Variant report

Variant	nsv1050526
Chromosome Location	chr15:35418676-35437841
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	chr15:35434188-35434401	K562	blood:	n/a	n/a
2	ATF2	chr15:35428622-35429445	GM12878	blood:	n/a	n/a
3	ATF2	chr15:35428520-35429288	GM12878	blood:	n/a	n/a
4	BATF	chr15:35434160-35434365	GM12878	blood:	n/a	chr15:35434263-35434274
5	BATF	chr15:35428660-35429239	GM12878	blood:	n/a	n/a
6	BCL11A	chr15:35428671-35429303	GM12878	blood:	n/a	n/a
7	BCL11A	chr15:35428753-35429151	GM12878	blood:	n/a	n/a
8	BCLAF1	chr15:35428627-35429395	GM12878	blood:	n/a	n/a
9	BCLAF1	chr15:35428769-35429265	GM12878	blood:	n/a	n/a
10	BHLHE40	chr15:35428641-35429361	GM12878	blood:	n/a	n/a
11	CEBPB	chr15:35422564-35422784	IMR90	lung:	n/a	n/a
12	CEBPB	chr15:35434011-35434827	Hela-S3	cervix:	n/a	chr15:35434253-35434266 chr15:35434161-35434174
13	CEBPB	chr15:35425361-35425435	H1-hESC	embryonic stem cell:	n/a	n/a
14	CEBPB	chr15:35434044-35434812	IMR90	lung:	n/a	chr15:35434253-35434266 chr15:35434161-35434174
15	CEBPB	chr15:35434070-35434406	K562	blood:	n/a	chr15:35434253-35434266 chr15:35434161-35434174
16	CEBPB	chr15:35434069-35434411	HepG2	liver:	n/a	chr15:35434253-35434266 chr15:35434161-35434174
17	CEBPB	chr15:35434187-35434309	K562	blood:	n/a	chr15:35434253-35434266
18	CEBPB	chr15:35428649-35429276	GM12878	blood:	n/a	n/a
19	CEBPB	chr15:35434071-35434706	K562	blood:	n/a	chr15:35434253-35434266 chr15:35434161-35434174
20	CEBPB	chr15:35435515-35435666	H1-hESC	embryonic stem cell:	n/a	n/a
21	CEBPB	chr15:35434016-35434470	A549	lung:	n/a	chr15:35434253-35434266 chr15:35434161-35434174
22	CEBPB	chr15:35434095-35434761	A549	lung:	n/a	chr15:35434253-35434266 chr15:35434161-35434174
23	CHD2	chr15:35434159-35434547	Hela-S3	cervix:	n/a	n/a
24	CHD2	chr15:35428763-35429467	GM12878	blood:	n/a	n/a
25	CREB1	chr15:35428765-35429247	GM12878	blood:	n/a	n/a
26	CTCF	chr15:35435080-35435230	BJ	skin:	n/a	n/a
27	CUX1	chr15:35428629-35429408	GM12878	blood:	n/a	n/a
28	CUX1	chr15:35433768-35434440	K562	blood:	n/a	n/a
29	E2F4	chr15:35433998-35434731	MCF10A-Er-Src	breast:	n/a	n/a
30	EBF1	chr15:35428631-35429347	GM12878	blood:	n/a	n/a
31	EBF1	chr15:35428699-35429242	GM12878	blood:	n/a	n/a
32	EBF1	chr15:35434333-35434564	GM12878	blood:	n/a	n/a
33	EBF1	chr15:35428765-35429213	GM12878	blood:	n/a	n/a
34	EP300	chr15:35434025-35434628	Hela-S3	cervix:	n/a	chr15:35434267-35434276 chr15:35434486-35434496
35	EP300	chr15:35434276-35434476	GM12878	blood:	n/a	n/a
36	EP300	chr15:35434252-35434412	GM12878	blood:	n/a	chr15:35434267-35434276
37	EP300	chr15:35434347-35434697	SK-N-SH_RA	brain:	n/a	chr15:35434486-35434496
38	EP300	chr15:35419745-35420527	SK-N-SH	brain:	n/a	n/a
39	EP300	chr15:35434240-35434621	K562	blood:	n/a	chr15:35434267-35434276 chr15:35434486-35434496
40	EP300	chr15:35428814-35429103	GM12878	blood:	n/a	n/a
41	EP300	chr15:35428681-35429184	GM12878	blood:	n/a	n/a
42	EP300	chr15:35428673-35429370	GM12878	blood:	n/a	n/a
43	EP300	chr15:35428655-35429477	GM12878	blood:	n/a	n/a
44	EP300	chr15:35434050-35434400	GM12878	blood:	n/a	chr15:35434267-35434276
45	EP300	chr15:35434317-35434628	SK-N-SH_RA	brain:	n/a	chr15:35434486-35434496
46	EP300	chr15:35428712-35429174	GM12878	blood:	n/a	n/a
47	FOS	chr15:35433521-35434495	MCF10A-Er-Src	breast:	n/a	chr15:35433704-35433713 chr15:35433703-35433713 chr15:35433705-35433712 chr15:35433702-35433714 chr15:35433700-35433711 chr15:35433704-35433712 chr15:35434267-35434274 chr15:35434267-35434275 chr15:35434267-35434275
48	FOS	chr15:35434085-35434461	Hela-S3	cervix:	n/a	chr15:35434267-35434274 chr15:35434267-35434275 chr15:35434267-35434275
49	FOS	chr15:35434076-35434479	MCF10A-Er-Src	breast:	n/a	chr15:35434267-35434274 chr15:35434267-35434275 chr15:35434267-35434275
