Variant report

Variant	nsv461315
Chromosome Location	chr4:30348053-30658535
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:30657504..30660121-chr4:30665099..30668575,3	MCF-7	breast:
2	chr4:30510596..30512803-chr4:30520292..30522135,2	MCF-7	breast:
3	chr4:30657308..30659820-chr4:30660104..30662010,2	MCF-7	breast:
4	chr4:30594643..30596652-chr4:30599463..30601817,2	K562	blood:
5	chr4:30594643..30596652-chr4:30599463..30601817,2	K562	blood:
6	chr4:30545897..30546733-chr8:13180782..13181355,2	MCF-7	breast:
7	chr4:30381873..30382689-chr4:30715704..30716654,2	MCF-7	breast:
8	chr4:30510596..30512803-chr4:30520292..30522135,2	MCF-7	breast:
9	chr4:29972062..29972801-chr4:30382123..30382658,2	MCF-7	breast:
10	chr17:57920746..57922249-chr4:30413419..30414956,2	MCF-7	breast:

No data

Extended variants
information (count: 4059 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:4059 , 50 per page) page: 1 2 3 4 5 6 7 ... 82

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543262395	chr4:30362449-30362450	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs113034183	chr4:30362456-30362457	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs111297612	chr4:30362480-30362481	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs571524673	chr4:30362489-30362490	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs537256768	chr4:30362496-30362497	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs112170770	chr4:30362525-30362526	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs550764569	chr4:30362532-30362533	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs567397765	chr4:30362571-30362572	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs573032687	chr4:30362581-30362582	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs146025683	chr4:30362598-30362599	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs73106221	chr4:30362630-30362631	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs189872898	chr4:30362640-30362641	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs10470787	chr4:30362641-30362642	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs577889692	chr4:30362661-30362662	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs113302028	chr4:30362665-30362666	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs543637939	chr4:30362678-30362679	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs563527623	chr4:30362694-30362695	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs139643981	chr4:30362703-30362704	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs543106184	chr4:30362718-30362719	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs575762632	chr4:30362725-30362726	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs559544313	chr4:30362786-30362787	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs528493233	chr4:30362850-30362851	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs551451508	chr4:30362870-30362871	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs565197562	chr4:30362929-30362930	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs73106222	chr4:30362947-30362948	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs182503912	chr4:30363032-30363033	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs74379182	chr4:30363056-30363057	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs536007334	chr4:30363068-30363069	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs76748138	chr4:30363074-30363075	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs566411359	chr4:30363110-30363111	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs79939456	chr4:30363112-30363113	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs558107761	chr4:30363122-30363123	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs187250075	chr4:30363123-30363124	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs537341936	chr4:30363159-30363160	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs557182872	chr4:30363172-30363173	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs573900205	chr4:30363192-30363193	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs369399248	chr4:30367012-30367013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115423011	chr4:30367027-30367028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571402782	chr4:30367046-30367047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs75658275	chr4:30367084-30367085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs78047664	chr4:30367097-30367098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573582755	chr4:30367130-30367131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs201364877	chr4:30367146-30367147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535830361	chr4:30367160-30367161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556039914	chr4:30367170-30367171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs537779978	chr4:30367218-30367219	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs186810976	chr4:30367240-30367241	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs78624773	chr4:30367256-30367257	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs564323976	chr4:30367322-30367323	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs77755655	chr4:30367338-30367339	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Tetralogy of Fallot	22912587	CNVD
Renal cell carcinoma	18194544	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:246 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:30362400-30363200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:30367000-30367200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:30367200-30367400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:30367400-30367800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:30367800-30368200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:30371600-30372400	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr4:30371800-30372200	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr4:30371800-30372200	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr4:30374600-30375200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:30382000-30382200	Enhancers	HUVEC	blood vessel
11	chr4:30382200-30386600	Weak transcription	HUVEC	blood vessel
12	chr4:30383600-30384600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr4:30383800-30384200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr4:30383800-30384600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr4:30386600-30388400	Enhancers	HUVEC	blood vessel
16	chr4:30387400-30388400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr4:30387400-30388600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:30388400-30397600	Weak transcription	HUVEC	blood vessel
19	chr4:30390200-30390800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr4:30390400-30390800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr4:30397600-30398200	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr4:30397600-30398400	Enhancers	HUVEC	blood vessel
23	chr4:30398200-30399000	Enhancers	Placenta Amnion	Placenta Amnion
24	chr4:30398400-30398800	Flanking Active TSS	HUVEC	blood vessel
25	chr4:30398400-30399200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr4:30398400-30399400	Enhancers	Muscle Satellite Cultured Cells	--
27	chr4:30398600-30399400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr4:30398600-30399400	Enhancers	Hela-S3	cervix
29	chr4:30398800-30399200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr4:30398800-30399800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr4:30398800-30400600	Enhancers	HUVEC	blood vessel
32	chr4:30399000-30399400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:30399000-30399800	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr4:30399000-30399800	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr4:30399800-30400400	Enhancers	Placenta Amnion	Placenta Amnion
36	chr4:30400400-30401600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr4:30401000-30402000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr4:30401600-30403000	Enhancers	Placenta Amnion	Placenta Amnion
39	chr4:30408400-30408800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr4:30414400-30415400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:30418400-30418800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr4:30418400-30418800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr4:30419600-30426200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr4:30431000-30433200	Enhancers	HUVEC	blood vessel
45	chr4:30431400-30432600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr4:30431400-30432600	Enhancers	Muscle Satellite Cultured Cells	--
47	chr4:30431600-30432200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr4:30431800-30432400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr4:30432000-30432400	Enhancers	NH-A	brain
50	chr4:30443000-30443200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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