Variant report

Variant	esv1850392
Chromosome Location	chr3:140540011-140550923
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 318 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:318 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188022410	chr3:140540030-140540031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528258960	chr3:140540100-140540101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114429409	chr3:140540145-140540146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571726599	chr3:140540165-140540166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191381481	chr3:140540166-140540167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149775150	chr3:140540174-140540175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557538989	chr3:140540239-140540240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369767313	chr3:140540240-140540241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183955961	chr3:140540254-140540255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536286349	chr3:140540304-140540305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188286906	chr3:140540337-140540338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376046945	chr3:140540366-140540367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76199288	chr3:140540400-140540401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377284460	chr3:140540431-140540432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79120626	chr3:140540470-140540471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558736126	chr3:140540474-140540475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116182065	chr3:140540505-140540506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573554008	chr3:140540510-140540511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544694312	chr3:140540563-140540564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563272074	chr3:140540606-140540607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192557256	chr3:140540607-140540608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542537559	chr3:140540616-140540617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562230702	chr3:140540628-140540629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542278120	chr3:140540634-140540635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534545748	chr3:140540657-140540658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184943517	chr3:140540673-140540674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546768328	chr3:140540688-140540689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373226104	chr3:140540714-140540715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs908821	chr3:140540718-140540719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance disease
30	rs5853006	chr3:140540771-140540772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs397718501	chr3:140540775-140540776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs56357536	chr3:140540785-140540786	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs112250608	chr3:140540845-140540846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182083307	chr3:140540868-140540869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533215697	chr3:140540873-140540874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569283458	chr3:140540926-140540927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536622845	chr3:140540989-140540990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183539447	chr3:140540995-140540996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548309196	chr3:140541058-140541059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566901053	chr3:140541062-140541063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186202712	chr3:140541103-140541104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189488006	chr3:140541170-140541171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554846878	chr3:140541200-140541201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs180828281	chr3:140541206-140541207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76010284	chr3:140541208-140541209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556989847	chr3:140541272-140541273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575257168	chr3:140541279-140541280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147004730	chr3:140541337-140541338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560721865	chr3:140541354-140541355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534485536	chr3:140541405-140541406	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Schizophrenia	17989066	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140535800-140540800	Weak transcription	Fetal Muscle Leg	muscle
2	chr3:140536000-140541400	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr3:140539800-140542600	Enhancers	HSMMtube	muscle
4	chr3:140540200-140540800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:140540200-140540800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr3:140540200-140542600	Enhancers	HepG2	liver
7	chr3:140540600-140541600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:140540800-140541800	Enhancers	Fetal Muscle Leg	muscle
9	chr3:140541000-140541800	Enhancers	Fetal Thymus	thymus
10	chr3:140541000-140542200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:140541000-140542400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr3:140541000-140542400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr3:140541200-140542600	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr3:140541400-140542000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr3:140541400-140542200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr3:140541400-140542400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr3:140541400-140542400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr3:140541400-140542600	Enhancers	H1 Cell Line	embryonic stem cell
19	chr3:140541400-140542600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr3:140541600-140542000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:140541800-140542200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr3:140542000-140542600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:140542000-140551400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr3:140542200-140542600	Enhancers	Lung	lung
25	chr3:140542600-140543600	Weak transcription	HepG2	liver
26	chr3:140542800-140546400	Weak transcription	HSMMtube	muscle
27	chr3:140543600-140544200	Enhancers	HepG2	liver
28	chr3:140544200-140547000	Weak transcription	HepG2	liver
29	chr3:140546400-140547200	Enhancers	HSMMtube	muscle
30	chr3:140547000-140548400	Enhancers	HepG2	liver
31	chr3:140547200-140547400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
32	chr3:140549000-140550000	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr3:140549200-140549400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr3:140549600-140551200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr3:140550000-140550400	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr3:140550400-140554400	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr3:140550600-140551600	Enhancers	Primary T cells from cord blood	blood

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