Variant report

Variant	nsv963935
Chromosome Location	chr2:167863774-167877239
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	chr2:167859522..167861996-chr2:167862862..167865085,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16852863	chr2:167875206-167875207	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs189104946	chr2:167875240-167875241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs368850307	chr2:167875278-167875279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559613361	chr2:167875281-167875282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs111618362	chr2:167875302-167875303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528530523	chr2:167875307-167875308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs367974372	chr2:167875322-167875323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs180999562	chr2:167875327-167875328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535904000	chr2:167875333-167875334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369787357	chr2:167875366-167875367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184694016	chr2:167875387-167875388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373271930	chr2:167875411-167875412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569892130	chr2:167875425-167875426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538458735	chr2:167875434-167875435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs151322181	chr2:167875442-167875443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189325884	chr2:167875451-167875452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372242692	chr2:167875455-167875456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534693927	chr2:167875457-167875458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs115962017	chr2:167875460-167875461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574473021	chr2:167875482-167875483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543363670	chr2:167875577-167875578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs16852864	chr2:167875589-167875590	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs10188981	chr2:167875603-167875604	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs546095482	chr2:167875681-167875682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181383082	chr2:167875738-167875739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs140586686	chr2:167875744-167875745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145820696	chr2:167875751-167875752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561788184	chr2:167875787-167875788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs530825047	chr2:167875828-167875829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550905497	chr2:167875852-167875853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs539094315	chr2:167875856-167875857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186808369	chr2:167875888-167875889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138376417	chr2:167875899-167875900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140915703	chr2:167875926-167875927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552124331	chr2:167875953-167875954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114754072	chr2:167875956-167875957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534748521	chr2:167875959-167875960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs372656320	chr2:167875975-167875976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554712868	chr2:167875984-167875985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549113284	chr2:167876064-167876065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550941425	chr2:167876091-167876092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568113211	chr2:167876166-167876167	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	18414403	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Neonatal seizures	20384724	CNVD
severe myoclonic epilepsy of infancy	18294202	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:167875200-167875600	Enhancers	Fetal Thymus	thymus
2	chr2:167875200-167875800	Enhancers	Primary T cells from cord blood	blood
3	chr2:167875400-167876200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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