50	FOS	chr15:35432163-35432381	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:35422346-35422396	GM06990	blood:	n/a
2	chr15:35422346-35422396	HEK293	kidney:	embryo
3	chr15:35422346-35422396	HNPCEpiC	eye:	n/a
4	chr15:35422346-35422396	ECC-1	luminal epithelium:	n/a
5	chr15:35422346-35422396	NHDF-neo	bronchial:	n/a
6	chr15:35422346-35422396	ovcar-3	ovarian:	n/a
7	chr15:35422346-35422396	HepG2	liver:	n/a
8	chr15:35422346-35422396	GM12878	blood:	n/a
9	chr15:35422346-35422396	AG09309	skin:	n/a
10	chr15:35422346-35422396	PrEC	prostate:	n/a
11	chr15:35422346-35422396	MCF-7	breast:	n/a
12	chr15:35422346-35422396	Hepatocyte	liver:	n/a
13	chr15:35422346-35422396	K562	blood:	n/a
14	chr15:35422346-35422396	AoSMC	blood vessel:	n/a
15	chr15:35422346-35422396	SKMC	muscle:	n/a
16	chr15:35422346-35422396	T-47D	breast:	n/a
17	chr15:35422346-35422396	Caco-2	colon:	n/a
18	chr15:35422346-35422396	U87	brain:	n/a
19	chr15:35422346-35422396	HAEpiC	amniotic membrane:	n/a
20	chr15:35422346-35422396	AG04449	skin:	fetal
21	chr15:35422346-35422396	SK-N-MC	brain:	n/a
22	chr15:35422346-35422396	GM12891	blood:	n/a
23	chr15:35422346-35422396	GM12892	blood:	n/a
24	chr15:35422346-35422396	AG04450	lung:	fetal
25	chr15:35422346-35422396	LNCaP	prostate:	n/a
26	chr15:35422346-35422396	HMEC	breast:	n/a
27	chr15:35422346-35422396	BE2_C	brain:	n/a
28	chr15:35422346-35422396	Hela-S3	cervix:	n/a
29	chr15:35422346-35422396	CMK	blood:	n/a
30	chr15:35422346-35422396	A549	lung:	n/a
31	chr15:35422346-35422396	SK-N-SH_RA	brain:	n/a
32	chr15:35422346-35422396	NH-A	brain:	n/a
33	chr15:35422346-35422396	HRPEpiC	eye:	n/a
34	chr15:35422346-35422396	HEEpiC	esophagus:	n/a
35	chr15:35422346-35422396	GM19239	blood:	n/a
36	chr15:35422346-35422396	HRE	kidney:	n/a
37	chr15:35422346-35422396	HCF	heart:	n/a
38	chr15:35422346-35422396	BJ	skin:	n/a
39	chr15:35422346-35422396	HIPEpiC	eye:	n/a
40	chr15:35422346-35422396	HPAEpiC	pulmonary alveolar:	n/a
41	chr15:35422346-35422396	PFSK-1	brain:	n/a
42	chr15:35422346-35422396	HRCEpiC	kidney:	n/a
43	chr15:35422346-35422396	ProgFib	skin:	n/a
44	chr15:35422346-35422396	SAEC	small airway:	n/a
45	chr15:35422346-35422396	HCM	heart:	n/a
46	chr15:35422346-35422396	AG09319	gingival:	n/a
47	chr15:35422346-35422396	NHBE	bronchial:	n/a
48	chr15:35422346-35422396	H1-hESC	embryonic stem cell:	embryo
49	chr15:35422346-35422396	RPTEC	kidney:	n/a
50	chr15:35422346-35422396	Jurkat	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:35434378..35436303-chr15:35436631..35438983,2	K562	blood:
2	chr15:35417869..35419650-chr15:35428948..35431359,2	K562	blood:
3	chr15:35420327..35422803-chr15:35443620..35446127,2	K562	blood:
4	chr15:35417869..35419650-chr15:35428948..35431359,2	K562	blood:
5	chr15:35434378..35436303-chr15:35436631..35438983,2	K562	blood:

Variant related genes	Relation type
PRELID1P4	TF binding region
PRELID1P4	CpG island

Extended variants
information (count: 658 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:658 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571670177	chr15:35418700-35418701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369034156	chr15:35418747-35418748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570630535	chr15:35418794-35418795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540311178	chr15:35418800-35418801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191051436	chr15:35418807-35418808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532136780	chr15:35418818-35418819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550597021	chr15:35418922-35418923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537484469	chr15:35418934-35418935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183219225	