Variant report

Variant	nsv427688
Chromosome Location	chr4:93680331-93830824
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	BACH1	chr4:93728575-93728662	K562	blood:	n/a	n/a
2	CEBPB	chr4:93730580-93730850	K562	blood:	n/a	chr4:93730724-93730735 chr4:93730738-93730749
3	CEBPB	chr4:93795868-93796039	IMR90	lung:	n/a	chr4:93795963-93795974
4	CEBPB	chr4:93796324-93796523	HepG2	liver:	n/a	chr4:93796369-93796380
5	CEBPB	chr4:93681975-93682265	A549	lung:	n/a	chr4:93682086-93682097
6	CEBPB	chr4:93684631-93684724	HepG2	liver:	n/a	chr4:93684658-93684669
7	CEBPB	chr4:93730558-93730864	MCF-7	breast:	n/a	chr4:93730724-93730735 chr4:93730738-93730749
8	CEBPB	chr4:93796260-93796522	H1-hESC	embryonic stem cell:	n/a	chr4:93796369-93796380
9	CEBPB	chr4:93730571-93730943	ECC-1	luminal epithelium:	n/a	chr4:93730724-93730735 chr4:93730738-93730749
10	CEBPB	chr4:93806171-93806461	HepG2	liver:	n/a	n/a
11	CEBPB	chr4:93689167-93689298	H1-hESC	embryonic stem cell:	n/a	chr4:93689218-93689229
12	CEBPB	chr4:93730575-93730933	A549	lung:	n/a	chr4:93730724-93730735 chr4:93730738-93730749
13	CEBPB	chr4:93730552-93730878	ECC-1	luminal epithelium:	n/a	chr4:93730724-93730735 chr4:93730738-93730749
14	CEBPB	chr4:93753510-93753717	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr4:93730571-93730930	Hela-S3	cervix:	n/a	chr4:93730724-93730735 chr4:93730738-93730749
16	CEBPB	chr4:93730582-93730952	MCF-7	breast:	n/a	chr4:93730724-93730735 chr4:93730738-93730749
17	CEBPB	chr4:93730562-93730917	H1-hESC	embryonic stem cell:	n/a	chr4:93730724-93730735 chr4:93730738-93730749
18	CEBPB	chr4:93681954-93682242	HepG2	liver:	n/a	chr4:93682086-93682097
19	CEBPB	chr4:93689119-93689335	K562	blood:	n/a	chr4:93689218-93689229
20	CEBPB	chr4:93684639-93684709	A549	lung:	n/a	chr4:93684658-93684669
21	CEBPB	chr4:93730570-93730923	HepG2	liver:	n/a	chr4:93730724-93730735 chr4:93730738-93730749
22	CEBPB	chr4:93744766-93744818	K562	blood:	n/a	chr4:93744785-93744794 chr4:93744785-93744794 chr4:93744785-93744794 chr4:93744785-93744796 chr4:93744785-93744794 chr4:93744783-93744796
23	CEBPB	chr4:93795845-93796108	HepG2	liver:	n/a	chr4:93795963-93795974
24	CEBPB	chr4:93730554-93730928	IMR90	lung:	n/a	chr4:93730724-93730735 chr4:93730738-93730749
25	CTCF	chr4:93813258-93813292	GM13976	blood:	n/a	n/a
26	CTCF	chr4:93735940-93736090	HMEC	breast:	n/a	n/a
27	CTCF	chr4:93746868-93746973	GM20000	blood:	n/a	n/a
28	CTCF	chr4:93807280-93807430	MCF-7	breast:	n/a	n/a
29	CTCF	chr4:93682740-93682890	GM12872	blood:	n/a	n/a
30	CTCF	chr4:93805041-93805254	GM12878	blood:	n/a	n/a
31	CTCF	chr4:93802078-93802118	Kidney_OC	kidney:	n/a	n/a
32	CTCF	chr4:93735920-93736070	GM06990	blood:	n/a	n/a
33	CTCF	chr4:93781063-93781091	Medullo	brain:	n/a	n/a
34	CTCF	chr4:93781000-93781150	GM12873	blood:	n/a	n/a
35	CTCF	chr4:93758511-93758537	GM13976	blood:	n/a	n/a
36	CTCF	chr4:93735980-93736130	Caco-2	colon:	n/a	n/a
37	CTCF	chr4:93781016-93781216	GM12878	blood:	n/a	n/a
38	CTCF	chr4:93820547-93820599	GM13976	blood:	n/a	n/a
39	CTCF	chr4:93780940-93781090	WERI-Rb-1	eye:	n/a	n/a
40	E2F4	chr4:93707534-93707594	MCF10A-Er-Src	breast:	n/a	n/a
41	E2F4	chr4:93727578-93727768	MCF10A-Er-Src	breast:	n/a	n/a
42	E2F4	chr4:93760978-93760979	MCF10A-Er-Src	breast:	n/a	n/a
43	E2F4	chr4:93719778-93719901	MCF10A-Er-Src	breast:	n/a	n/a
44	E2F4	chr4:93732290-93732367	MCF10A-Er-Src	breast:	n/a	n/a
45	E2F4	chr4:93705879-93706231	MCF10A-Er-Src	breast:	n/a	n/a
46	EBF1	chr4:93683418-93683616	GM12878	blood:	n/a	n/a
47	FAM48A	chr4:93710960-93711039	GM12878	blood:	n/a	n/a
48	FAM48A	chr4:93762160-93762230	GM12878	blood:	n/a	n/a
49	FOS	chr4:93697280-93697821	HUVEC	blood vessel:	n/a	n/a
50	FOS	chr4:93792581-93792936	MCF10A-Er-Src	breast:	n/a	chr4:93792888-93792898 chr4:93792888-93792898

