Variant report

Variant	nsv886585
Chromosome Location	chr6:120683728-120790347
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:120550876..120551654-chr6:120699476..120700307,2	MCF-7	breast:
2	chr6:120727203..120727781-chr6:121331449..121332021,2	MCF-7	breast:
3	chr6:120727187..120727711-chr6:121085206..121086111,2	MCF-7	breast:
4	chr6:120689936..120692907-chr6:120697509..120699077,2	K562	blood:
5	chr16:33618975..33619481-chr6:120699536..120700074,2	MCF-7	breast:
6	chr6:120699511..120700307-chr6:121085174..121086152,2	MCF-7	breast:
7	chr6:120699482..120700334-chr6:121626863..121627717,3	MCF-7	breast:
8	chr6:120727129..120727677-chr6:121147123..121147638,2	MCF-7	breast:
9	chr6:120300752..120301282-chr6:120699843..120700377,2	MCF-7	breast:
10	chr6:120699475..120700058-chr6:121147497..121148100,2	MCF-7	breast:
11	chr6:120707024..120708660-chr6:120718622..120720197,2	MCF-7	breast:
12	chr6:120063490..120064041-chr6:120699487..120700386,2	MCF-7	breast:
13	chr6:120707024..120708660-chr6:120718622..120720197,2	MCF-7	breast:
14	chr6:120689936..120692907-chr6:120697509..120699077,2	K562	blood:
15	chr6:120398336..120399006-chr6:120699718..120700358,2	MCF-7	breast:

No data

Extended variants
information (count: 470 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:470 , 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	rs576472468	chr6:120684214-120684215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs186518462	chr6:120684233-120684234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143210693	chr6:120684257-120684258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533255822	chr6:120684270-120684271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540178125	chr6:120684274-120684275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560027972	chr6:120684286-120684287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528815326	chr6:120684292-120684293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548591946	chr6:120684353-120684354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555795503	chr6:120684431-120684432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531341952	chr6:120684451-120684452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551930522	chr6:120684503-120684504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571787543	chr6:120684504-120684505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146695023	chr6:120684552-120684553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548062883	chr6:120684561-120684562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567981435	chr6:120684608-120684609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs35697627	chr6:120684619-120684620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs190096294	chr6:120684620-120684621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144361939	chr6:120684627-120684628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541520637	chr6:120684643-120684644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556155796	chr6:120684663-120684664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs146612887	chr6:120684670-120684671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577726802	chr6:120684676-120684677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540043310	chr6:120684683-120684684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554530176	chr6:120684707-120684708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559987987	chr6:120684747-120684748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573613950	chr6:120684762-120684763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542202054	chr6:120684770-120684771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112507907	chr6:120684771-120684772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs141057525	chr6:120684824-120684825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559304279	chr6:120684851-120684852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577464799	chr6:120684854-120684855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551147387	chr6:120684910-120684911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs150266300	chr6:120684938-120684939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577623527	chr6:120684940-120684941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs527858840	chr6:120684941-120684942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548024238	chr6:120684955-120684956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113467626	chr6:120684961-120684962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs530191896	chr6:120684976-120684977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181481247	chr6:120684980-120684981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550144052	chr6:120684981-120684982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569995177	chr6:120685005-120685006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs539034489	chr6:120685015-120685016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs112530557	chr6:120685026-120685027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs138972327	chr6:120685051-120685052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572526578	chr6:120685053-120685054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs185730163	chr6:120685111-120685112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553585217	chr6:120685150-120685151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553843588	chr6:120685186-120685187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190974617	chr6:120685191-120685192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs372475254	chr6:120685198-120685199	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

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	15273396	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:120684200-120685000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:120684200-120685000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:120684400-120685000	Enhancers	H1 Cell Line	embryonic stem cell
4	chr6:120684400-120685000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:120684400-120685000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr6:120684600-120685000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr6:120684600-120685200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr6:120684800-120685200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr6:120684800-120685200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr6:120697000-120697400	Enhancers	H9 Cell Line	embryonic stem cell
11	chr6:120700800-120701200	Enhancers	Fetal Heart	heart
12	chr6:120705800-120706600	Enhancers	NHEK	skin
13	chr6:120712800-120714200	Enhancers	Fetal Lung	lung
14	chr6:120752600-120753000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:120753000-120753400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:120753400-120754000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr6:120754000-120754200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr6:120768400-120769000	Enhancers	Fetal Muscle Leg	muscle
19	chr6:120786400-120786600	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr6:120787200-120787800	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr6:120787200-120788400	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr6:120787400-120787800	Active TSS	H9 Cell Line	embryonic stem cell
23	chr6:120787600-120788600	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr6:120787800-120789200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr6:120788400-120789200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr6:120788600-120789200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr6:120789200-120789400	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr6:120789200-120789800	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr6:120789200-120790000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr6:120789200-120790200	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr6:120789400-120789600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr6:120789400-120790200	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr6:120789800-120790400	Enhancers	HUES6 Cell Line	embryonic stem cell

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