Variant report

Variant	nsv1004839
Chromosome Location	chr2:184794400-184811658
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF804A-2	chr2:184799099-184799228	NONHSAT075946
2	lnc-ZNF804A-2	chr2:184799100-184799228	XLOC_001779

Extended variants
information (count: 538 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:538 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10173641	chr2:184794400-184794401	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528349052	chr2:184794430-184794431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs115007565	chr2:184794433-184794434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536941231	chr2:184794559-184794560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189708997	chr2:184794571-184794572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530565833	chr2:184794610-184794611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181749818	chr2:184794617-184794618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs76238640	chr2:184794708-184794709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376724009	chr2:184794765-184794766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185904683	chr2:184794818-184794819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs200531982	chr2:184794849-184794850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566403344	chr2:184794850-184794851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535319064	chr2:184794877-184794878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557172265	chr2:184794904-184794905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371960692	chr2:184794918-184794919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562748562	chr2:184794976-184794977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533324954	chr2:184794996-184794997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576971694	chr2:184795015-184795016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557001248	chr2:184795034-184795035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545995188	chr2:184795051-184795052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190618446	chr2:184795119-184795120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553134351	chr2:184795134-184795135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542641521	chr2:184795144-184795145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559307787	chr2:184795186-184795187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572840854	chr2:184795208-184795209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572962298	chr2:184795214-184795215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545284876	chr2:184795248-184795249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182046919	chr2:184795309-184795310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566809188	chr2:184795320-184795321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564935052	chr2:184795402-184795403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533813515	chr2:184795410-184795411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530688560	chr2:184795446-184795447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186382100	chr2:184795462-184795463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548700787	chr2:184795499-184795500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140540737	chr2:184795522-184795523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529790944	chr2:184795523-184795524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145630359	chr2:184795548-184795549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566474558	chr2:184795572-184795573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567393522	chr2:184795630-184795631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78617772	chr2:184795647-184795648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561525030	chr2:184795661-184795662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190881031	chr2:184795694-184795695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs704864	chr2:184795725-184795726	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs543770069	chr2:184795792-184795793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563975157	chr2:184795901-184795902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs182689149	chr2:184795979-184795980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs7559536	chr2:184795999-184796000	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs530178473	chr2:184796000-184796001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552329228	chr2:184796050-184796051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370354973	chr2:184796090-184796091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:184793000-184809000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:184794400-184795000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:184795800-184796000	Enhancers	Fetal Lung	lung
4	chr2:184800200-184800400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:184800400-184802000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:184802000-184802600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:184809000-184809200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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