Variant report

Variant	nsv1010290
Chromosome Location	chr4:93753135-93830001
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	chr4:93753510-93753717	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr4:93795868-93796039	IMR90	lung:	n/a	chr4:93795963-93795974
3	CEBPB	chr4:93806171-93806461	HepG2	liver:	n/a	n/a
4	CEBPB	chr4:93795845-93796108	HepG2	liver:	n/a	chr4:93795963-93795974
5	CEBPB	chr4:93796324-93796523	HepG2	liver:	n/a	chr4:93796369-93796380
6	CEBPB	chr4:93796260-93796522	H1-hESC	embryonic stem cell:	n/a	chr4:93796369-93796380
7	CTCF	chr4:93781063-93781091	Medullo	brain:	n/a	n/a
8	CTCF	chr4:93820547-93820599	GM13976	blood:	n/a	n/a
9	CTCF	chr4:93805041-93805254	GM12878	blood:	n/a	n/a
10	CTCF	chr4:93813258-93813292	GM13976	blood:	n/a	n/a
11	CTCF	chr4:93781016-93781216	GM12878	blood:	n/a	n/a
12	CTCF	chr4:93802078-93802118	Kidney_OC	kidney:	n/a	n/a
13	CTCF	chr4:93780940-93781090	WERI-Rb-1	eye:	n/a	n/a
14	CTCF	chr4:93781000-93781150	GM12873	blood:	n/a	n/a
15	CTCF	chr4:93758511-93758537	GM13976	blood:	n/a	n/a
16	CTCF	chr4:93807280-93807430	MCF-7	breast:	n/a	n/a
17	E2F4	chr4:93760978-93760979	MCF10A-Er-Src	breast:	n/a	n/a
18	FAM48A	chr4:93762160-93762230	GM12878	blood:	n/a	n/a
19	FOS	chr4:93793727-93794160	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr4:93792566-93792922	MCF10A-Er-Src	breast:	n/a	chr4:93792888-93792898 chr4:93792888-93792898
21	FOS	chr4:93793766-93794158	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr4:93792581-93792936	MCF10A-Er-Src	breast:	n/a	chr4:93792888-93792898 chr4:93792888-93792898
23	FOS	chr4:93793727-93794191	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr4:93792572-93792917	MCF10A-Er-Src	breast:	n/a	chr4:93792888-93792898 chr4:93792888-93792898
25	FOS	chr4:93793821-93794078	MCF10A-Er-Src	breast:	n/a	n/a
26	FOXA1	chr4:93818445-93818781	HepG2	liver:	n/a	chr4:93818569-93818581
27	GABPA	chr4:93796259-93796335	HepG2	liver:	n/a	n/a
28	GATA2	chr4:93762004-93762398	SH-SY5Y	brain:	n/a	n/a
29	GATA2	chr4:93763828-93764231	SH-SY5Y	brain:	n/a	chr4:93763852-93763859 chr4:93763852-93763859 chr4:93764078-93764085 chr4:93763852-93763862 chr4:93764071-93764092 chr4:93764073-93764089 chr4:93764078-93764085 chr4:93763847-93763863 chr4:93763850-93763859 chr4:93764078-93764085 chr4:93763845-93763866 chr4:93763852-93763859
30	GATA3	chr4:93792811-93792955	SH-SY5Y	brain:	n/a	n/a
31	GATA3	chr4:93762072-93762384	MCF-7	breast:	n/a	n/a
32	GATA3	chr4:93762004-93762507	SH-SY5Y	brain:	n/a	chr4:93762407-93762418
33	GATA3	chr4:93824731-93825481	MCF-7	breast:	n/a	chr4:93824959-93824967
34	GATA3	chr4:93761832-93762514	MCF-7	breast:	n/a	chr4:93762407-93762418
35	GATA3	chr4:93824749-93825224	MCF-7	breast:	n/a	chr4:93824959-93824967
36	GATA3	chr4:93762046-93762426	SK-N-SH	brain:	n/a	chr4:93762407-93762418
37	GATA3	chr4:93762042-93762292	T-47D	breast:	n/a	n/a
38	GATA3	chr4:93763851-93764214	SH-SY5Y	brain:	n/a	chr4:93763852-93763859 chr4:93763852-93763859 chr4:93764078-93764085 chr4:93763852-93763862 chr4:93764071-93764092 chr4:93764073-93764089 chr4:93764078-93764085 chr4:93764078-93764085 chr4:93763852-93763859
39	GATA3	chr4:93819741-93819924	SH-SY5Y	brain:	n/a	chr4:93819763-93819774
40	GATA3	chr4:93761996-93762386	SK-N-SH	brain:	n/a	n/a
41	IRF1	chr4:93762393-93762403	K562	blood:	n/a	n/a
42	JUND	chr4:93809990-93810126	H1-hESC	embryonic stem cell:	n/a	n/a
43	MAFF	chr4:93764949-93765285	HepG2	liver:	n/a	chr4:93765124-93765142
44	MAFF	chr4:93764963-93765270	K562	blood:	n/a	chr4:93765124-93765142
45	MAFF	chr4:93783672-93784051	HepG2	liver:	n/a	chr4:93783857-93783875
46	MAFF	chr4:93783688-93784030	K562	blood:	n/a	chr4:93783857-93783875
47	MAFK	chr4:93783689-93784039	K562	blood:	n/a	chr4:93783858-93783873 chr4:93783863-93783874 chr4:93783858-93783874 chr4:93783853-93783873
48	MAFK	chr4:93764952-93765314	HepG2	liver:	n/a	chr4:93765126-93765141
49	MAFK	chr4:93783679-93784022	H1-hESC	embryonic stem cell:	n/a	chr4:93783858-93783873 chr4:93783863-93783874 chr4:93783858-93783874 chr4:93783853-93783873
50	MAFK	chr4:93773506-93773618	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:93825096..93827296-chr4:93828128..93830318,2	K562	blood:
2	chr4:93827426..93829042-chr4:93829198..93830745,2	K562	blood:
3	chr4:93757984..93759775-chr4:93817140..93819795,2	MCF-7	breast:
4	chr4:93773449..93776266-chr4:93779103..93780772,2	MCF-7	breast:
5	chr4:93757984..93759775-chr4:93817140..93819795,2	MCF-7	breast:
6	chr4:93827426..93829042-chr4:93829198..93830745,2	K562	blood:
7	chr4:93773449..93776266-chr4:93779103..93780772,2	MCF-7	breast:
8	chr4:93825096..93827296-chr4:93828128..93830318,2	K562	blood:

