Variant report

Variant	esv3342302
Chromosome Location	chr3:100598342-100598507
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	chr3:100595522..100598378-chr3:100600055..100603377,3	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377036499	chr3:100598344-100598345	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs556480110	chr3:100598352-100598353	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs578015491	chr3:100598357-100598358	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs564226227	chr3:100598391-100598392	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs1318859	chr3:100598403-100598404	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs560384018	chr3:100598416-100598417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs143534112	chr3:100598434-100598435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs367681112	chr3:100598454-100598455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs975536	chr3:100598457-100598458	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs548952353	chr3:100598461-100598462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562672508	chr3:100598486-100598487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531711787	chr3:100598493-100598494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	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
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21785460	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100583800-100603400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr3:100589200-100599000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:100593200-100601600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:100594400-100599000	Weak transcription	Psoas Muscle	Psoas
5	chr3:100594400-100618200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr3:100594600-100598600	Weak transcription	HSMMtube	muscle
7	chr3:100594600-100598800	Weak transcription	NHLF	lung
8	chr3:100594600-100616800	Weak transcription	Ovary	ovary
9	chr3:100594800-100598400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:100594800-100598600	Weak transcription	NHDF-Ad	bronchial
11	chr3:100594800-100599800	Weak transcription	Hela-S3	cervix
12	chr3:100595000-100598600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr3:100595200-100600000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:100595400-100599200	Weak transcription	Osteobl	bone
15	chr3:100596800-100599200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:100597400-100598600	Enhancers	Colon Smooth Muscle	Colon
17	chr3:100597400-100599600	Enhancers	Fetal Muscle Leg	muscle
18	chr3:100597600-100600200	Enhancers	Adipose Nuclei	Adipose
19	chr3:100597800-100599200	Enhancers	Stomach Smooth Muscle	stomach
20	chr3:100597800-100599800	Enhancers	Fetal Lung	lung
21	chr3:100597800-100599800	Enhancers	Fetal Stomach	stomach
22	chr3:100598000-100598600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr3:100598000-100599200	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr3:100598000-100599600	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr3:100598000-100599600	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr3:100598200-100598400	Flanking Active TSS	Brain Anterior Caudate	brain
27	chr3:100598200-100599400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr3:100598400-100598800	Enhancers	Brain Anterior Caudate	brain
29	chr3:100598400-100600200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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