chr15:35419019-35419020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114093533	chr15:35419041-35419042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548464508	chr15:35419042-35419043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567031440	chr15:35419072-35419073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534155577	chr15:35419094-35419095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373453249	chr15:35419146-35419147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs58701197	chr15:35419154-35419155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552241091	chr15:35419156-35419157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114547651	chr15:35419230-35419231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537804385	chr15:35419233-35419234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534586364	chr15:35419255-35419256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556533633	chr15:35419299-35419300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34026949	chr15:35419322-35419323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374765265	chr15:35419381-35419382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569024180	chr15:35419431-35419432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143738020	chr15:35419512-35419513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs62005147	chr15:35419524-35419525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554596494	chr15:35419534-35419535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs117843236	chr15:35419547-35419548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4924550	chr15:35419569-35419570	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs147209707	chr15:35419620-35419621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577021626	chr15:35419621-35419622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs28552390	chr15:35419645-35419646	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs140527662	chr15:35419667-35419668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187701752	chr15:35419715-35419716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557044703	chr15:35419724-35419725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376542289	chr15:35419733-35419734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376067967	chr15:35419835-35419836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567788589	chr15:35419871-35419872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191424461	chr15:35419873-35419874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560451621	chr15:35419879-35419880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527874058	chr15:35419899-35419900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552353713	chr15:35419911-35419912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149713024	chr15:35419965-35419966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531708872	chr15:35420021-35420022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549880943	chr15:35420030-35420031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575398370	chr15:35420050-35420051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185077112	chr15:35420073-35420074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145529887	chr15:35420081-35420082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566820029	chr15:35420082-35420083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148426112	chr15:35420099-35420100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142534201	chr15:35420148-35420149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	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
