Variant report

Variant	esv12956
Chromosome Location	chr3:133016100-133025982
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	chr17:59476795..59478670-chr3:133018765..133021636,2	MCF-7	breast:
2	chr3:133001474..133003322-chr3:133021148..133022871,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267280	chromatin interactions
ENSG00000121068	chromatin interactions
ENSG00000267131	chromatin interactions

Extended variants
information (count: 379 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:379 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564812265	chr3:133016102-133016103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs531983959	chr3:133016209-133016210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369006254	chr3:133016239-133016240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552127393	chr3:133016250-133016251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1708370	chr3:133016314-133016315	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs61225100	chr3:133016363-133016364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192242723	chr3:133016367-133016368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373765236	chr3:133016386-133016387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs79815211	chr3:133016410-133016411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183901550	chr3:133016438-133016439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556943490	chr3:133016481-133016482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546853240	chr3:133016565-133016566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112887560	chr3:133016611-133016612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139180681	chr3:133016612-133016613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560756812	chr3:133016638-133016639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539382422	chr3:133016643-133016644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553318779	chr3:133016644-133016645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573316281	chr3:133016656-133016657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs144067286	chr3:133016662-133016663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562168757	chr3:133016665-133016666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs146847812	chr3:133016684-133016685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528967107	chr3:133016689-133016690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548699815	chr3:133016709-133016710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs10512896	chr3:133016759-133016760	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs537490516	chr3:133016781-133016782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564550886	chr3:133016792-133016793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs35716595	chr3:133016831-133016832	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs547018675	chr3:133016868-133016869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188732911	chr3:133016869-133016870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113865526	chr3:133016914-133016915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs75768949	chr3:133016934-133016935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184362555	chr3:133017055-133017056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190517464	chr3:133017074-133017075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553669159	chr3:133017158-133017159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs73221182	chr3:133017159-133017160	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs570592155	chr3:133017172-133017173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139335458	chr3:133017306-133017307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535949369	chr3:133017326-133017327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377668378	chr3:133017350-133017351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182179011	chr3:133017370-133017371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187607486	chr3:133017415-133017416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555934987	chr3:133017461-133017462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150038862	chr3:133017506-133017507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566826170	chr3:133017531-133017532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114924278	chr3:133017536-133017537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189895886	chr3:133017543-133017544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181741815	chr3:133017581-133017582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115810812	chr3:133017612-133017613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575815774	chr3:133017627-133017628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558320977	chr3:133017637-133017638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Cancer	21129771	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
Hailey-hailey disease	17597066	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133010400-133016600	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr3:133013600-133016400	Enhancers	Fetal Lung	lung
3	chr3:133014000-133016200	Enhancers	HSMMtube	muscle
4	chr3:133014000-133017000	Enhancers	Ovary	ovary
5	chr3:133014200-133016600	Enhancers	Brain Germinal Matrix	brain
6	chr3:133014200-133016600	Enhancers	Fetal Muscle Leg	muscle
7	chr3:133014400-133017000	Enhancers	Fetal Brain Male	brain
8	chr3:133014600-133019000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr3:133014800-133016400	Enhancers	Fetal Heart	heart
10	chr3:133014800-133019800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr3:133014800-133019800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr3:133014800-133020800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr3:133015000-133019800	Weak transcription	HSMM	muscle
14	chr3:133015400-133016200	Enhancers	Right Ventricle	heart
15	chr3:133015400-133016600	Enhancers	Fetal Brain Female	brain
16	chr3:133015400-133016800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:133015400-133019000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr3:133015400-133019400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr3:133015400-133019400	Weak transcription	HUVEC	blood vessel
20	chr3:133015400-133019600	Weak transcription	Osteobl	bone
21	chr3:133015600-133016400	Weak transcription	Left Ventricle	heart
22	chr3:133015600-133016400	Weak transcription	Right Atrium	heart
23	chr3:133015600-133016800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr3:133015600-133019000	Weak transcription	NH-A	brain
25	chr3:133015600-133019200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr3:133015600-133020000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr3:133015800-133019200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr3:133016200-133020200	Weak transcription	HSMMtube	muscle
29	chr3:133016400-133016600	Enhancers	Left Ventricle	heart
30	chr3:133016400-133016600	Enhancers	Right Atrium	heart
31	chr3:133016400-133038200	Weak transcription	Fetal Lung	lung
32	chr3:133016600-133017800	Weak transcription	Brain Germinal Matrix	brain
33	chr3:133016600-133018200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr3:133016600-133018800	Weak transcription	Fetal Brain Female	brain
35	chr3:133016800-133020200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:133017000-133018000	Weak transcription	Fetal Brain Male	brain
37	chr3:133017800-133019000	Enhancers	Brain Germinal Matrix	brain
38	chr3:133018000-133019800	Enhancers	Fetal Brain Male	brain
39	chr3:133018200-133021000	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr3:133018600-133019800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr3:133018800-133019200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr3:133018800-133019600	Enhancers	Fetal Brain Female	brain
43	chr3:133019000-133019600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr3:133019000-133020000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr3:133019000-133020400	Enhancers	NH-A	brain
46	chr3:133019000-133020600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr3:133019000-133024400	Weak transcription	Brain Germinal Matrix	brain
48	chr3:133019200-133020200	Weak transcription	HMEC	breast
49	chr3:133019200-133020400	Enhancers	Muscle Satellite Cultured Cells	--
50	chr3:133019200-133022400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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