Variant report

Variant	nsv886575
Chromosome Location	chr6:120509191-120651554
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:120637651..120640363-chr6:120645776..120648161,2	K562	blood:
2	chr17:57913954..57915888-chr6:120581005..120582642,2	MCF-7	breast:
3	chr3:164212016..164212593-chr6:120624651..120625343,2	MCF-7	breast:
4	chr6:120550876..120551654-chr6:120699476..120700307,2	MCF-7	breast:
5	chr6:120637651..120640363-chr6:120645776..120648161,2	K562	blood:
6	chr6:120532090..120534309-chr6:120536894..120539372,2	MCF-7	breast:
7	chr6:120532090..120534309-chr6:120536894..120539372,2	MCF-7	breast:
8	chr6:120499441..120501978-chr6:120507882..120510066,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000062716	chromatin interactions

Extended variants
information (count: 1719 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:1719 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs155162	chr6:120509191-120509192	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs73519102	chr6:120514417-120514418	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs577811386	chr6:120514420-120514421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs113199964	chr6:120514487-120514488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187634440	chr6:120514501-120514502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191952317	chr6:120514520-120514521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563103018	chr6:120514524-120514525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528916525	chr6:120514569-120514570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142009525	chr6:120514575-120514576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143846101	chr6:120514707-120514708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551834469	chr6:120514720-120514721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs9398551	chr6:120514775-120514776	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs261761	chr6:120514782-120514783	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs73521004	chr6:120514803-120514804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571821764	chr6:120514824-120514825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs527945789	chr6:120514876-120514877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547705722	chr6:120514890-120514891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534187495	chr6:120514903-120514904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567647358	chr6:120514912-120514913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536233064	chr6:120514917-120514918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556182859	chr6:120514940-120514941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570050647	chr6:120514968-120514969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs372230208	chr6:120515012-120515013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539128325	chr6:120515030-120515031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs261762	chr6:120515071-120515072	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs186859743	chr6:120515114-120515115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540502911	chr6:120515142-120515143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554084722	chr6:120515177-120515178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191317176	chr6:120515227-120515228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148613575	chr6:120515246-120515247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73521005	chr6:120515257-120515258	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs182691972	chr6:120515267-120515268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548982972	chr6:120515313-120515314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs545105203	chr6:120515347-120515348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs117967206	chr6:120515369-120515370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187830822	chr6:120515408-120515409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs193197809	chr6:120515411-120515412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs436125	chr6:120515413-120515414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537979133	chr6:120515436-120515437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530375316	chr6:120515444-120515445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549720382	chr6:120515458-120515459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs144267359	chr6:120515474-120515475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs370622458	chr6:120515569-120515570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs556226123	chr6:120515582-120515583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs34965841	chr6:120515767-120515768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs77993239	chr6:120515770-120515771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552658830	chr6:120515779-120515780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs261763	chr6:120515796-120515797	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs11962858	chr6:120515838-120515839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533960065	chr6:120515930-120515931	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	18698023	CNVD
Mental retardation	18854857	CNVD
Leukemia	18688285	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Liver carcinoma	19366792	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:120508800-120509200	ZNF genes & repeats	Pancreas	Pancrea
2	chr6:120514400-120517000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr6:120514800-120516200	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr6:120515000-120515600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:120515000-120516000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr6:120515000-120517000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr6:120515200-120517000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr6:120515400-120516200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr6:120515600-120516000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr6:120515600-120516000	Enhancers	H9 Cell Line	embryonic stem cell
11	chr6:120515600-120516200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr6:120516000-120517400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr6:120517400-120517600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr6:120518400-120520200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:120518600-120519400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr6:120518800-120519600	Enhancers	HMEC	breast
17	chr6:120518800-120522000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:120519000-120519800	Enhancers	NH-A	brain
19	chr6:120519200-120519800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr6:120519400-120519800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:120519400-120519800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr6:120519800-120520200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr6:120521400-120523000	Enhancers	Liver	Liver
24	chr6:120532800-120534000	Enhancers	Liver	Liver
25	chr6:120532800-120534200	Enhancers	HepG2	liver
26	chr6:120533000-120533600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr6:120533000-120533600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:120533000-120534200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:120533200-120533800	Enhancers	Muscle Satellite Cultured Cells	--
30	chr6:120533200-120533800	Enhancers	Stomach Mucosa	stomach
31	chr6:120533200-120534000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr6:120533200-120534000	Enhancers	Placenta Amnion	Placenta Amnion
33	chr6:120533400-120533800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr6:120533400-120533800	Enhancers	Hela-S3	cervix
35	chr6:120533400-120534000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr6:120533800-120535000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr6:120534000-120534400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr6:120534200-120535200	Weak transcription	HepG2	liver
39	chr6:120534400-120536400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr6:120535000-120535800	Enhancers	Muscle Satellite Cultured Cells	--
41	chr6:120535200-120536000	Enhancers	HepG2	liver
42	chr6:120543200-120549200	Weak transcription	HepG2	liver
43	chr6:120549200-120550000	Enhancers	HepG2	liver
44	chr6:120549400-120549600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr6:120549600-120550400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr6:120550000-120550400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr6:120550600-120551000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr6:120560600-120561200	Enhancers	Fetal Lung	lung
49	chr6:120575400-120576000	Enhancers	Fetal Lung	lung
50	chr6:120576000-120579400	Weak transcription	Fetal Lung	lung

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