Variant report

Variant	nsv569973
Chromosome Location	chr15:74648060-74656553
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:39 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr15:74651781-74652041	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr15:74653307-74653601	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr15:74651954-74651980	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr15:74652339-74652875	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr15:74651813-74651942	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr15:74649871-74650178	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr15:74649088-74649127	LNCaP	prostate:	n/a	n/a
8	CTCF	chr15:74648752-74648810	Kidney_OC	kidney:	n/a	n/a
9	CTCF	chr15:74655706-74655765	GM13976	blood:	n/a	n/a
10	EP300	chr15:74652357-74652751	Hela-S3	cervix:	n/a	n/a
11	FOS	chr15:74653294-74653609	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr15:74653289-74653615	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr15:74653234-74653612	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr15:74653240-74653674	MCF10A-Er-Src	breast:	n/a	n/a
15	GATA2	chr15:74654339-74654573	K562	blood:	n/a	n/a
16	JUND	chr15:74654866-74655165	HepG2	liver:	n/a	n/a
17	MAFF	chr15:74653325-74653442	HepG2	liver:	n/a	chr15:74653388-74653406
18	MAFK	chr15:74653299-74653512	HepG2	liver:	n/a	n/a
19	MAFK	chr15:74653298-74653532	IMR90	lung:	n/a	n/a
20	MAFK	chr15:74651965-74652134	Hela-S3	cervix:	n/a	n/a
21	MAFK	chr15:74653237-74653550	Hela-S3	cervix:	n/a	n/a
22	MAX	chr15:74652356-74652734	Hela-S3	cervix:	n/a	n/a
23	MAX	chr15:74649880-74650090	Hela-S3	cervix:	n/a	n/a
24	MXI1	chr15:74652391-74652718	Hela-S3	cervix:	n/a	n/a
25	MYC	chr15:74652482-74652592	Hela-S3	cervix:	n/a	n/a
26	NR3C1	chr15:74651717-74652042	A549	lung:	n/a	n/a
27	NR3C1	chr15:74651700-74652025	A549	lung:	n/a	n/a
28	POLR2A	chr15:74652454-74652631	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr15:74651699-74651876	H1-hESC	embryonic stem cell:	n/a	n/a
30	RCOR1	chr15:74652524-74652724	Hela-S3	cervix:	n/a	n/a
31	RCOR1	chr15:74649968-74649997	Hela-S3	cervix:	n/a	n/a
32	SP1	chr15:74651821-74652133	H1-hESC	embryonic stem cell:	n/a	chr15:74652000-74652011
33	STAT3	chr15:74653239-74653615	MCF10A-Er-Src	breast:	n/a	n/a
34	STAT3	chr15:74653185-74653616	MCF10A-Er-Src	breast:	n/a	n/a
35	STAT3	chr15:74653291-74653614	MCF10A-Er-Src	breast:	n/a	n/a
36	STAT3	chr15:74653309-74653518	Hela-S3	cervix:	n/a	n/a
37	STAT3	chr15:74653307-74653615	MCF10A-Er-Src	breast:	n/a	n/a
38	STAT3	chr15:74655689-74655851	MCF10A-Er-Src	breast:	n/a	n/a
39	USF2	chr15:74652373-74652705	Hela-S3	cervix:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC33-3	chr15:74653855-74654244	NONHSAT047227
2	lnc-CCDC33-3	chr15:74648624-74648816	NONHSAT047227
3	lnc-CCDC33-3	chr15:74653855-74656961	NONHSAT047228
4	lnc-CCDC33-3	chr15:74653893-74654382	NR_045207

No data

Variant related genes	Relation type
ENSG00000261821	TF binding region
ENSG00000260266	TF binding region
CYP11A1	TF binding region