No.	Distal block	Cell Line	Cell type
1	chr4:93679131..93681725-chr4:93686462..93688437,2	K562	blood:
2	chr4:93679131..93681725-chr4:93686462..93688437,2	K562	blood:
3	chr4:93827426..93829042-chr4:93829198..93830745,2	K562	blood:
4	chr4:93679723..93682037-chr4:93683419..93685148,2	K562	blood:
5	chr4:93757984..93759775-chr4:93817140..93819795,2	MCF-7	breast:
6	chr4:93827426..93829042-chr4:93829198..93830745,2	K562	blood:
7	chr4:93825096..93827296-chr4:93828128..93830318,2	K562	blood:
8	chr4:93757984..93759775-chr4:93817140..93819795,2	MCF-7	breast:
9	chr4:93773449..93776266-chr4:93779103..93780772,2	MCF-7	breast:
10	chr4:93825096..93827296-chr4:93828128..93830318,2	K562	blood:
11	chr4:93679723..93682037-chr4:93683419..93685148,2	K562	blood:
12	chr4:93773449..93776266-chr4:93779103..93780772,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-9B6.1.1-2	chr4:93759934-93759993	ENSG00000248627.1
2	lnc-RP11-9B6.1.1-6	chr4:93743137-93744069	NONHSAT097434
3	lnc-RP11-9B6.1.1-2	chr4:93754836-93755124	ENSG00000248627.1
4	lnc-ATOH1-1	chr4:93805814-93806258	NONHSAT097436

Variant related genes	Relation type
ENSG00000248750	TF binding region
GRID2	TF binding region
ENSG00000249239	TF binding region
ENSG00000248627	TF binding region

Extended variants
information (count: 5126 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:5126 , 50 per page) page: 1 2 3 4 5 6 7 ... 103

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544996405	chr4:93680331-93680332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550115127	chr4:93680410-93680411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563737980	chr4:93680427-93680428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185396256	chr4:93680439-93680440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368815617	chr4:93680513-93680514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567082687	chr4:93680515-93680516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535644671	chr4:93680521-93680522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549514798	chr4:93680613-93680614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77753505	chr4:93680628-93680629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144703594	chr4:93680632-93680633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558227723	chr4:93680642-93680643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531191687	chr4:93680650-93680651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577947858	chr4:93680665-93680666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs151258449	chr4:93680677-93680678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551587013	chr4:93680700-93680701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200611696	chr4:93680762-93680763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188696004	chr4:93680786-93680787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs180868737	chr4:93680797-93680798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541586465	chr4:93680874-93680875	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566590328	chr4:93680888-93680889	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376705750	chr4:93680913-93680914	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139253016	chr4:93680914-93680915	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185966531	chr4:93680930-93680931	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199746322	chr4:93680938-93680939	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201104232	chr4:93680939-93680940	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371610582	chr4:93680942-93680943	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547294313	chr4:93680947-93680948	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74595635	chr4:93680950-93680951	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560588811	chr4:93681037-93681038	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529499948	chr4:93681054-93681055	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567760221	chr4:93681080-93681081	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549551679	chr4:93681088-93681089	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569468239	chr4:93681111-93681112	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544602907	chr4:93681130-93681131	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538381305	chr4:93681147-93681148	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149971583	chr4:93681154-93681155	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571640452	chr4:93681162-93681163	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192121512	chr4:93681164-93681165	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183943209	chr4:93681175-93681176	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533908797	chr4:93681188-93681189	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542818093	chr4:93681264-93681265	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185978245	chr4:93681293-93681294	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190579362	chr4:93681342-93681343	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533013753	chr4:93681375-93681376	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183181712	chr4:93681406-93681407	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377627616	chr4:93681413-93681414	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555184184	chr4:93681471-93681472	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374846415	chr4:93681476-93681477	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577898040	chr4:93681537-93681538	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575081511	chr4:93681555-93681556	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Chronic lymphocytic leukemia	18922857	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
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	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
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	20841430	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:155 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:93636000-93687200	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr4:93662200-93680800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr4:93679000-93682600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:93680000-93690400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr4:93680200-93688200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr4:93680400-93690200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:93680800-93681800	Strong transcription	H1 Cell Line	embryonic stem cell
8	chr4:93681400-93681800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:93681400-93681800	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr4:93681400-93682000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:93681400-93682800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:93681800-93682600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:93681800-93686600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr4:93682000-93682400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:93682400-93682800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:93682600-93682800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:93682600-93682800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr4:93682800-93685200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:93685000-93689600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr4:93685200-93685400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:93685200-93685400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr4:93685200-93685600	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr4:93685400-93688000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:93686600-93687400	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr4:93687200-93689200	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr4:93687400-93689600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr4:93687800-93688200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr4:93688000-93688800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr4:93688200-93688400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr4:93688200-93688600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
31	chr4:93688400-93720400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr4:93688800-93690400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr4:93689200-93690400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
34	chr4:93689600-93690000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
35	chr4:93689600-93690000	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr4:93690000-93691800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
37	chr4:93690400-93690600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr4:93690400-93691000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
39	chr4:93690600-93692600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr4:93697400-93697800	Enhancers	Fetal Lung	lung
41	chr4:93702000-93727400	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr4:93709200-93752000	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr4:93711000-93711200	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr4:93711000-93711200	Enhancers	Fetal Brain Male	brain
45	chr4:93711000-93711200	Enhancers	HUVEC	blood vessel
46	chr4:93711400-93713000	Weak transcription	Fetal Brain Male	brain
47	chr4:93711600-93712800	Weak transcription	HUVEC	blood vessel
48	chr4:93711600-93713800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr4:93712800-93713400	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr4:93712800-93713400	Enhancers	Small Intestine	intestine

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