Variant report

Variant	nsv879686
Chromosome Location	chr4:104260725-104335667
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	chr4:104266900-104266909	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr4:104321608-104321927	H1-hESC	embryonic stem cell:	n/a	n/a
3	BATF	chr4:104321623-104321858	GM12878	blood:	n/a	chr4:104321771-104321782
4	BHLHE40	chr4:104321736-104321854	HepG2	liver:	n/a	n/a
5	BHLHE40	chr4:104321687-104321948	K562	blood:	n/a	n/a
6	CBX3	chr4:104281133-104281404	K562	blood:	n/a	n/a
7	CBX3	chr4:104281096-104281352	K562	blood:	n/a	n/a
8	CEBPB	chr4:104269838-104270035	HepG2	liver:	n/a	chr4:104269963-104269974
9	CEBPB	chr4:104275063-104275203	HepG2	liver:	n/a	chr4:104275091-104275102
10	CEBPB	chr4:104328268-104328562	HepG2	liver:	n/a	chr4:104328385-104328396
11	CEBPB	chr4:104271857-104272028	H1-hESC	embryonic stem cell:	n/a	chr4:104271930-104271941
12	CEBPB	chr4:104328273-104328473	A549	lung:	n/a	chr4:104328385-104328396
13	CEBPB	chr4:104321803-104322048	HepG2	liver:	n/a	chr4:104321934-104321945
14	CEBPB	chr4:104271810-104272041	A549	lung:	n/a	chr4:104271930-104271941
15	CEBPB	chr4:104271788-104272061	HepG2	liver:	n/a	chr4:104271930-104271941
16	CEBPB	chr4:104271815-104272039	Hela-S3	cervix:	n/a	chr4:104271930-104271941
17	CHD2	chr4:104277715-104277724	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD2	chr4:104271728-104271768	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr4:104286524-104286590	GM10248	blood:	n/a	n/a
20	CTCF	chr4:104286568-104286660	MCF-7	breast:	n/a	n/a
21	CTCF	chr4:104286540-104286690	HMEC	breast:	n/a	n/a
22	CTCF	chr4:104268974-104268984	K562	blood:	n/a	n/a
23	CTCF	chr4:104300280-104300430	GM06990	blood:	n/a	n/a
24	CTCF	chr4:104283080-104283230	Caco-2	colon:	n/a	n/a
25	CTCF	chr4:104286540-104286690	HEEpiC	esophagus:	n/a	n/a
26	CTCF	chr4:104286560-104286710	SAEC	small airway:	n/a	n/a
27	CTCF	chr4:104286540-104286690	WERI-Rb-1	eye:	n/a	n/a
28	CTCF	chr4:104286480-104286630	HEEpiC	esophagus:	n/a	n/a
29	CTCF	chr4:104286589-104286626	MCF-7	breast:	n/a	n/a
30	CTCF	chr4:104286548-104286657	Medullo	brain:	n/a	n/a
31	E2F4	chr4:104268713-104268872	MCF10A-Er-Src	breast:	n/a	n/a
32	E2F4	chr4:104296500-104296603	MCF10A-Er-Src	breast:	n/a	n/a
33	E2F4	chr4:104271339-104271410	MCF10A-Er-Src	breast:	n/a	n/a
34	E2F4	chr4:104321638-104321808	MCF10A-Er-Src	breast:	n/a	n/a
35	EBF1	chr4:104321528-104321881	GM12878	blood:	n/a	chr4:104321679-104321690
36	EBF1	chr4:104321589-104321810	GM12878	blood:	n/a	chr4:104321679-104321690
37	EP300	chr4:104271966-104271989	Hela-S3	cervix:	n/a	n/a
38	FAM48A	chr4:104299874-104299943	GM12878	blood:	n/a	n/a
39	FAM48A	chr4:104297753-104297880	GM12878	blood:	n/a	n/a
40	FOS	chr4:104296472-104296903	MCF10A-Er-Src	breast:	n/a	chr4:104296648-104296659
41	FOS	chr4:104321624-104321957	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr4:104321611-104321966	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr4:104296497-104296801	MCF10A-Er-Src	breast:	n/a	chr4:104296648-104296659
44	FOS	chr4:104287461-104287631	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr4:104331660-104331996	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr4:104331454-104331976	MCF10A-Er-Src	breast:	n/a	chr4:104331640-104331650 chr4:104331535-104331544 chr4:104331640-104331650
47	FOS	chr4:104321618-104321956	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr4:104296498-104296826	MCF10A-Er-Src	breast:	n/a	chr4:104296648-104296659
49	FOS	chr4:104321611-104321972	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr4:104265869-104266117	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:104322090..104323891-chr4:104326352..104329222,2	MCF-7	breast:
2	chr4:104322090..104323891-chr4:104326352..104329222,2	MCF-7	breast:
3	chr4:104333746..104335920-chr4:104344875..104346775,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CISD2-3	chr4:104298160-104298332	ENSG00000248740

