Variant report

Variant	esv1843331
Chromosome Location	chr4:96619599-96664321
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1341 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1341 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13139338	chr4:96619599-96619600	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186308096	chr4:96619619-96619620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543417471	chr4:96619631-96619632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563680602	chr4:96619632-96619633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548107144	chr4:96619648-96619649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532399748	chr4:96619687-96619688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs71585317	chr4:96619690-96619691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs70948436	chr4:96619691-96619692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375129415	chr4:96619702-96619703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113623839	chr4:96619735-96619736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559723160	chr4:96619752-96619753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534637930	chr4:96619772-96619773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191889404	chr4:96619784-96619785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4699450	chr4:96619787-96619788	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs568208412	chr4:96619823-96619824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs4699275	chr4:96620033-96620034	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs150666499	chr4:96620093-96620094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537166881	chr4:96620105-96620106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183426718	chr4:96620117-96620118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138975305	chr4:96620170-96620171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575754078	chr4:96620197-96620198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539094715	chr4:96620281-96620282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370048365	chr4:96620319-96620320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558814914	chr4:96620336-96620337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572440848	chr4:96620338-96620339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2865710	chr4:96620352-96620353	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs555160447	chr4:96620418-96620419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149426893	chr4:96620473-96620474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74384332	chr4:96620476-96620477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188435101	chr4:96620479-96620480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191127005	chr4:96620495-96620496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547573749	chr4:96620507-96620508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369403564	chr4:96620519-96620520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76420643	chr4:96620530-96620531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182300494	chr4:96620563-96620564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528411273	chr4:96620571-96620572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147464632	chr4:96620578-96620579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186698655	chr4:96620588-96620589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530478739	chr4:96620589-96620590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538355877	chr4:96620611-96620612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550648092	chr4:96620649-96620650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554150510	chr4:96620670-96620671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115657944	chr4:96620679-96620680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539031783	chr4:96620686-96620687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577124550	chr4:96620747-96620748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546218518	chr4:96620763-96620764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565997982	chr4:96620779-96620780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535335410	chr4:96620784-96620785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570178258	chr4:96620825-96620826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554816746	chr4:96620849-96620850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:96616800-96622200	Weak transcription	HUVEC	blood vessel
2	chr4:96619200-96620800	Enhancers	Dnd41	blood
3	chr4:96621000-96622600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:96622000-96622400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
5	chr4:96622200-96622400	Enhancers	Ovary	ovary
6	chr4:96622200-96622600	Enhancers	HSMMtube	muscle
7	chr4:96622200-96623600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr4:96622200-96623600	Enhancers	HUVEC	blood vessel
9	chr4:96622400-96622600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr4:96622400-96623400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr4:96622400-96623600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:96622400-96623600	Enhancers	HSMM	muscle
13	chr4:96622600-96622800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr4:96622600-96623200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:96622600-96623600	Enhancers	HMEC	breast
16	chr4:96622600-96623800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:96622800-96623200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr4:96622800-96623200	Enhancers	NH-A	brain
19	chr4:96622800-96623400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:96622800-96623400	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr4:96623000-96623200	Enhancers	Ovary	ovary
22	chr4:96623000-96623400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr4:96623000-96623400	Enhancers	H9 Cell Line	embryonic stem cell
24	chr4:96623000-96623400	Enhancers	Rectal Smooth Muscle	rectum
25	chr4:96623200-96623600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr4:96623200-96623600	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr4:96623800-96628000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:96628000-96628200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:96628200-96628400	Enhancers	Aorta	Aorta
30	chr4:96628200-96629000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:96629000-96629200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:96632800-96636400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:96635000-96636600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr4:96636400-96637600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:96636600-96637400	Enhancers	HMEC	breast
36	chr4:96636800-96637400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr4:96637000-96637600	Enhancers	Placenta Amnion	Placenta Amnion
38	chr4:96637400-96638400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr4:96638400-96638600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr4:96647400-96647600	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr4:96647400-96648200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr4:96647600-96650200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr4:96648200-96648400	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr4:96648600-96649200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr4:96648600-96653200	Weak transcription	HMEC	breast
46	chr4:96648800-96649400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr4:96649000-96649600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr4:96649200-96649400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr4:96649200-96649600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr4:96649400-96649800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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