Variant report

Variant	nsv2764
Chromosome Location	chr2:67977409-68022876
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:68003505..68005980-chr2:68007182..68009657,2	K562	blood:
2	chr2:68003505..68005980-chr2:68007182..68009657,2	K562	blood:
3	chr2:67976220..67978778-chr2:67980908..67982749,2	K562	blood:
4	chr2:67985839..67988119-chr2:67990771..67993170,2	MCF-7	breast:
5	chr2:67976220..67978778-chr2:67980908..67982749,2	K562	blood:
6	chr2:67625560..67628357-chr2:68014133..68016829,2	K562	blood:
7	chr2:67985839..67988119-chr2:67990771..67993170,2	MCF-7	breast:

Extended variants
information (count: 1738 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1738 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141046466	chr2:67977429-67977430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs542526649	chr2:67977512-67977513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149815476	chr2:67977528-67977529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs62155435	chr2:67977529-67977530	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs1367470	chr2:67977574-67977575	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs543436452	chr2:67977601-67977602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145778201	chr2:67977613-67977614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1367469	chr2:67977614-67977615	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs536123202	chr2:67977668-67977669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192343314	chr2:67977677-67977678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs75116938	chr2:67977693-67977694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185304614	chr2:67977701-67977702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372956993	chr2:67977723-67977724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557511120	chr2:67977797-67977798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545579968	chr2:67977801-67977802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190228122	chr2:67977819-67977820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147047648	chr2:67977865-67977866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375567899	chr2:67977872-67977873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568851236	chr2:67977884-67977885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542438706	chr2:67977887-67977888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376571937	chr2:67977894-67977895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559218632	chr2:67977961-67977962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs193269486	chr2:67977972-67977973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572862340	chr2:67977978-67977979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184198947	chr2:67977983-67977984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138285918	chr2:67977992-67977993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12713602	chr2:67977997-67977998	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs550023810	chr2:67978036-67978037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189592445	chr2:67978077-67978078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563807669	chr2:67978087-67978088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370935522	chr2:67978106-67978107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561165917	chr2:67978158-67978159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374319387	chr2:67978211-67978212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs111368905	chr2:67978215-67978216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs142320763	chr2:67978258-67978259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs4516416	chr2:67978287-67978288	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs571168784	chr2:67978343-67978344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs371090319	chr2:67978361-67978362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537082354	chr2:67978384-67978385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543738995	chr2:67978392-67978393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573445770	chr2:67978402-67978403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563332082	chr2:67978438-67978439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532585890	chr2:67978463-67978464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536028705	chr2:67978486-67978487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552758726	chr2:67978492-67978493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs181160999	chr2:67978509-67978510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552291591	chr2:67978569-67978570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs185652764	chr2:67978576-67978577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs147010663	chr2:67978674-67978675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376436742	chr2:67978677-67978678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	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
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Colorectal cancer	16272173	CNVD

Chromatin state (count:158 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67977200-67977800	Enhancers	Fetal Stomach	stomach
2	chr2:67977200-67978400	Enhancers	Rectal Smooth Muscle	rectum
3	chr2:67977400-67977800	Enhancers	Duodenum Smooth Muscle	Duodenum
4	chr2:67977400-67978600	Enhancers	Colon Smooth Muscle	Colon
5	chr2:67977600-67978200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr2:67977800-67980200	Weak transcription	Fetal Stomach	stomach
7	chr2:67978000-67980600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr2:67978200-67980400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:67978400-67979400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:67978600-67978800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:67978600-67979200	Enhancers	Pancreas	Pancrea
12	chr2:67978600-67979400	Weak transcription	Colon Smooth Muscle	Colon
13	chr2:67979000-67979800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:67979200-67979800	Weak transcription	Pancreas	Pancrea
15	chr2:67979200-67981000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:67979200-67981000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:67979400-67980600	Enhancers	HSMMtube	muscle
18	chr2:67979400-67980800	Enhancers	Colon Smooth Muscle	Colon
19	chr2:67979400-67980800	Enhancers	Rectal Smooth Muscle	rectum
20	chr2:67979400-67981000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:67979600-67980800	Enhancers	NHEK	skin
22	chr2:67979800-67980000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:67979800-67980000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:67979800-67980000	Enhancers	Pancreas	Pancrea
25	chr2:67979800-67980800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:67979800-67980800	Enhancers	NHDF-Ad	bronchial
27	chr2:67980000-67980600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:67980000-67980600	Enhancers	Fetal Heart	heart
29	chr2:67980000-67980600	Enhancers	NHLF	lung
30	chr2:67980000-67980800	Enhancers	Muscle Satellite Cultured Cells	--
31	chr2:67980000-67981000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:67980200-67980800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:67980200-67980800	Enhancers	Stomach Smooth Muscle	stomach
34	chr2:67980200-67981000	Enhancers	Fetal Stomach	stomach
35	chr2:67980200-67981000	Enhancers	HMEC	breast
36	chr2:67980400-67980600	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr2:67980800-67981000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:67980800-67982400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr2:67980800-67982600	Weak transcription	Colon Smooth Muscle	Colon
40	chr2:67981000-68003400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:67981200-67981600	Weak transcription	Fetal Stomach	stomach
42	chr2:67982400-67982800	Enhancers	Brain Germinal Matrix	brain
43	chr2:67982400-67983200	Enhancers	Rectal Smooth Muscle	rectum
44	chr2:67982600-67982800	Enhancers	Fetal Stomach	stomach
45	chr2:67982600-67983400	Enhancers	Colon Smooth Muscle	Colon
46	chr2:67982800-67983800	Weak transcription	Brain Germinal Matrix	brain
47	chr2:67983800-67984200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr2:67983800-67984200	Enhancers	Brain Germinal Matrix	brain
49	chr2:67983800-67984800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:67984000-67984400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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