Variant report

Variant	nsv968003
Chromosome Location	chr4:93229643-93232553
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	E2F4	chr4:93231298-93231565	MCF10A-Er-Src	breast:	n/a	n/a
2	E2F4	chr4:93230132-93230265	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr4:93232039-93232066	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:93232082..93235145-chr4:93236443..93238275,3	K562	blood:
2	chr4:93230221..93231021-chr4:93539897..93540682,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248511	TF binding region

Extended variants
information (count: 124 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371815581	chr4:93229648-93229649	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs563902490	chr4:93229675-93229676	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs564975477	chr4:93229683-93229684	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs188306868	chr4:93229694-93229695	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs1877598	chr4:93229695-93229696	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs559759707	chr4:93229698-93229699	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs528486439	chr4:93229727-93229728	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs548164025	chr4:93229747-93229748	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs182232494	chr4:93229790-93229791	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs537147554	chr4:93229795-93229796	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs73839281	chr4:93229799-93229800	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs569842427	chr4:93229845-93229846	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs7692631	chr4:93229848-93229849	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs1877599	chr4:93229855-93229856	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs572223882	chr4:93229886-93229887	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs534637853	chr4:93229890-93229891	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs199545915	chr4:93229891-93229892	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs554595719	chr4:93229909-93229910	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs62310991	chr4:93229930-93229931	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs574632206	chr4:93229946-93229947	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs543543761	chr4:93229967-93229968	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs1513454	chr4:93230051-93230052	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs187159245	chr4:93230083-93230084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577382736	chr4:93230106-93230107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546050144	chr4:93230110-93230111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529681670	chr4:93230118-93230119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560031305	chr4:93230127-93230128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528753890	chr4:93230145-93230146	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs548227260	chr4:93230169-93230170	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs548079065	chr4:93230187-93230188	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs561753368	chr4:93230218-93230219	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs116410079	chr4:93230220-93230221	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs192504712	chr4:93230257-93230258	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs181655129	chr4:93230263-93230264	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs187114466	chr4:93230267-93230268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570829618	chr4:93230276-93230277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538857413	chr4:93230297-93230298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552069177	chr4:93230306-93230307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189975108	chr4:93230310-93230311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144374773	chr4:93230318-93230319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182535438	chr4:93230321-93230322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115764172	chr4:93230325-93230326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186493866	chr4:93230347-93230348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189674464	chr4:93230387-93230388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576839908	chr4:93230398-93230399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536834758	chr4:93230423-93230424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546418640	chr4:93230424-93230425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553289488	chr4:93230436-93230437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572351783	chr4:93230446-93230447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573056401	chr4:93230512-93230513	Weak transcription	n/a	n/a	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
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
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
early-passage human iPS cells	21368824	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:93224600-93229800	Active TSS	Brain Anterior Caudate	brain
2	chr4:93227600-93240600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:93228000-93230000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr4:93228200-93229800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr4:93228600-93230200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr4:93229200-93230200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr4:93229200-93230200	Enhancers	Brain Substantia Nigra	brain
8	chr4:93229400-93229800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr4:93229600-93229800	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr4:93229600-93230000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr4:93229600-93238800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr4:93229800-93230000	Flanking Active TSS	Brain Anterior Caudate	brain
13	chr4:93230000-93230200	Enhancers	Brain Cingulate Gyrus	brain
14	chr4:93230200-93232000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr4:93230200-93232200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr4:93230200-93236600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr4:93232000-93232200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr4:93232200-93232600	Enhancers	Brain Cingulate Gyrus	brain

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