC	eye:	n/a
19	chr15:76868964-76869014	HPAEpiC	pulmonary alveolar:	n/a
20	chr15:76868964-76869014	HRCEpiC	kidney:	n/a
21	chr15:76868964-76869014	HCM	heart:	n/a
22	chr15:76868964-76869014	PrEC	prostate:	n/a
23	chr15:76868964-76869014	K562	blood:	n/a
24	chr15:76868964-76869014	AG09319	gingival:	n/a
25	chr15:76868964-76869014	A549	lung:	n/a
26	chr15:76868964-76869014	HUVEC	blood vessel:	n/a
27	chr15:76868964-76869014	SK-N-SH	brain:	n/a
28	chr15:76868964-76869014	HCF	heart:	n/a
29	chr15:76868964-76869014	H1-hESC	embryonic stem cell:	embryo
30	chr15:76868964-76869014	PFSK-1	brain:	n/a
31	chr15:76868964-76869014	HRPEpiC	eye:	n/a
32	chr15:76868964-76869014	HEK293	kidney:	embryo
33	chr15:76868964-76869014	AoSMC	blood vessel:	n/a
34	chr15:76868964-76869014	BE2_C	brain:	n/a
35	chr15:76868964-76869014	HAEpiC	amniotic membrane:	n/a
36	chr15:76868964-76869014	HNPCEpiC	eye:	n/a
37	chr15:76868964-76869014	HepG2	liver:	n/a
38	chr15:76868964-76869014	NT2-D1	testis:	n/a
39	chr15:76868964-76869014	T-47D	breast:	n/a
40	chr15:76868964-76869014	MCF10A-Er-Src	breast:	n/a
41	chr15:76868964-76869014	NH-A	brain:	n/a
42	chr15:76868964-76869014	HCT-116	colon:	n/a
43	chr15:76868964-76869014	GM19239	blood:	n/a
44	chr15:76868964-76869014	HL-60	blood:	n/a
45	chr15:76868964-76869014	ovcar-3	ovarian:	n/a
46	chr15:76868964-76869014	ECC-1	luminal epithelium:	n/a
47	chr15:76868964-76869014	HCPEpiC	choroid plexus:	n/a
48	chr15:76868964-76869014	AG04449	skin:	fetal
49	chr15:76868964-76869014	HRE	kidney:	n/a
50	chr15:76868964-76869014	Hepatocyte	liver:	n/a

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

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

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: 1183 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:1183 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554446513	chr15:76859409-76859410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73455162	chr15:76859477-76859478	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs375042960	chr15:76859489-76859490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs367648785	chr15:76859548-76859549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563833768	chr15:76859585-76859586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116905657	chr15:76859589-76859590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574268219	chr15:76859622-76859623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188792069	chr15:76859712-76859713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568066046	chr15:76859824-76859825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148324255	chr15:76859827-76859828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141444245	chr15:76859841-76859842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543371145	chr15:76859892-76859893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550831970	chr15:76859935-76859936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569210805	chr15:76859946-76859947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs59088060	chr15:76859974-76859975	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs191924479	chr15:76860010-76860011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570912161	chr15:76860038-76860039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535134814	chr15:76860111-76860112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545079179	chr15:76860118-76860119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553064383	chr15:76860132-76860133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563600614	chr15:76860179-76860180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184484027	chr15:76860188-76860189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557621672	chr15:76860194-76860195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575576809	chr15:76860223-76860224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150853996	chr15:76860361-76860362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564346464	chr15:76860381-76860382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188543131	chr15:76860403-76860404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191810252	chr15:76860418-76860419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184296384	chr15:76860457-76860458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372712322	chr15:76860532-76860533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561660443	chr15:76860551-76860552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs67835907	chr15:76860557-76860558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs28566073	chr15:76860565-76860566	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs60959582	chr15:76860566-76860567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575626138	chr15:76860629-76860630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75613414	chr15:76860700-76860701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562770174	chr15:76860719-76860720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567160657	chr15:76860757-76860758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139341588	chr15:76860795-76860796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551562637	chr15:76860796-76860797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549538771	chr15:76860802-76860803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376177880	chr15:76860816-76860817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566693022	chr15:76860823-76860824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533772918	chr15:76860834-76860835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547055931	chr15:76860855-76860856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569919601	chr15:76860863-76860864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369205217	chr15:76860951-76860952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78000393	chr15:76861027-76861028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs118045971	chr15:76861052-76861053	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
50	rs180861846	chr15:76861094-76861095	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:305 , 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	chr15:76858200-76862400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr15:76858600-76863000	Weak transcription	Fetal Brain Male	brain
16	chr15:76858600-76869000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr15:76859000-76860200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr15:76860000-76868400	Weak transcription	Esophagus	oesophagus
19	chr15:76861000-76866400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr15:76861400-76866000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr15:76861600-76869200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr15:76861800-76863400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr15:76861800-76869000	Weak transcription	Colonic Mucosa	Colon
24	chr15:76861800-76869000	Weak transcription	Placenta	Placenta
25	chr15:76862400-76862600	ZNF genes & repeats	Primary B cells from cord blood	blood
26	chr15:76862400-76862600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr15:76862400-76862600	ZNF genes & repeats	Dnd41	blood
28	chr15:76862400-76863000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
29	chr15:76862400-76863200	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr15:76862400-76864800	Weak transcription	Ovary	ovary
31	chr15:76862600-76862800	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr15:76862600-76862800	Weak transcription	Dnd41	blood
33	chr15:76862600-76864000	Strong transcription	Primary B cells from cord blood	blood
34	chr15:76862600-76868800	Weak transcription	Adipose Nuclei	Adipose
35	chr15:76862600-76869000	Weak transcription	Right Ventricle	heart
36	chr15:76862600-76872000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr15:76862800-76863600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
38	chr15:76862800-76863600	Strong transcription	Dnd41	blood
39	chr15:76862800-76865400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr15:76863000-76863200	Active TSS	Fetal Brain Male	brain
41	chr15:76863000-76863400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr15:76863000-76864800	Weak transcription	A549	lung
43	chr15:76863000-76865200	Strong transcription	Primary T cells from cord blood	blood
44	chr15:76863000-76865600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr15:76863000-76867400	Weak transcription	Fetal Heart	heart
46	chr15:76863000-76869000	Weak transcription	Fetal Muscle Leg	muscle
47	chr15:76863200-76867200	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr15:76863400-76864200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr15:76863400-76867800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr15:76863400-76868600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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