Variant report

Variant	nsv874323
Chromosome Location	chr2:77048896-77113949
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:77111498..77113879-chr21:46359661..46361542,2	MCF-7	breast:
2	chr2:77048830..77049446-chr2:77059405..77060125,2	MCF-7	breast:
3	chr2:77048830..77049446-chr2:77059405..77060125,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160256	chromatin interactions
ENSG00000183250	chromatin interactions

Extended variants
information (count: 1427 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1427 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201235197	chr2:77048896-77048897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574878345	chr2:77048925-77048926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542254752	chr2:77049006-77049007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548333659	chr2:77049008-77049009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs377261706	chr2:77049031-77049032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537141366	chr2:77049045-77049046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560845244	chr2:77049050-77049051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs17333122	chr2:77049098-77049099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534734623	chr2:77049126-77049127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540014445	chr2:77049130-77049131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149833433	chr2:77049171-77049172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4852419	chr2:77049269-77049270	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs542156847	chr2:77049281-77049282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557148975	chr2:77049291-77049292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4853278	chr2:77049296-77049297	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs543634781	chr2:77049366-77049367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545905462	chr2:77049396-77049397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs59070780	chr2:77049476-77049477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528069223	chr2:77049559-77049560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539811739	chr2:77049588-77049589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573278351	chr2:77050804-77050805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543775722	chr2:77050807-77050808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568657216	chr2:77050813-77050814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2138901	chr2:77050822-77050823	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs2138902	chr2:77050841-77050842	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs546479856	chr2:77050874-77050875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564521636	chr2:77050933-77050934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528727918	chr2:77050963-77050964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs11884591	chr2:77050971-77050972	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs562193661	chr2:77050978-77050979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529431159	chr2:77050989-77050990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs13410062	chr2:77051009-77051010	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs540543014	chr2:77051057-77051058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs116544209	chr2:77051084-77051085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539347485	chr2:77051095-77051096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190747823	chr2:77051122-77051123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs62172145	chr2:77051140-77051141	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs534019933	chr2:77051142-77051143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs151231211	chr2:77051170-77051171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140379924	chr2:77051203-77051204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs1517773	chr2:77051221-77051222	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs555694879	chr2:77051234-77051235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577614831	chr2:77051235-77051236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546170960	chr2:77051237-77051238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564837346	chr2:77051242-77051243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114967582	chr2:77051278-77051279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79207128	chr2:77051279-77051280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375801898	chr2:77051291-77051292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79523068	chr2:77051328-77051329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150362283	chr2:77051336-77051337	Enhancers Weak transcription	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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77039600-77049600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:77049400-77049600	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr2:77050800-77051200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:77051200-77051400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr2:77051200-77052400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:77051400-77051600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:77052400-77053000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr2:77052600-77052800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr2:77052600-77052800	Weak transcription	Psoas Muscle	Psoas
10	chr2:77052800-77053000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr2:77052800-77053000	ZNF genes & repeats	Psoas Muscle	Psoas
12	chr2:77052800-77053200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:77053000-77054000	Weak transcription	Psoas Muscle	Psoas
14	chr2:77053800-77054600	Enhancers	Brain Cingulate Gyrus	brain
15	chr2:77054000-77054200	Enhancers	Psoas Muscle	Psoas
16	chr2:77054000-77054600	Enhancers	Brain Hippocampus Middle	brain
17	chr2:77055400-77056000	Enhancers	Brain Anterior Caudate	brain
18	chr2:77055600-77056000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr2:77055600-77056200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:77066400-77067800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:77067000-77067600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:77067000-77067800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:77067000-77067800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr2:77067400-77067800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr2:77067800-77068000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr2:77076200-77088600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:77088600-77089200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr2:77088600-77089800	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr2:77088800-77089200	Enhancers	Dnd41	blood
30	chr2:77088800-77089600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:77089200-77089800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:77089200-77089800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:77089200-77090200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr2:77089600-77090000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:77089800-77094200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:77090200-77090400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr2:77094200-77095600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:77094400-77098400	Enhancers	Muscle Satellite Cultured Cells	--
39	chr2:77094600-77096400	Enhancers	HUVEC	blood vessel
40	chr2:77094800-77095200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:77094800-77095200	Enhancers	Fetal Lung	lung
42	chr2:77094800-77095600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:77095000-77095400	Enhancers	NH-A	brain
44	chr2:77095400-77097600	Weak transcription	NH-A	brain
45	chr2:77096400-77096800	Weak transcription	HUVEC	blood vessel
46	chr2:77096800-77098200	Enhancers	HUVEC	blood vessel
47	chr2:77097000-77097400	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr2:77097200-77097600	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr2:77097200-77097600	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr2:77097200-77098000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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