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

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

Extended variants
information (count: 2290 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:2290 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17019920	chr4:93753135-93753136	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs112554786	chr4:93753164-93753165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576905532	chr4:93753173-93753174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112750752	chr4:93753179-93753180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559981424	chr4:93753218-93753219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183683977	chr4:93753238-93753239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187832960	chr4:93753255-93753256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192948902	chr4:93753326-93753327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530875331	chr4:93753331-93753332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544287117	chr4:93753362-93753363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544661745	chr4:93753435-93753436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564184412	chr4:93753475-93753476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142711118	chr4:93753480-93753481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372930073	chr4:93753534-93753535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552222184	chr4:93753557-93753558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565930579	chr4:93753564-93753565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528297095	chr4:93753605-93753606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371361026	chr4:93753606-93753607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184207412	chr4:93753609-93753610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201640594	chr4:93753637-93753638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374675717	chr4:93753662-93753663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568253224	chr4:93753680-93753681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537189955	chr4:93753701-93753702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557073084	chr4:93753717-93753718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570497817	chr4:93753747-93753748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574876688	chr4:93753773-93753774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539386198	chr4:93753811-93753812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188207493	chr4:93753820-93753821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570946756	chr4:93753823-93753824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191567706	chr4:93753824-93753825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573440337	chr4:93753830-93753831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542071103	chr4:93753838-93753839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368384700	chr4:93753844-93753845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555578197	chr4:93753851-93753852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374528127	chr4:93753855-93753856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184881983	chr4:93753887-93753888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369016131	chr4:93753910-93753911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544325859	chr4:93753922-93753923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535944822	chr4:93753992-93753993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189640200	chr4:93754029-93754030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181446229	chr4:93754043-93754044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540592306	chr4:93754072-93754073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535168338	chr4:93754076-93754077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528347354	chr4:93754077-93754078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4235037	chr4:93754099-93754100	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs375452356	chr4:93754102-93754103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187028388	chr4:93754110-93754111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115786347	chr4:93754124-93754125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369568189	chr4:93754151-93754152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547840356	chr4:93754180-93754181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
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
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
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:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:93738600-93753600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:93745400-93758200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:93752400-93757800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr4:93757800-93758200	Enhancers	H1 Cell Line	embryonic stem cell
5	chr4:93757800-93758600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr4:93757800-93759200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr4:93758200-93758400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr4:93758200-93802200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr4:93758400-93764200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:93758600-93760000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr4:93759200-93759600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr4:93759600-93759800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr4:93759800-93767400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr4:93760000-93760200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr4:93760000-93760400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr4:93760000-93760400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
17	chr4:93762400-93764000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:93764000-93766000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:93766000-93767000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:93767000-93767400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:93767200-93768000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr4:93767200-93768000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:93767400-93768400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr4:93767400-93768600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr4:93767400-93768600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr4:93767600-93768400	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr4:93767800-93768400	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr4:93767800-93768600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:93767800-93768600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr4:93768000-93768600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr4:93768400-93769200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr4:93768400-93773400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr4:93768600-93769200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:93768600-93773000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr4:93768600-93773400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr4:93769200-93769400	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr4:93769200-93770000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr4:93769400-93785000	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr4:93770000-93772800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr4:93772800-93773400	Enhancers	Fetal Intestine Small	intestine
41	chr4:93772800-93774400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr4:93773000-93773800	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr4:93773200-93773800	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr4:93773400-93773600	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr4:93773400-93773800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr4:93773600-93774200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr4:93773800-93783000	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr4:93777200-93786800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr4:93783000-93787400	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr4:93783800-93784600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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