Variant related genes	Relation type
ENSG00000248740	TF binding region
ENSG00000248740	chromatin interactions

Extended variants
information (count: 1457 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1457 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565461115	chr4:104263465-104263466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs143138218	chr4:104263519-104263520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557770373	chr4:104263539-104263540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530533018	chr4:104263568-104263569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550621515	chr4:104263590-104263591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182199327	chr4:104263631-104263632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538574524	chr4:104263650-104263651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547293080	chr4:104263652-104263653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187210072	chr4:104263686-104263687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs17033600	chr4:104263715-104263716	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs575035265	chr4:104263721-104263722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542442513	chr4:104263742-104263743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554377416	chr4:104263764-104263765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112446273	chr4:104263783-104263784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs71597150	chr4:104263788-104263789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546303138	chr4:104263831-104263832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564531912	chr4:104263974-104263975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531600235	chr4:104263975-104263976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543760028	chr4:104264002-104264003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561840169	chr4:104264097-104264098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs116373448	chr4:104264099-104264100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533947996	chr4:104264160-104264161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547206588	chr4:104264187-104264188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565525099	chr4:104264220-104264221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532893975	chr4:104264240-104264241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551187836	chr4:104264309-104264310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368447409	chr4:104264344-104264345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79697536	chr4:104264395-104264396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140314504	chr4:104264428-104264429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548915963	chr4:104264444-104264445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191790515	chr4:104264464-104264465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536121159	chr4:104264510-104264511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77950559	chr4:104264529-104264530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145325867	chr4:104264542-104264543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539968632	chr4:104264601-104264602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs137902026	chr4:104264614-104264615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs376694432	chr4:104264624-104264625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs369939094	chr4:104264635-104264636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369347115	chr4:104264644-104264645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562080568	chr4:104264691-104264692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142368557	chr4:104264694-104264695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs57768321	chr4:104264754-104264755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540907878	chr4:104264785-104264786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559172693	chr4:104264871-104264872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs532949409	chr4:104264873-104264874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551509697	chr4:104264914-104264915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372852611	chr4:104264919-104264920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573826227	chr4:104264940-104264941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs181687696	chr4:104264949-104264950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542661509	chr4:104272409-104272410	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
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
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
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	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
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:104263400-104264200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:104264200-104264600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:104264600-104265000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:104272400-104272600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:104273000-104275000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:104274800-104275200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr4:104275000-104276200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:104275200-104275400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
9	chr4:104279200-104282200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
10	chr4:104279600-104282600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
11	chr4:104280000-104282000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:104280200-104280800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:104280200-104282200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
14	chr4:104280400-104282200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
15	chr4:104280800-104281600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:104280800-104281600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr4:104280800-104282200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
18	chr4:104280800-104283800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
19	chr4:104281600-104281800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:104281600-104282400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr4:104281800-104283200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:104282200-104293600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr4:104282400-104284600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr4:104282800-104284200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr4:104283000-104283400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:104283200-104283400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr4:104283200-104283400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:104283400-104284600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:104283400-104288000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:104283800-104293200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr4:104283800-104296400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr4:104284000-104284800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr4:104284200-104285000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr4:104284600-104285000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:104284600-104287400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr4:104284800-104287000	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr4:104285000-104285600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr4:104285000-104286600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:104285200-104285600	Enhancers	Brain Substantia Nigra	brain
40	chr4:104285400-104285800	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr4:104285600-104285800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr4:104285600-104286200	Weak transcription	Brain Substantia Nigra	brain
43	chr4:104285800-104286200	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr4:104285800-104287800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr4:104286200-104286400	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr4:104286200-104286800	Enhancers	Brain Substantia Nigra	brain
47	chr4:104286400-104293400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr4:104286400-104293800	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr4:104286600-104287400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:104287000-104295000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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