Variant report

Variant	nsv979336
Chromosome Location	chr2:78556604-78567711
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	chr2:78552005..78554249-chr2:78556086..78558009,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571123639	chr2:78556706-78556707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs192036717	chr2:78556715-78556716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553137781	chr2:78556718-78556719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566693402	chr2:78556746-78556747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564414898	chr2:78556752-78556753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535654501	chr2:78556758-78556759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182740353	chr2:78556805-78556806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531854205	chr2:78556868-78556869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs62166076	chr2:78556942-78556943	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs556710231	chr2:78556945-78556946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577051238	chr2:78556958-78556959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545745309	chr2:78556961-78556962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559706701	chr2:78557019-78557020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528249205	chr2:78557109-78557110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187762224	chr2:78557118-78557119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115222341	chr2:78557153-78557154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529798585	chr2:78557173-78557174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547975822	chr2:78557176-78557177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10166502	chr2:78557212-78557213	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs111517333	chr2:78557213-78557214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs66471817	chr2:78557214-78557215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192364269	chr2:78557234-78557235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546839661	chr2:78557239-78557240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371181935	chr2:78557242-78557243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554082146	chr2:78557243-78557244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559754477	chr2:78557250-78557251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530118603	chr2:78557252-78557253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566829988	chr2:78557282-78557283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535642239	chr2:78557311-78557312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549211784	chr2:78557341-78557342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552174863	chr2:78557350-78557351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs144958390	chr2:78557398-78557399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536779956	chr2:78557408-78557409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114500259	chr2:78557415-78557416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576736831	chr2:78557433-78557434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs941019	chr2:78557471-78557472	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs116346259	chr2:78557500-78557501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs372961841	chr2:78557514-78557515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs149049757	chr2:78557565-78557566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs542044349	chr2:78557574-78557575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561894171	chr2:78557584-78557585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575680752	chr2:78557642-78557643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555953393	chr2:78557648-78557649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs186753675	chr2:78557655-78557656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192320135	chr2:78557660-78557661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143045479	chr2:78557667-78557668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546627573	chr2:78557695-78557696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560408650	chr2:78557702-78557703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs529569396	chr2:78557706-78557707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs116138758	chr2:78557716-78557717	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	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
Epilepsy	22083797	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:78556600-78557800	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr2:78557000-78557600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr2:78557000-78557600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr2:78557000-78558000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:78557200-78557800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr2:78557400-78557600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr2:78557400-78557800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr2:78557400-78557800	Enhancers	HUES6 Cell Line	embryonic stem cell

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