Variant report

Variant	nsv584005
Chromosome Location	chr2:185865400-185996258
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:185911695..185914486-chr2:185915907..185918059,2	K562	blood:
2	chr2:185911695..185914486-chr2:185915907..185918059,2	K562	blood:
3	chr2:185909435..185911904-chr2:185913045..185915805,2	K562	blood:
4	chr2:185878275..185880329-chr2:185883779..185885929,2	K562	blood:
5	chr2:185899066..185901798-chr2:185925751..185927670,2	K562	blood:
6	chr2:185878275..185880329-chr2:185883779..185885929,2	K562	blood:
7	chr2:185909435..185911904-chr2:185913045..185915805,2	K562	blood:
8	chr2:185899066..185901798-chr2:185925751..185927670,2	K562	blood:
9	chr2:185990403..185991343-chr5:119236365..119236898,2	MCF-7	breast:

No data

Extended variants
information (count: 484 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:484 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13386401	chr2:185865400-185865401	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs377213344	chr2:185865418-185865419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534162805	chr2:185865422-185865423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555919358	chr2:185865456-185865457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182575089	chr2:185865463-185865464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544510077	chr2:185865470-185865471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186208936	chr2:185865548-185865549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs36089859	chr2:185865602-185865603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556402084	chr2:185865623-185865624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189832090	chr2:185865626-185865627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545363751	chr2:185865677-185865678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564052445	chr2:185865680-185865681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12477914	chr2:185865740-185865741	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs567372954	chr2:185865774-185865775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540091737	chr2:185865787-185865788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs4528726	chr2:185867859-185867860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2217370	chr2:185867871-185867872	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs4619566	chr2:185867884-185867885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs141958946	chr2:185867896-185867897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs398042822	chr2:185867921-185867922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs71011067	chr2:185867932-185867933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548085608	chr2:185868205-185868206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146316241	chr2:185868240-185868241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188999488	chr2:185868269-185868270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555394044	chr2:185868329-185868330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567416572	chr2:185868348-185868349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537943519	chr2:185868402-185868403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs367605407	chr2:185868484-185868485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562168850	chr2:185868485-185868486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76562013	chr2:185868500-185868501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139405246	chr2:185868529-185868530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544849355	chr2:185868675-185868676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544532729	chr2:185868678-185868679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181371530	chr2:185868705-185868706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562866656	chr2:185868740-185868741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184726205	chr2:185868767-185868768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190387357	chr2:185868798-185868799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531550204	chr2:185868800-185868801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573203363	chr2:185868803-185868804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71765533	chr2:185868804-185868805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543519362	chr2:185868809-185868810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567205260	chr2:185868815-185868816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570686897	chr2:185868844-185868845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111446690	chr2:185868845-185868846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35301347	chr2:185868852-185868853	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs532761861	chr2:185868861-185868862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1429423	chr2:185868877-185868878	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs181470448	chr2:185868903-185868904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530326436	chr2:185868911-185868912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571497994	chr2:185868921-185868922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Autism	18522746	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	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
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Autism	22543975	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:185865000-185865800	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr2:185867800-185868000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr2:185868200-185872400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:185869600-185871800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr2:185869800-185870200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:185869800-185871800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr2:185870000-185870600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr2:185870200-185871000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr2:185870400-185870800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr2:185871200-185871600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:185871200-185871800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:185872000-185872200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:185872200-185877200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:185875600-185875800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
15	chr2:185877200-185878200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:185877200-185878200	ZNF genes & repeats	Adipose Nuclei	Adipose
17	chr2:185877200-185878200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
18	chr2:185992000-185992800	Enhancers	Muscle Satellite Cultured Cells	--
19	chr2:185993200-185994600	Enhancers	Fetal Brain Male	brain

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