Variant report

Variant	nsv997787
Chromosome Location	chr4:95859839-95934105
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	CEBPB	chr4:95875441-95875776	A549	lung:	n/a	chr4:95875613-95875624
2	CEBPB	chr4:95875376-95875762	MCF-7	breast:	n/a	chr4:95875613-95875624
3	CEBPB	chr4:95875481-95875784	IMR90	lung:	n/a	chr4:95875613-95875624
4	CEBPB	chr4:95895996-95896300	A549	lung:	n/a	n/a
5	CEBPB	chr4:95887000-95887306	A549	lung:	n/a	n/a
6	CEBPB	chr4:95875300-95875781	MCF-7	breast:	n/a	chr4:95875613-95875624
7	CEBPB	chr4:95902399-95902420	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr4:95875563-95875749	H1-hESC	embryonic stem cell:	n/a	chr4:95875613-95875624
9	CEBPB	chr4:95891859-95892112	HepG2	liver:	n/a	chr4:95891963-95891974
10	CEBPB	chr4:95875431-95875778	A549	lung:	n/a	chr4:95875613-95875624
11	CEBPB	chr4:95920920-95921132	A549	lung:	n/a	chr4:95921098-95921109
12	CEBPB	chr4:95875466-95875801	ECC-1	luminal epithelium:	n/a	chr4:95875613-95875624
13	CEBPB	chr4:95875499-95875744	K562	blood:	n/a	chr4:95875613-95875624
14	CEBPB	chr4:95891809-95892222	MCF-7	breast:	n/a	chr4:95891963-95891974
15	CEBPB	chr4:95926862-95927013	K562	blood:	n/a	chr4:95926913-95926924 chr4:95926913-95926924 chr4:95926908-95926925
16	CEBPB	chr4:95896021-95896221	IMR90	lung:	n/a	n/a
17	CEBPB	chr4:95875361-95875860	A549	lung:	n/a	chr4:95875613-95875624
18	CEBPB	chr4:95891834-95892108	Hela-S3	cervix:	n/a	chr4:95891963-95891974
19	CEBPB	chr4:95886946-95887428	A549	lung:	n/a	n/a
20	CEBPB	chr4:95904516-95904550	HepG2	liver:	n/a	n/a
21	CEBPB	chr4:95875431-95875805	HepG2	liver:	n/a	chr4:95875613-95875624
22	CEBPB	chr4:95898952-95899093	H1-hESC	embryonic stem cell:	n/a	n/a
23	CEBPB	chr4:95891808-95892198	A549	lung:	n/a	chr4:95891963-95891974
24	CEBPB	chr4:95891745-95892333	A549	lung:	n/a	chr4:95891963-95891974
25	CEBPB	chr4:95921013-95921138	HepG2	liver:	n/a	chr4:95921098-95921109
26	CEBPB	chr4:95891763-95892148	A549	lung:	n/a	chr4:95891963-95891974
27	CEBPB	chr4:95891778-95892152	MCF-7	breast:	n/a	chr4:95891963-95891974
28	CTCF	chr4:95894100-95894250	GM12869	blood:	n/a	n/a
29	CTCF	chr4:95868860-95869010	MCF-7	breast:	n/a	n/a
30	CTCF	chr4:95868880-95869030	HMEC	breast:	n/a	n/a
31	CTCF	chr4:95868900-95869050	HRE	kidney:	n/a	n/a
32	CTCF	chr4:95894020-95894170	A549	lung:	n/a	n/a
33	CTCF	chr4:95870369-95870404	GM10266	blood:	n/a	n/a
34	CTCF	chr4:95889340-95889490	A549	lung:	n/a	n/a
35	CTCF	chr4:95868860-95869010	WI-38	lung:	n/a	n/a
36	CTCF	chr4:95889260-95889410	HCM	heart:	n/a	n/a
37	CTCF	chr4:95904780-95904930	AG09309	skin:	n/a	n/a
38	CTCF	chr4:95872851-95872936	GM20000	blood:	n/a	n/a
39	CTCF	chr4:95868980-95869130	HEEpiC	esophagus:	n/a	n/a
40	CTCF	chr4:95902980-95903130	HCPEpiC	choroid plexus:	n/a	n/a
41	CTCF	chr4:95925061-95925174	Kidney_OC	kidney:	n/a	n/a
42	CTCF	chr4:95868860-95869010	HepG2	liver:	n/a	n/a
43	CTCF	chr4:95868900-95869050	NHEK	skin:	n/a	n/a
44	CTCF	chr4:95872843-95872850	GM20000	blood:	n/a	n/a
45	CTCF	chr4:95868980-95869130	A549	lung:	n/a	n/a
46	CTCF	chr4:95904161-95904195	Lung_OC	lung:	n/a	n/a
47	CTCF	chr4:95868960-95869110	SAEC	small airway:	n/a	n/a
48	CTCF	chr4:95931042-95931119	Hela-S3	cervix:	n/a	chr4:95931076-95931097
49	CTCF	chr4:95868900-95869050	HEEpiC	esophagus:	n/a	n/a
50	CTCF	chr4:95894147-95894191	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:95877704..95879988-chr4:95889895..95892478,2	K562	blood:
2	chr4:95930676..95931407-chr4:96015895..96017114,4	MCF-7	breast:
3	chr4:95912061..95914592-chr4:96007501..96009488,2	MCF-7	breast:
4	chr4:95924834..95926933-chr4:95930140..95932231,2	K562	blood:
5	chr4:95894975..95897109-chr4:95919263..95921019,2	K562	blood:
6	chr4:95877704..95879988-chr4:95889895..95892478,2	K562	blood:
7	chr4:95924834..95926933-chr4:95930140..95932231,2	K562	blood:
8	chr4:95915803..95916373-chr4:96014810..96015711,2	MCF-7	breast:
9	chr4:95894975..95897109-chr4:95919263..95921019,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UNC5C-3	chr4:95897568-95898073	l_2688_chr4:95883855-95898073_testes
2	lnc-UNC5C-3	chr4:95883856-95884268	l_2688_chr4:95883855-95898073_testes
3	lnc-UNC5C-3	chr4:95895004-95895079	l_2688_chr4:95883855-95898073_testes

