Variant report

Variant	nsv464033
Chromosome Location	chr6:120367185-120636298
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:120550876..120551654-chr6:120699476..120700307,2	MCF-7	breast:
2	chr6:120385474..120388281-chr6:120392055..120395872,3	K562	blood:
3	chr6:120485680..120488246-chr6:120488292..120490260,2	K562	blood:
4	chr3:164212016..164212593-chr6:120624651..120625343,2	MCF-7	breast:
5	chr6:120532090..120534309-chr6:120536894..120539372,2	MCF-7	breast:
6	chr6:120532090..120534309-chr6:120536894..120539372,2	MCF-7	breast:
7	chr6:120063102..120064201-chr6:120398484..120399225,3	MCF-7	breast:
8	chr6:120499441..120501978-chr6:120507882..120510066,2	MCF-7	breast:
9	chr6:120499441..120501978-chr6:120507882..120510066,2	MCF-7	breast:
10	chr6:120385733..120388673-chr6:120392055..120394693,3	K562	blood:
11	chr17:57913954..57915888-chr6:120581005..120582642,2	MCF-7	breast:
12	chr6:120445434..120448192-chr6:120451139..120452910,2	MCF-7	breast:
13	chr6:120385474..120388281-chr6:120392055..120395872,3	K562	blood:
14	chr6:120429118..120430832-chr6:120432862..120435382,2	K562	blood:
15	chr6:120445434..120448192-chr6:120451139..120452910,2	MCF-7	breast:
16	chr6:120485680..120488246-chr6:120488292..120490260,2	K562	blood:
17	chr6:120300992..120301525-chr6:120398530..120399259,2	MCF-7	breast:
18	chr6:120063304..120064010-chr6:120397825..120398847,3	MCF-7	breast:
19	chr6:120385733..120388673-chr6:120392055..120394693,3	K562	blood:
20	chr6:120429118..120430832-chr6:120432862..120435382,2	K562	blood:
21	chr6:120398336..120399006-chr6:120699718..120700358,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000062716	chromatin interactions

Extended variants
information (count: 2495 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:2495 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73535036	chr6:120376200-120376201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs150735528	chr6:120376217-120376218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548104359	chr6:120376219-120376220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561981396	chr6:120376227-120376228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552947351	chr6:120376228-120376229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530725561	chr6:120376231-120376232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183932865	chr6:120376288-120376289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574877770	chr6:120376313-120376314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs761447	chr6:120376317-120376318	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs761446	chr6:120376390-120376391	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs546273875	chr6:120376514-120376515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs761445	chr6:120376555-120376556	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs536020221	chr6:120376586-120376587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139082787	chr6:120376601-120376602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528521787	chr6:120376617-120376618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575847197	chr6:120376668-120376669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545473632	chr6:120376692-120376693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565205582	chr6:120376779-120376780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538535141	chr6:120376791-120376792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558528317	chr6:120376829-120376830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs578059089	chr6:120376835-120376836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532442593	chr6:120376836-120376837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144058080	chr6:120376845-120376846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188221824	chr6:120376880-120376881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541969954	chr6:120376944-120376945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369786781	chr6:120377011-120377012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146605805	chr6:120377015-120377016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs7746405	chr6:120377045-120377046	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs191866543	chr6:120377054-120377055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564074045	chr6:120377103-120377104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs761444	chr6:120377151-120377152	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs374527164	chr6:120377181-120377182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs184256992	chr6:120377198-120377199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs566528720	chr6:120377205-120377206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375870267	chr6:120377232-120377233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149950382	chr6:120377252-120377253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528981691	chr6:120377253-120377254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549106951	chr6:120377255-120377256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6569101	chr6:120377256-120377257	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs182012594	chr6:120377260-120377261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6569102	chr6:120377278-120377279	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs7746616	chr6:120377342-120377343	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs78530008	chr6:120377345-120377346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184986130	chr6:120377352-120377353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537280315	chr6:120377370-120377371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565668819	chr6:120377388-120377389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150928180	chr6:120404619-120404620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs11965312	chr6:120404663-120404664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs377297678	chr6:120404668-120404669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs78263034	chr6:120404686-120404687	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:117)

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
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:120376200-120377000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:120377000-120377200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:120377200-120377400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:120404600-120405000	Enhancers	Primary B cells from cord blood	blood
5	chr6:120417800-120418200	Enhancers	Fetal Heart	heart
6	chr6:120437600-120437800	Enhancers	Primary B cells from cord blood	blood
7	chr6:120437600-120438200	Enhancers	Primary B cells from peripheral blood	blood
8	chr6:120437600-120438200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr6:120439200-120439600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr6:120445200-120445600	Enhancers	Primary B cells from peripheral blood	blood
11	chr6:120445600-120448600	Weak transcription	Primary B cells from peripheral blood	blood
12	chr6:120448600-120449400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
13	chr6:120449400-120449600	Weak transcription	Primary B cells from peripheral blood	blood
14	chr6:120449600-120450200	Enhancers	Primary B cells from cord blood	blood
15	chr6:120449600-120450400	Enhancers	Primary B cells from peripheral blood	blood
16	chr6:120450200-120450400	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr6:120450400-120451200	Enhancers	Primary B cells from cord blood	blood
18	chr6:120450400-120451400	Weak transcription	Primary B cells from peripheral blood	blood
19	chr6:120451400-120452200	Enhancers	Primary B cells from peripheral blood	blood
20	chr6:120468200-120468600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr6:120468400-120468800	Enhancers	Placenta	Placenta
22	chr6:120468600-120468800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:120470200-120471200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:120471200-120475200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:120475200-120475600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:120475600-120476000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:120487200-120488000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr6:120488000-120488600	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr6:120490400-120491000	Enhancers	HepG2	liver
30	chr6:120490800-120491000	Enhancers	Stomach Mucosa	stomach
31	chr6:120492800-120493400	Enhancers	Stomach Mucosa	stomach
32	chr6:120494600-120494800	ZNF genes & repeats	Pancreas	Pancrea
33	chr6:120494600-120495000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:120500800-120501400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:120508600-120508800	Enhancers	Pancreas	Pancrea
36	chr6:120508800-120509200	ZNF genes & repeats	Pancreas	Pancrea
37	chr6:120514400-120517000	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr6:120514800-120516200	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr6:120515000-120515600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr6:120515000-120516000	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr6:120515000-120517000	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr6:120515200-120517000	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr6:120515400-120516200	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr6:120515600-120516000	Enhancers	H1 Cell Line	embryonic stem cell
45	chr6:120515600-120516000	Enhancers	H9 Cell Line	embryonic stem cell
46	chr6:120515600-120516200	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr6:120516000-120517400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr6:120517400-120517600	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr6:120518400-120520200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr6:120518600-120519400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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