Variant report

Variant	nsv1012010
Chromosome Location	chr2:184785154-184802429
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	chr2:184604146..184606537-chr2:184783796..184786201,2	MCF-7	breast:

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

Extended variants
information (count: 483 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:483 , 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	rs193016776	chr2:184785164-184785165	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs182857986	chr2:184785188-184785189	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs72904015	chr2:184785235-184785236	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs146319825	chr2:184785237-184785238	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs187767557	chr2:184785250-184785251	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs527301442	chr2:184785268-184785269	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs11691406	chr2:184785277-184785278	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs563725942	chr2:184785286-184785287	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs532710253	chr2:184785449-184785450	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs191388142	chr2:184785472-184785473	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs569112579	chr2:184785515-184785516	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs71430119	chr2:184785531-184785532	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs79087595	chr2:184785595-184785596	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs184293899	chr2:184785609-184785610	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs568513214	chr2:184785734-184785735	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs111465542	chr2:184785779-184785780	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs554242210	chr2:184785787-184785788	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs375251015	chr2:184785791-184785792	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs192226915	chr2:184785796-184785797	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs539788864	chr2:184785798-184785799	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs185016708	chr2:184785823-184785824	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs146057504	chr2:184785883-184785884	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs57052935	chr2:184785916-184785917	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs56185957	chr2:184785918-184785919	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs142921696	chr2:184785957-184785958	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs190656552	chr2:184785980-184785981	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs182334284	chr2:184786003-184786004	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs187363383	chr2:184786008-184786009	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs540721544	chr2:184786009-184786010	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs552721549	chr2:184786011-184786012	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs188300682	chr2:184786057-184786058	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs374400630	chr2:184786080-184786081	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs180750579	chr2:184786128-184786129	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs546098698	chr2:184786177-184786178	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs370254086	chr2:184786179-184786180	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs563163386	chr2:184786188-184786189	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs531833794	chr2:184786212-184786213	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs151123833	chr2:184786250-184786251	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs375039051	chr2:184786273-184786274	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs185548763	chr2:184786291-184786292	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs527827495	chr2:184786297-184786298	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs570942940	chr2:184786315-184786316	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs547907533	chr2:184786362-184786363	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs570860960	chr2:184786398-184786399	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs189962462	chr2:184786405-184786406	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs553527377	chr2:184786452-184786453	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs115847565	chr2:184786493-184786494	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs114509075	chr2:184786546-184786547	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs535362041	chr2:184786574-184786575	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs555579320	chr2:184786579-184786580	ZNF genes & repeats	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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:184784800-184788000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:184791400-184791600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:184791400-184793200	Enhancers	Adipose Nuclei	Adipose
4	chr2:184791600-184791800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:184791800-184792200	Enhancers	Duodenum Smooth Muscle	Duodenum
6	chr2:184791800-184793000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:184792400-184792800	Enhancers	NH-A	brain
8	chr2:184792400-184793600	Enhancers	Fetal Lung	lung
9	chr2:184792600-184793000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:184792800-184793000	ZNF genes & repeats	Psoas Muscle	Psoas
11	chr2:184793000-184809000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:184794400-184795000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:184795800-184796000	Enhancers	Fetal Lung	lung
14	chr2:184800200-184800400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:184800400-184802000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:184802000-184802600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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