Variant report

Variant	esv3333102
Chromosome Location	chr4:93503529-93506927
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 142 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556127154	chr4:93503586-93503587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191087564	chr4:93503627-93503628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544805906	chr4:93503657-93503658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558643411	chr4:93503674-93503675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115924415	chr4:93503742-93503743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540637019	chr4:93503808-93503809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374258619	chr4:93503837-93503838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561196662	chr4:93503868-93503869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs62310102	chr4:93503902-93503903	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs543599524	chr4:93503982-93503983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs62310103	chr4:93504002-93504003	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs532614983	chr4:93504015-93504016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs62310104	chr4:93504044-93504045	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs566180713	chr4:93504061-93504062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs143100529	chr4:93504073-93504074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548650337	chr4:93504086-93504087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs62310105	chr4:93504094-93504095	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs536585824	chr4:93504095-93504096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556302912	chr4:93504110-93504111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569725474	chr4:93504141-93504142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538845427	chr4:93504143-93504144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558630051	chr4:93504144-93504145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs9685970	chr4:93504230-93504231	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs112739203	chr4:93504260-93504261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541275260	chr4:93504301-93504302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534311955	chr4:93504319-93504320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554182153	chr4:93504373-93504374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs148219243	chr4:93504417-93504418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs34845420	chr4:93504457-93504458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs11303889	chr4:93504500-93504501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564030346	chr4:93504521-93504522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577331583	chr4:93504523-93504524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546387529	chr4:93504529-93504530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs72882149	chr4:93504570-93504571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528638025	chr4:93504600-93504601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548588966	chr4:93504616-93504617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs9684124	chr4:93504643-93504644	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs185268036	chr4:93504688-93504689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549774777	chr4:93504774-93504775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs201623504	chr4:93504777-93504778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs76911864	chr4:93504807-93504808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs146500293	chr4:93504808-93504809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs398063810	chr4:93504819-93504820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs62310106	chr4:93504821-93504822	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs200241015	chr4:93504854-93504855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs70942912	chr4:93504856-93504857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs34130390	chr4:93504857-93504858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs397729257	chr4:93504864-93504865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs78945563	chr4:93504867-93504868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183207905	chr4:93504871-93504872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Bipolar disorder	19114987	CNVD
Autism	20841430	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:93495600-93511400	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr4:93495600-93535600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:93496400-93540200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:93497800-93511200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr4:93497800-93524200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:93498000-93521800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:93501800-93504200	Weak transcription	Brain Anterior Caudate	brain
8	chr4:93502800-93531400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr4:93503000-93504800	Enhancers	Brain Substantia Nigra	brain
10	chr4:93503200-93503600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr4:93503600-93505400	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr4:93504200-93504600	Enhancers	Brain Anterior Caudate	brain
13	chr4:93504400-93504600	Enhancers	Brain Angular Gyrus	brain

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