Variant related genes	Relation type
BMPR1B	TF binding region

Extended variants
information (count: 2547 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:2547 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527699816	chr4:95859841-95859842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545011510	chr4:95859897-95859898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541077567	chr4:95859912-95859913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7671870	chr4:95859913-95859914	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs530171204	chr4:95859915-95859916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561053947	chr4:95859963-95859964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549944719	chr4:95860052-95860053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569779243	chr4:95860070-95860071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531339884	chr4:95860087-95860088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368014637	chr4:95860090-95860091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532419172	chr4:95860091-95860092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375850946	chr4:95860107-95860108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372288680	chr4:95860177-95860178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529571952	chr4:95860180-95860181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187081063	chr4:95860221-95860222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554645708	chr4:95860299-95860300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550324898	chr4:95860360-95860361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536777628	chr4:95860390-95860391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565382262	chr4:95860418-95860419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556705213	chr4:95860422-95860423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs146477332	chr4:95860424-95860425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545657153	chr4:95860435-95860436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs34442853	chr4:95860530-95860531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530667126	chr4:95860534-95860535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558825116	chr4:95860546-95860547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190700543	chr4:95860565-95860566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs149091898	chr4:95860589-95860590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113485523	chr4:95860590-95860591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560991227	chr4:95860655-95860656	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs60826912	chr4:95860802-95860803	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs575718158	chr4:95860803-95860804	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs543586247	chr4:95860807-95860808	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs563461849	chr4:95860875-95860876	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs532211828	chr4:95860901-95860902	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs183154749	chr4:95860936-95860937	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs143161492	chr4:95860967-95860968	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs373648001	chr4:95861017-95861018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528442417	chr4:95861062-95861063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs151225182	chr4:95861088-95861089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs371450878	chr4:95861104-95861105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs566034280	chr4:95861136-95861137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546612879	chr4:95861163-95861164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536668215	chr4:95861195-95861196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs60880149	chr4:95861196-95861197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs57001187	chr4:95861201-95861202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186080338	chr4:95861207-95861208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550426871	chr4:95861232-95861233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190402471	chr4:95861335-95861336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs7683985	chr4:95861370-95861371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs558764498	chr4:95861386-95861387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:458 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95849200-95861600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:95850800-95861000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:95853200-95860800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr4:95856000-95860800	Weak transcription	HUVEC	blood vessel
5	chr4:95856800-95861200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:95857000-95860600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr4:95857000-95860800	Weak transcription	Osteobl	bone
8	chr4:95857400-95861200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr4:95858400-95860200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr4:95858600-95860800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:95858600-95861400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:95858800-95860400	Weak transcription	A549	lung
13	chr4:95860200-95862000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr4:95860400-95860600	Enhancers	A549	lung
15	chr4:95860600-95861000	Flanking Active TSS	A549	lung
16	chr4:95860600-95861600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:95860800-95861200	Enhancers	Hela-S3	cervix
18	chr4:95860800-95861400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr4:95860800-95861400	Enhancers	HUVEC	blood vessel
20	chr4:95860800-95861600	Enhancers	Osteobl	bone
21	chr4:95860800-95861800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:95860800-95861800	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr4:95860800-95862000	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr4:95861000-95862000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr4:95861000-95862200	Enhancers	A549	lung
26	chr4:95861200-95861400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr4:95861200-95861600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:95861200-95862400	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr4:95861400-95862200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr4:95861400-95862400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr4:95861600-95862200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:95862200-95864600	Weak transcription	A549	lung
33	chr4:95864600-95865000	Enhancers	A549	lung
34	chr4:95865000-95868600	Weak transcription	A549	lung
35	chr4:95867600-95870200	Enhancers	Placenta Amnion	Placenta Amnion
36	chr4:95868000-95869000	Enhancers	Pancreas	Pancrea
37	chr4:95868200-95868600	Enhancers	NHEK	skin
38	chr4:95868200-95869000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr4:95868400-95868800	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr4:95868600-95869000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr4:95868600-95869000	Flanking Active TSS	NHEK	skin
42	chr4:95868600-95869200	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr4:95868600-95869600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr4:95868600-95869600	Enhancers	A549	lung
45	chr4:95868800-95869800	Enhancers	HMEC	breast
46	chr4:95869000-95869200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr4:95869000-95869400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr4:95869000-95869800	Enhancers	NHEK	skin
49	chr4:95869200-95870000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr4:95875400-95875800	Enhancers	A549	lung

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