Variant report

Variant	esv3450932
Chromosome Location	chr2:72491349-72491773
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SETDB1	chr2:72491753-72492136	U2OS	brain:	n/a	n/a

Variant related genes	Relation type
EXOC6B	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371246269	chr2:72491360-72491361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs144364450	chr2:72491370-72491371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553890284	chr2:72491378-72491379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554825316	chr2:72491425-72491426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576269991	chr2:72491426-72491427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537550068	chr2:72491430-72491431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559044720	chr2:72491465-72491466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs13392314	chr2:72491466-72491467	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs541401126	chr2:72491468-72491469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112587221	chr2:72491508-72491509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150753494	chr2:72491553-72491554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534119318	chr2:72491560-72491561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs183594179	chr2:72491561-72491562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201227146	chr2:72491598-72491599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555768696	chr2:72491635-72491636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs375143291	chr2:72491652-72491653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530967117	chr2:72491685-72491686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549514159	chr2:72491692-72491693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564981376	chr2:72491702-72491703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188233677	chr2:72491769-72491770	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Hepatocellular carcinoma	16750200	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Acute myeloid leukemia	21251322	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72485200-72501800	Weak transcription	HSMMtube	muscle
2	chr2:72488200-72496600	Weak transcription	Psoas Muscle	Psoas
3	chr2:72489200-72508200	Weak transcription	Aorta	Aorta
4	chr2:72489800-72491400	Enhancers	Brain Substantia Nigra	brain
5	chr2:72490000-72491400	Enhancers	Fetal Heart	heart
6	chr2:72490200-72491400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:72490200-72491400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:72490200-72491400	Enhancers	Brain Angular Gyrus	brain
9	chr2:72490200-72491400	Enhancers	Brain Cingulate Gyrus	brain
10	chr2:72490200-72491400	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr2:72490400-72491400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:72490400-72491400	Enhancers	Duodenum Mucosa	Duodenum
13	chr2:72490400-72491400	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr2:72490400-72495800	Weak transcription	Pancreas	Pancrea
15	chr2:72490600-72491400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr2:72490600-72491400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:72490600-72491400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr2:72490600-72491400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:72490600-72491400	Enhancers	Rectal Smooth Muscle	rectum
20	chr2:72490600-72492200	Enhancers	Colon Smooth Muscle	Colon
21	chr2:72490600-72497200	Weak transcription	Fetal Muscle Leg	muscle
22	chr2:72491000-72491400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:72491000-72491600	Enhancers	Fetal Stomach	stomach
24	chr2:72491200-72491400	Enhancers	Right Ventricle	heart
25	chr2:72491200-72495800	Weak transcription	Left Ventricle	heart
26	chr2:72491200-72497000	Weak transcription	Right Atrium	heart
27	chr2:72491200-72502200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:72491400-72492000	Weak transcription	Brain Angular Gyrus	brain
29	chr2:72491400-72495800	Weak transcription	Right Ventricle	heart
30	chr2:72491400-72496400	Weak transcription	Fetal Heart	heart

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