Variant report

Variant	esv3411884
Chromosome Location	chr3:22771517-22772011
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:22770781..22772111-chr3:23001246..23002368,7	MCF-7	breast:
2	chr3:22770066..22771939-chr3:22999640..23001789,2	MCF-7	breast:
3	chr3:22771212..22772136-chr3:22903356..22904056,6	MCF-7	breast:
4	chr3:22771477..22772449-chr3:22985846..22986742,2	MCF-7	breast:
5	chr3:22771112..22772132-chr3:22928764..22929789,6	MCF-7	breast:
6	chr3:22771239..22772148-chr3:22928875..22929886,10	MCF-7	breast:
7	chr3:22771584..22772119-chr3:23001665..23002525,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548927181	chr3:22771521-22771522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs150970463	chr3:22771556-22771557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs1162135	chr3:22771577-22771578	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs140773716	chr3:22771614-22771615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs367778069	chr3:22771627-22771628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79155838	chr3:22771661-22771662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149728884	chr3:22771662-22771663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561857574	chr3:22771688-22771689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538881138	chr3:22771723-22771724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574125429	chr3:22771763-22771764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1520840	chr3:22771773-22771774	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs147818599	chr3:22771814-22771815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77978654	chr3:22771840-22771841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546316905	chr3:22771883-22771884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs141462134	chr3:22771887-22771888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565348631	chr3:22771892-22771893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs113222164	chr3:22771922-22771923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541571329	chr3:22771947-22771948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559760670	chr3:22771957-22771958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs116812338	chr3:22771982-22771983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535747660	chr3:22771999-22772000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	20688739	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:22769000-22772800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:22771000-22772000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:22771000-22773000	Weak transcription	HMEC	breast
4	chr3:22771000-22776400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr3:22771800-22772400	Enhancers	Liver	Liver
6	chr3:22772000-22772200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links