Variant report

Variant	nsv874321
Chromosome Location	chr2:77031247-77113949
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:77040309..77042734-chr2:77044070..77045998,2	K562	blood:
2	chr2:77048830..77049446-chr2:77059405..77060125,2	MCF-7	breast:
3	chr2:77048830..77049446-chr2:77059405..77060125,2	MCF-7	breast:
4	chr2:77111498..77113879-chr21:46359661..46361542,2	MCF-7	breast:
5	chr2:77040309..77042734-chr2:77044070..77045998,2	K562	blood:

Variant related genes	Relation type
ENSG00000160256	chromatin interactions
ENSG00000183250	chromatin interactions

Extended variants
information (count: 2368 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:2368 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6718129	chr2:77031247-77031248	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs186382210	chr2:77031274-77031275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191140030	chr2:77031285-77031286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183456883	chr2:77031313-77031314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540708079	chr2:77031320-77031321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185938111	chr2:77031321-77031322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528020211	chr2:77031340-77031341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543363332	chr2:77031373-77031374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147351055	chr2:77031378-77031379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139795326	chr2:77031390-77031391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145287960	chr2:77031398-77031399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373143834	chr2:77031403-77031404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs72815462	chr2:77031413-77031414	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs72815464	chr2:77031473-77031474	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs547502626	chr2:77031476-77031477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190816133	chr2:77031514-77031515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536110019	chr2:77031515-77031516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554454092	chr2:77031547-77031548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569467128	chr2:77031605-77031606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575207566	chr2:77031607-77031608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150987756	chr2:77031611-77031612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183074200	chr2:77031626-77031627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558608867	chr2:77031646-77031647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576897821	chr2:77031655-77031656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11126571	chr2:77031724-77031725	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs535954895	chr2:77031746-77031747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10559368	chr2:77031764-77031765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116396641	chr2:77031790-77031791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574501170	chr2:77031818-77031819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200584772	chr2:77031859-77031860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368080398	chr2:77031864-77031865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569827017	chr2:77031866-77031867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201085499	chr2:77031873-77031874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139086813	chr2:77031886-77031887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188158364	chr2:77031894-77031895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34303898	chr2:77031907-77031908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190459368	chr2:77031910-77031911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139554588	chr2:77031936-77031937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577115016	chr2:77031964-77031965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543690052	chr2:77031979-77031980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565358707	chr2:77031981-77031982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6747148	chr2:77031988-77031989	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs547888511	chr2:77032025-77032026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11126572	chr2:77032027-77032028	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs530042655	chr2:77032101-77032102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548073743	chr2:77032114-77032115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79340291	chr2:77032175-77032176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536831550	chr2:77032184-77032185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182985243	chr2:77032219-77032220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570647022	chr2:77032262-77032263	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:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77009000-77039000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:77009600-77038200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:77035000-77037000	Enhancers	Fetal Lung	lung
4	chr2:77035200-77035400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:77035600-77036600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:77035800-77036200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:77035800-77036200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr2:77036000-77036200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr2:77036200-77041800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr2:77036400-77036600	Enhancers	Fetal Kidney	kidney
11	chr2:77036600-77037000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:77036600-77038600	Weak transcription	Fetal Kidney	kidney
13	chr2:77036800-77037000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr2:77036800-77038400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr2:77037000-77038200	Weak transcription	Fetal Lung	lung
16	chr2:77037200-77038200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr2:77038200-77039000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr2:77038200-77039600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr2:77038200-77040200	Enhancers	Fetal Lung	lung
20	chr2:77038400-77038600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr2:77038400-77039800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr2:77038600-77039200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr2:77038600-77039400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr2:77038600-77039400	Enhancers	Fetal Kidney	kidney
25	chr2:77039000-77039400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr2:77039200-77039400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr2:77039200-77039400	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr2:77039200-77039600	Enhancers	Colon Smooth Muscle	Colon
29	chr2:77039400-77039600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr2:77039400-77042200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr2:77039600-77039800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:77039600-77042200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr2:77039600-77049600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr2:77039800-77041800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr2:77040000-77041800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:77041800-77042600	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr2:77041800-77042800	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr2:77041800-77043400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:77042200-77042800	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr2:77042200-77042800	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr2:77048600-77048800	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr2:77049400-77049600	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr2:77050800-77051200	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr2:77051200-77051400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr2:77051200-77052400	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr2:77051400-77051600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr2:77052400-77053000	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr2:77052600-77052800	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr2:77052600-77052800	Weak transcription	Psoas Muscle	Psoas
50	chr2:77052800-77053000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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