Colorectal cancer	16774939	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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	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
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Abnormal corpus callosum	21572526	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	17440070	CNVD
Basal cell lymphoma	17053054	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:35413200-35419400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:35414000-35431000	Weak transcription	Aorta	Aorta
3	chr15:35419400-35419600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr15:35422400-35423000	Enhancers	Fetal Heart	heart
5	chr15:35422400-35423000	Enhancers	Fetal Lung	lung
6	chr15:35423000-35428800	Weak transcription	Fetal Lung	lung
7	chr15:35425800-35426000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr15:35426000-35426600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr15:35426400-35426600	Enhancers	Fetal Intestine Small	intestine
10	chr15:35426400-35427000	Enhancers	K562	blood
11	chr15:35426600-35426800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr15:35426800-35433400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr15:35428000-35428600	Enhancers	GM12878-XiMat	blood
14	chr15:35428600-35429200	Enhancers	Fetal Heart	heart
15	chr15:35428600-35429400	Enhancers	Fetal Stomach	stomach
16	chr15:35428600-35430000	Flanking Active TSS	GM12878-XiMat	blood
17	chr15:35428800-35429000	Enhancers	Fetal Intestine Large	intestine
18	chr15:35428800-35429000	Enhancers	Ovary	ovary
19	chr15:35428800-35429400	Enhancers	Fetal Intestine Small	intestine
20	chr15:35428800-35429400	Enhancers	Fetal Lung	lung
21	chr15:35428800-35429400	Enhancers	Fetal Muscle Leg	muscle
22	chr15:35428800-35429400	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr15:35429000-35433800	Weak transcription	Fetal Intestine Large	intestine
24	chr15:35429000-35434800	Weak transcription	Ovary	ovary
25	chr15:35429200-35432000	Weak transcription	Fetal Heart	heart
26	chr15:35429400-35433000	Weak transcription	Fetal Intestine Small	intestine
27	chr15:35429400-35433000	Weak transcription	Fetal Lung	lung
28	chr15:35429400-35433000	Weak transcription	Fetal Stomach	stomach
29	chr15:35429600-35434800	Weak transcription	Left Ventricle	heart
30	chr15:35430000-35430200	Enhancers	GM12878-XiMat	blood
31	chr15:35431000-35431200	ZNF genes & repeats	Aorta	Aorta
32	chr15:35431000-35431200	ZNF genes & repeats	Esophagus	oesophagus
33	chr15:35431000-35431200	ZNF genes & repeats	Fetal Muscle Trunk	muscle
34	chr15:35431200-35431600	Weak transcription	Fetal Muscle Trunk	muscle
35	chr15:35431200-35431800	Weak transcription	Esophagus	oesophagus
36	chr15:35431200-35451800	Weak transcription	Aorta	Aorta
37	chr15:35432600-35433000	Enhancers	Osteobl	bone
38	chr15:35432800-35434800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr15:35433000-35433400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr15:35433000-35433400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr15:35433000-35433400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr15:35433000-35433400	Weak transcription	Osteobl	bone
43	chr15:35433000-35435200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr15:35433000-35435200	Enhancers	Fetal Stomach	stomach
45	chr15:35433000-35435400	Enhancers	Adipose Nuclei	Adipose
46	chr15:35433000-35435400	Enhancers	Fetal Lung	lung
47	chr15:35433000-35435600	Enhancers	Fetal Intestine Small	intestine
48	chr15:35433000-35435600	Enhancers	NHDF-Ad	bronchial
49	chr15:35433000-35435800	Enhancers	NHLF	lung
50	chr15:35433200-35433400	Enhancers	HUES64 Cell Line	embryonic stem cell

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