Variant report

Variant	nsv963983
Chromosome Location	chr4:93745359-93755269
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	CTCF	chr4:93746868-93746973	GM20000	blood:	n/a	n/a
3	FOS	chr4:93746504-93746794	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr4:93746524-93746674	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr4:93746503-93746754	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr4:93752794-93753008	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr4:93750925-93751181	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr4:93746413-93746516	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr4:93751416-93751570	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr4:93746104-93746288	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr4:93754299-93754311	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr4:93746452-93746706	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr4:93752890-93752965	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr4:93751883-93752346	H1-neurons	neurons:	n/a	n/a
15	POLR2A	chr4:93751919-93752304	H1-neurons	neurons:	n/a	n/a
16	STAT3	chr4:93754283-93754307	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-9B6.1.1-2	chr4:93754836-93755124	ENSG00000248627.1

Variant related genes	Relation type
ENSG00000249239	TF binding region

Extended variants
information (count: 391 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:391 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115204679	chr4:93745361-93745362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540772650	chr4:93745376-93745377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560796621	chr4:93745385-93745386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542688902	chr4:93745452-93745453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529725448	chr4:93745455-93745456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144956391	chr4:93745498-93745499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564030557	chr4:93745502-93745503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77071807	chr4:93745508-93745509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552811736	chr4:93745517-93745518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566325756	chr4:93745546-93745547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528675636	chr4:93745567-93745568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538255416	chr4:93745622-93745623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528082173	chr4:93745706-93745707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553615618	chr4:93745736-93745737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543663080	chr4:93745737-93745738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548696661	chr4:93745912-93745913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185497611	chr4:93745927-93745928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148549586	chr4:93745932-93745933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557029181	chr4:93745968-93745969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113804403	chr4:93746036-93746037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530721612	chr4:93746050-93746051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35937917	chr4:93746137-93746138	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs558958689	chr4:93746138-93746139	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs70942932	chr4:93746145-93746146	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs142924955	chr4:93746161-93746162	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs558423390	chr4:93746169-93746170	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs192810581	chr4:93746195-93746196	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs550323590	chr4:93746196-93746197	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs567143227	chr4:93746218-93746219	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs373870977	chr4:93746260-93746261	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs184369208	chr4:93746274-93746275	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs151102218	chr4:93746349-93746350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs377133487	chr4:93746366-93746367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563096255	chr4:93746371-93746372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576472783	chr4:93746372-93746373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532143203	chr4:93746399-93746400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188408094	chr4:93746403-93746404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs141092760	chr4:93746438-93746439	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs146913357	chr4:93746479-93746480	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs181263814	chr4:93746511-93746512	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs568545899	chr4:93746520-93746521	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs386677307	chr4:93746537-93746538	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs184087422	chr4:93746544-93746545	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs77736427	chr4:93746554-93746555	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs189102699	chr4:93746560-93746561	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs375705380	chr4:93746658-93746659	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs370268302	chr4:93746668-93746669	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs181042308	chr4:93746670-93746671	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs187163487	chr4:93746675-93746676	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs565600972	chr4:93746682-93746683	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

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

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:93709200-93752000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr4:93738600-93753600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:93745200-93746200	Weak transcription	Fetal Intestine Large	intestine
4	chr4:93745200-93746200	Weak transcription	Fetal Intestine Small	intestine
5	chr4:93745400-93758200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:93746200-93747200	Enhancers	Fetal Heart	heart
7	chr4:93746200-93747200	Enhancers	Fetal Intestine Large	intestine
8	chr4:93746200-93747200	Enhancers	Fetal Intestine Small	intestine
9	chr4:93746400-93747000	Enhancers	Fetal Lung	lung
10	chr4:93746600-93746800	Enhancers	Fetal Brain Male	brain
11	chr4:93746800-93747200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:93747200-93747400	Flanking Active TSS	Fetal Heart	heart
13	chr4:93747400-93747600	Enhancers	Fetal Brain Male	brain
14	chr4:93752000-93752400	Strong transcription	H1 Cell Line	embryonic stem cell
15	chr4:93752400-93757800	Weak transcription	H1 Cell Line	embryonic stem cell

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