Variant report

Variant	nsv874335
Chromosome Location	chr2:77404112-77488500
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	chr2:77426705..77429673-chr2:77438282..77439862,2	K562	blood:
2	chr2:77426705..77429673-chr2:77438282..77439862,2	K562	blood:

Extended variants
information (count: 1524 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1524 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1837425	chr2:77404112-77404113	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs552144105	chr2:77404118-77404119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567169501	chr2:77404130-77404131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4396753	chr2:77404170-77404171	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs539159938	chr2:77404182-77404183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555668371	chr2:77404262-77404263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192791675	chr2:77404264-77404265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537979539	chr2:77404270-77404271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115223765	chr2:77404285-77404286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115240536	chr2:77404293-77404294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556576644	chr2:77404325-77404326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577621903	chr2:77404327-77404328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184732671	chr2:77404333-77404334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557359611	chr2:77404353-77404354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553695873	chr2:77404390-77404391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147925416	chr2:77404405-77404406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542840451	chr2:77404418-77404419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374315307	chr2:77404459-77404460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4467298	chr2:77404471-77404472	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs531506299	chr2:77404481-77404482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543154854	chr2:77404511-77404512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs72911894	chr2:77404520-77404521	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs187265637	chr2:77404535-77404536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547394167	chr2:77404582-77404583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536926284	chr2:77404628-77404629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567204375	chr2:77404658-77404659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141267356	chr2:77404713-77404714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192086967	chr2:77404722-77404723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570717464	chr2:77404771-77404772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538397453	chr2:77404779-77404780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150322070	chr2:77404819-77404820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs13417062	chr2:77404843-77404844	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs538676466	chr2:77404965-77404966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553736714	chr2:77404981-77404982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs572076050	chr2:77404984-77404985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542578930	chr2:77405060-77405061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554801961	chr2:77405079-77405080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555349132	chr2:77405104-77405105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs368509736	chr2:77405113-77405114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576197930	chr2:77405135-77405136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192861133	chr2:77412202-77412203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541460601	chr2:77412236-77412237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183804753	chr2:77412239-77412240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576313122	chr2:77412251-77412252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs188442183	chr2:77412255-77412256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565160720	chr2:77412262-77412263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs369143759	chr2:77412265-77412266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548696346	chr2:77412275-77412276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs7558042	chr2:77412302-77412303	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs559587564	chr2:77412307-77412308	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	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
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Epilepsy	22083797	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77403800-77404600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:77403800-77404800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:77404800-77405200	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr2:77412200-77413000	Enhancers	HepG2	liver
5	chr2:77413000-77415200	Weak transcription	HepG2	liver
6	chr2:77415200-77415800	Enhancers	HepG2	liver
7	chr2:77415800-77417600	Weak transcription	HepG2	liver
8	chr2:77417600-77418000	Enhancers	HepG2	liver
9	chr2:77417800-77419200	Enhancers	Liver	Liver
10	chr2:77418000-77418600	Flanking Active TSS	HepG2	liver
11	chr2:77418600-77419200	Enhancers	HepG2	liver
12	chr2:77427000-77427600	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr2:77427600-77435800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr2:77435400-77435600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:77435600-77436600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:77435800-77436000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr2:77435800-77436400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:77436000-77438600	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr2:77436400-77437800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:77436600-77436800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:77436600-77439000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:77437000-77438200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:77437800-77439200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:77438200-77438800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr2:77438200-77439000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr2:77438600-77438800	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr2:77438800-77440200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr2:77439000-77440000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:77439200-77441200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr2:77440000-77441600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:77440200-77440600	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr2:77441200-77441600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr2:77446000-77447000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:77446200-77447000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:77447000-77453800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:77453800-77454000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:77454000-77454200	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr2:77454000-77454200	Enhancers	Adipose Nuclei	Adipose
39	chr2:77454200-77454400	Enhancers	Fetal Lung	lung
40	chr2:77454400-77455400	Weak transcription	Adipose Nuclei	Adipose
41	chr2:77454400-77455400	Weak transcription	Fetal Lung	lung
42	chr2:77454400-77455600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr2:77455400-77455800	Enhancers	Fetal Stomach	stomach
44	chr2:77455400-77456000	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr2:77455400-77456000	Enhancers	NHLF	lung
46	chr2:77455400-77456200	Enhancers	Adipose Nuclei	Adipose
47	chr2:77455400-77456200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr2:77455400-77456200	Enhancers	Fetal Brain Male	brain
49	chr2:77455400-77456200	Enhancers	Fetal Lung	lung
50	chr2:77455600-77456200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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