Variant report

Variant	nsv961796
Chromosome Location	chr2:73944943-73945782
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	chr2:73945415..73947505-chr2:73953398..73955264,2	K562	blood:
2	chr2:73943613..73945709-chr2:73953816..73955383,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181130523	chr2:73944996-73944997	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs547702559	chr2:73945032-73945033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs3860464	chr2:73945045-73945046	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs529869296	chr2:73945062-73945063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs151191306	chr2:73945090-73945091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569725283	chr2:73945122-73945123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140321356	chr2:73945175-73945176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111350165	chr2:73945185-73945186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563884835	chr2:73945261-73945262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531358192	chr2:73945263-73945264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150210287	chr2:73945351-73945352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534991531	chr2:73945384-73945385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553596887	chr2:73945399-73945400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568684625	chr2:73945411-73945412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535609597	chr2:73945419-73945420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557144206	chr2:73945424-73945425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115794753	chr2:73945426-73945427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186316960	chr2:73945467-73945468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557850272	chr2:73945489-73945490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573154341	chr2:73945511-73945512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs372116019	chr2:73945521-73945522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549575567	chr2:73945529-73945530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs72915466	chr2:73945574-73945575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530024832	chr2:73945587-73945588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542036070	chr2:73945590-73945591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs12713789	chr2:73945600-73945601	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs12713790	chr2:73945611-73945612	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs552284937	chr2:73945614-73945615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs113547191	chr2:73945672-73945673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12713791	chr2:73945733-73945734	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:58)

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
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73900600-73954800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:73927800-73954800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:73935000-73955200	Weak transcription	Colonic Mucosa	Colon
4	chr2:73942800-73945000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr2:73943600-73945000	Flanking Active TSS	HepG2	liver
6	chr2:73943600-73955000	Weak transcription	Fetal Intestine Large	intestine
7	chr2:73943800-73945200	Weak transcription	Pancreas	Pancrea
8	chr2:73943800-73954800	Weak transcription	Brain Anterior Caudate	brain
9	chr2:73944000-73955000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr2:73944000-73958000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:73944200-73945000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr2:73944200-73945000	Enhancers	Ovary	ovary
13	chr2:73944200-73954800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:73944200-73954800	Weak transcription	A549	lung
15	chr2:73944200-73955000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:73944200-73955000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:73944200-73955000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr2:73944200-73955400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr2:73944400-73955000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:73944400-73955400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:73944400-73958000	Weak transcription	Osteobl	bone
22	chr2:73944600-73945000	Enhancers	Fetal Muscle Trunk	muscle
23	chr2:73944600-73946600	Weak transcription	Fetal Intestine Small	intestine
24	chr2:73944600-73954800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr2:73944600-73954800	Weak transcription	Spleen	Spleen
26	chr2:73944600-73963000	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr2:73944600-73963600	Weak transcription	Stomach Mucosa	stomach
28	chr2:73944800-73955000	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr2:73945000-73955000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr2:73945000-73955000	Weak transcription	Ovary	ovary
31	chr2:73945200-73946600	Enhancers	Pancreas	Pancrea

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