Variant report

Variant	nsv874336
Chromosome Location	chr2:77515995-77568716
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	chr1:153937747..153940062-chr2:77544523..77546591,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273026	chromatin interactions
ENSG00000143578	chromatin interactions

Extended variants
information (count: 1250 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1250 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10180141	chr2:77515995-77515996	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs10167787	chr2:77515997-77515998	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs375460222	chr2:77516012-77516013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564951982	chr2:77516057-77516058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs397692964	chr2:77516064-77516065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528631865	chr2:77516078-77516079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568482954	chr2:77516081-77516082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79714277	chr2:77516088-77516089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567377241	chr2:77516094-77516095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10170090	chr2:77516113-77516114	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs149518997	chr2:77516132-77516133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs56776892	chr2:77516136-77516137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186698943	chr2:77516139-77516140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551192934	chr2:77516166-77516167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566317422	chr2:77516167-77516168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10170183	chr2:77516171-77516172	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs370619519	chr2:77516205-77516206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555440769	chr2:77516240-77516241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573612072	chr2:77516247-77516248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75623114	chr2:77516256-77516257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs67004677	chr2:77516352-77516353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs377465420	chr2:77516357-77516358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555855631	chr2:77516361-77516362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368490290	chr2:77516367-77516368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576034145	chr2:77516385-77516386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546503047	chr2:77516411-77516412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558426650	chr2:77516434-77516435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs201984584	chr2:77516436-77516437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs115744990	chr2:77516469-77516470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs115091771	chr2:77516476-77516477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs10170684	chr2:77516483-77516484	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs146458689	chr2:77516499-77516500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562450766	chr2:77516505-77516506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190616124	chr2:77516506-77516507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183233546	chr2:77516603-77516604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574325127	chr2:77516660-77516661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533093483	chr2:77516683-77516684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551256352	chr2:77516713-77516714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186420373	chr2:77516723-77516724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541482965	chr2:77516759-77516760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs115045146	chr2:77516760-77516761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548869443	chr2:77516788-77516789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560360871	chr2:77516805-77516806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74705049	chr2:77516823-77516824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537520553	chr2:77516824-77516825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369394750	chr2:77516835-77516836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12105416	chr2:77516843-77516844	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs577703181	chr2:77516891-77516892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113931699	chr2:77516913-77516914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540645096	chr2:77516914-77516915	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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77515800-77516600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:77515800-77516800	Enhancers	Adipose Nuclei	Adipose
3	chr2:77516600-77517000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:77517000-77517400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr2:77523800-77524200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr2:77523800-77524200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr2:77524000-77524200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr2:77529600-77529800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:77529800-77530000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:77529800-77535400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:77535400-77536400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr2:77535400-77536600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:77535600-77536000	Enhancers	Fetal Lung	lung
14	chr2:77536000-77537600	Weak transcription	Fetal Lung	lung
15	chr2:77537600-77538000	Enhancers	Fetal Lung	lung
16	chr2:77538000-77541600	Weak transcription	Fetal Lung	lung
17	chr2:77541600-77542200	Enhancers	Fetal Lung	lung
18	chr2:77541800-77542200	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr2:77548200-77548600	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr2:77548400-77550200	Enhancers	Fetal Lung	lung
21	chr2:77548600-77549000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr2:77549000-77549200	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr2:77549200-77549600	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr2:77549200-77554000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr2:77550200-77552200	Weak transcription	Fetal Lung	lung
26	chr2:77552200-77552800	Enhancers	Fetal Lung	lung
27	chr2:77553800-77556000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr2:77553800-77556200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr2:77554000-77554200	Enhancers	H1 Cell Line	embryonic stem cell
30	chr2:77554000-77556000	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr2:77554000-77556200	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr2:77554000-77556400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr2:77554000-77556400	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr2:77554400-77555400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr2:77554400-77556400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:77554600-77556200	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr2:77555000-77555800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr2:77555000-77556200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr2:77555000-77556200	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr2:77555200-77556200	Enhancers	H9 Cell Line	embryonic stem cell
41	chr2:77555400-77556200	Enhancers	H1 Cell Line	embryonic stem cell
42	chr2:77555600-77556000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr2:77555600-77556400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr2:77555800-77556200	Enhancers	Fetal Brain Male	brain
45	chr2:77556000-77557000	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr2:77556400-77557000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr2:77556400-77559800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr2:77557000-77557200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr2:77557000-77557200	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr2:77559800-77561000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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