Variant report

Variant	nsv970666
Chromosome Location	chr6:119845542-119848761
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	chr6:119847994..119850529-chr6:119852799..119855892,3	K562	blood:
2	chr6:119841673..119843483-chr6:119844681..119847300,2	K562	blood:
3	chr6:27115305..27118047-chr6:119845480..119847111,2	K562	blood:
4	chr6:119834976..119836723-chr6:119847440..119850148,2	K562	blood:
5	chr6:119845567..119847113-chr6:119965948..119967870,2	K562	blood:
6	chr6:119846705..119849464-chr6:119858071..119861061,2	K562	blood:
7	chr6:119843554..119849464-chr6:119857020..119861311,6	K562	blood:
8	chr6:119847994..119850425-chr6:119853510..119855892,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000265565	chromatin interactions

Extended variants
information (count: 109 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552986836	chr6:119845663-119845664	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs571758911	chr6:119845691-119845692	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs373863669	chr6:119845701-119845702	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs542152696	chr6:119845702-119845703	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs561817045	chr6:119845710-119845711	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs9481936	chr6:119845746-119845747	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs6913097	chr6:119845822-119845823	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs192786769	chr6:119845862-119845863	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs533152715	chr6:119845901-119845902	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs547019836	chr6:119845913-119845914	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs73533196	chr6:119845994-119845995	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs529505343	chr6:119846017-119846018	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs4946425	chr6:119846075-119846076	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs9374801	chr6:119846181-119846182	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs373160519	chr6:119846203-119846204	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs6936781	chr6:119846220-119846221	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs530990195	chr6:119846226-119846227	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs149004257	chr6:119846261-119846262	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs539051360	chr6:119846356-119846357	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs552891624	chr6:119846408-119846409	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs572878754	chr6:119846418-119846419	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs17081381	chr6:119846446-119846447	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs116866671	chr6:119846451-119846452	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs143834739	chr6:119846501-119846502	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs80302390	chr6:119846503-119846504	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs542990442	chr6:119846509-119846510	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs376328167	chr6:119846540-119846541	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs182541301	chr6:119846582-119846583	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs578082781	chr6:119846667-119846668	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs540372770	chr6:119846710-119846711	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs560072920	chr6:119846712-119846713	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs529263471	chr6:119846713-119846714	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs17081384	chr6:119846715-119846716	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs139336935	chr6:119846810-119846811	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs531782314	chr6:119846829-119846830	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs548090889	chr6:119846830-119846831	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs552000129	chr6:119846871-119846872	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs7776415	chr6:119846960-119846961	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs533005773	chr6:119846962-119846963	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs546395234	chr6:119846963-119846964	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs188455350	chr6:119847044-119847045	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs191500017	chr6:119847126-119847127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs140945086	chr6:119847131-119847132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs200539943	chr6:119847193-119847194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs73533201	chr6:119847278-119847279	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs548663563	chr6:119847280-119847281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs115568913	chr6:119847299-119847300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs557886667	chr6:119847301-119847302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs577768986	chr6:119847333-119847334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs540686775	chr6:119847346-119847347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119825800-119850200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr6:119839400-119848800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:119842800-119847400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:119844200-119845800	Enhancers	Dnd41	blood
5	chr6:119844600-119845600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr6:119844600-119845800	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr6:119845800-119847800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr6:119847000-119849000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:119847400-119849200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:119847400-119849200	Enhancers	Rectal Smooth Muscle	rectum
11	chr6:119847800-119848200	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr6:119847800-119849600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr6:119847800-119849800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr6:119848000-119848600	Enhancers	Fetal Heart	heart
15	chr6:119848000-119849200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr6:119848000-119849400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr6:119848000-119849600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr6:119848000-119849600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr6:119848200-119848600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr6:119848200-119848600	Enhancers	Colon Smooth Muscle	Colon
21	chr6:119848200-119848600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr6:119848200-119848800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr6:119848200-119849200	Enhancers	K562	blood
24	chr6:119848400-119849200	Enhancers	H9 Cell Line	embryonic stem cell
25	chr6:119848600-119849000	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr6:119848600-119851800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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