Extended variants
information (count: 254 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:254 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12595816	chr15:74648060-74648061	Weak transcription Active TSS ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs559451093	chr15:74648123-74648124	Weak transcription Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189828144	chr15:74648216-74648217	Weak transcription Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558989635	chr15:74648236-74648237	Weak transcription Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563499256	chr15:74648262-74648263	Weak transcription Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs116264489	chr15:74648340-74648341	Weak transcription Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149659142	chr15:74648386-74648387	Weak transcription Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183147389	chr15:74648457-74648458	Weak transcription Active TSS ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548043821	chr15:74648467-74648468	Weak transcription Active TSS ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187818778	chr15:74648486-74648487	Weak transcription Active TSS ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376013683	chr15:74648487-74648488	Weak transcription Active TSS ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546946910	chr15:74648495-74648496	Weak transcription Active TSS ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530741270	chr15:74648500-74648501	Weak transcription Active TSS ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144443213	chr15:74648501-74648502	Weak transcription Active TSS ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs75377406	chr15:74648508-74648509	Weak transcription Active TSS ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539473861	chr15:74648584-74648585	Weak transcription Active TSS ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554841823	chr15:74648621-74648622	Weak transcription Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569860531	chr15:74648728-74648729	Weak transcription Active TSS Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs142561493	chr15:74648735-74648736	Weak transcription Active TSS Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs372940919	chr15:74648744-74648745	Weak transcription Active TSS Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs577030601	chr15:74648817-74648818	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540691583	chr15:74648839-74648840	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552885722	chr15:74648867-74648868	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574457508	chr15:74648901-74648902	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs56339065	chr15:74648946-74648947	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs563568609	chr15:74649016-74649017	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535257911	chr15:74649082-74649083	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545955212	chr15:74649116-74649117	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs555232499	chr15:74649144-74649145	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs115544860	chr15:74649177-74649178	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528738373	chr15:74649190-74649191	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546689664	chr15:74649260-74649261	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568435422	chr15:74649261-74649262	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs11072479	chr15:74649262-74649263	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs146747795	chr15:74649273-74649274	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190351606	chr15:74649338-74649339	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537256770	chr15:74649391-74649392	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs140396463	chr15:74649489-74649490	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570658456	chr15:74649513-74649514	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534876588	chr15:74649588-74649589	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552733521	chr15:74649624-74649625	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183701526	chr15:74649625-74649626	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs150183240	chr15:74649642-74649643	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs188571926	chr15:74649643-74649644	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574967043	chr15:74649648-74649649	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545992304	chr15:74649688-74649689	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564664955	chr15:74649710-74649711	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528827146	chr15:74649735-74649736	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192898199	chr15:74649756-74649757	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184905053	chr15:74649766-74649767	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Congenital diaphragmatic hernia	21085971	CNVD
Prostate cancer	16573809	CNVD
Autism	17322880	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
Breast cancer	21364760	CNVD
Epilepsy	22083797	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bipolar disorder	19114987	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74612000-74657800	Weak transcription	Right Atrium	heart
2	chr15:74642200-74653800	Weak transcription	Ovary	ovary
3	chr15:74644200-74650200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr15:74644200-74656800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:74646000-74649200	Weak transcription	Hela-S3	cervix
6	chr15:74646200-74650200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr15:74647200-74648600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
8	chr15:74647200-74648800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr15:74647200-74654400	Enhancers	Placenta	Placenta
10	chr15:74647400-74650200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr15:74647800-74648400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr15:74648000-74649800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr15:74648400-74650600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr15:74648600-74649600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr15:74648800-74656800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr15:74649000-74650200	Enhancers	Esophagus	oesophagus
17	chr15:74649200-74651000	Enhancers	Hela-S3	cervix
18	chr15:74649400-74650400	Enhancers	HSMMtube	muscle
19	chr15:74649600-74652200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr15:74649800-74650000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr15:74649800-74650000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
22	chr15:74649800-74652200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr15:74650200-74650400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr15:74650200-74651000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr15:74650200-74651200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr15:74650200-74652200	Enhancers	H1 Cell Line	embryonic stem cell
27	chr15:74650200-74652200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr15:74650200-74652600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr15:74650200-74652600	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr15:74650400-74651600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr15:74650400-74653600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr15:74650400-74653600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr15:74650600-74650800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr15:74650600-74652400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr15:74650800-74652200	Enhancers	H9 Cell Line	embryonic stem cell
36	chr15:74650800-74652200	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr15:74650800-74652600	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr15:74651000-74652000	Weak transcription	Hela-S3	cervix
39	chr15:74651000-74657000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr15:74651400-74652400	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr15:74651600-74656200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr15:74652000-74652600	Enhancers	Hela-S3	cervix
43	chr15:74652000-74652800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr15:74652200-74656600	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr15:74652200-74656600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr15:74652200-74656800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr15:74652400-74654200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr15:74652600-74652800	Flanking Active TSS	Hela-S3	cervix
49	chr15:74652600-74656600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr15:74652800-74653000	Enhancers	Hela-S3	cervix

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