Variant report

Variant	esv3372840
Chromosome Location	chr4:96017579-96019027
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:96011040..96013524-chr4:96016284..96018224,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138696	chromatin interactions

Extended variants
information (count: 64 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188031043	chr4:96017593-96017594	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs28669077	chr4:96017621-96017622	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs539748502	chr4:96017626-96017627	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs180750655	chr4:96017648-96017649	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs536484560	chr4:96017702-96017703	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs554894776	chr4:96017706-96017707	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs576407523	chr4:96017720-96017721	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs527919427	chr4:96017733-96017734	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs114886895	chr4:96017745-96017746	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs556457133	chr4:96017749-96017750	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs561450118	chr4:96017753-96017754	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs369157479	chr4:96017757-96017758	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs576322145	chr4:96017768-96017769	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs186434572	chr4:96017778-96017779	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs530437444	chr4:96017809-96017810	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs190890719	chr4:96017865-96017866	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs375725278	chr4:96017876-96017877	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs200188789	chr4:96017877-96017878	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs72617707	chr4:96017881-96017882	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs372627122	chr4:96017897-96017898	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs12650297	chr4:96017900-96017901	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs376788961	chr4:96017919-96017920	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs369000855	chr4:96017925-96017926	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs373423458	chr4:96017926-96017927	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs539133352	chr4:96017948-96017949	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs11732048	chr4:96017949-96017950	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs573272946	chr4:96018016-96018017	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs113466498	chr4:96018047-96018048	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs540896964	chr4:96018084-96018085	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs369830217	chr4:96018098-96018099	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs181939748	chr4:96018107-96018108	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs13117435	chr4:96018126-96018127	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs12644367	chr4:96018161-96018162	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs34361817	chr4:96018176-96018177	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs553155517	chr4:96018184-96018185	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs566664176	chr4:96018185-96018186	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs536959929	chr4:96018187-96018188	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs541100851	chr4:96018286-96018287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142967823	chr4:96018291-96018292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs67634687	chr4:96018292-96018293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs70946588	chr4:96018293-96018294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376481106	chr4:96018295-96018296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556495256	chr4:96018316-96018317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12645001	chr4:96018337-96018338	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs533947148	chr4:96018365-96018366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201432298	chr4:96018377-96018378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563530082	chr4:96018401-96018402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374222412	chr4:96018405-96018406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552825356	chr4:96018464-96018465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542067781	chr4:96018523-96018524	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
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
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
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:96009600-96023600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:96014000-96026400	Weak transcription	Aorta	Aorta
3	chr4:96014200-96026400	Weak transcription	Psoas Muscle	Psoas
4	chr4:96014400-96021200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:96015800-96020200	Weak transcription	HUVEC	blood vessel
6	chr4:96016000-96025600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr4:96016000-96060600	Weak transcription	Thymus	Thymus
8	chr4:96016600-96025400	Weak transcription	Fetal Thymus	thymus
9	chr4:96016600-96054200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr4:96016800-96017600	Enhancers	A549	lung
11	chr4:96017000-96017800	Enhancers	Dnd41	blood
12	chr4:96017000-96020000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:96017000-96020200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:96017600-96022200	Weak transcription	A549	lung
15	chr4:96017800-96020000	Weak transcription	Dnd41	blood

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