Variant report

Variant	nsv970347
Chromosome Location	chr6:119841473-119846393
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:27115305..27118047-chr6:119845480..119847111,2	K562	blood:
2	chr6:119841673..119843483-chr6:119844681..119847300,2	K562	blood:
3	chr6:119843554..119849464-chr6:119857020..119861311,6	K562	blood:
4	chr6:119843554..119845445-chr6:119857020..119859893,3	K562	blood:
5	chr6:119841673..119843483-chr6:119844681..119847300,2	K562	blood:
6	chr6:119845567..119847113-chr6:119965948..119967870,2	K562	blood:

Variant related genes	Relation type
ENSG00000265565	chromatin interactions

Extended variants
information (count: 159 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:159 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369011927	chr6:119841509-119841510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs59315027	chr6:119841522-119841523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549066318	chr6:119841608-119841609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191980749	chr6:119841635-119841636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182969912	chr6:119841711-119841712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560070182	chr6:119841725-119841726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12195597	chr6:119841737-119841738	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs539033355	chr6:119841776-119841777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571444130	chr6:119841785-119841786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188050548	chr6:119841786-119841787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs9481935	chr6:119841878-119841879	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs553799976	chr6:119841933-119841934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192507755	chr6:119841970-119841971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs13204414	chr6:119841977-119841978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs77188244	chr6:119841993-119841994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371589499	chr6:119842033-119842034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576174488	chr6:119842045-119842046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544992245	chr6:119842059-119842060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558870121	chr6:119842071-119842072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183781150	chr6:119842076-119842077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541683892	chr6:119842099-119842100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187710305	chr6:119842111-119842112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192750296	chr6:119842116-119842117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs17081365	chr6:119842310-119842311	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs562569182	chr6:119842338-119842339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572533296	chr6:119842393-119842394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147207379	chr6:119842398-119842399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533765063	chr6:119842466-119842467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6569083	chr6:119842478-119842479	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs571191342	chr6:119842503-119842504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114783160	chr6:119842505-119842506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573734657	chr6:119842523-119842524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567248867	chr6:119842532-119842533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536034845	chr6:119842540-119842541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7740612	chr6:119842563-119842564	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs569522964	chr6:119842595-119842596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538700727	chr6:119842614-119842615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148693829	chr6:119842627-119842628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558805139	chr6:119842680-119842681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114197566	chr6:119842798-119842799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534743999	chr6:119842835-119842836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs17081375	chr6:119842871-119842872	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs141384487	chr6:119842881-119842882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544024392	chr6:119842909-119842910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs563834671	chr6:119842910-119842911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs73533179	chr6:119842956-119842957	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs75231051	chr6:119843047-119843048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs114660993	chr6:119843073-119843074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs527255867	chr6:119843074-119843075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs189508642	chr6:119843169-119843170	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:20 , 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	chr6:119834200-119842400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:119839200-119844600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr6:119839400-119848800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:119839600-119844200	Weak transcription	Dnd41	blood
6	chr6:119840200-119841800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr6:119841600-119841800	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr6:119841800-119842000	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr6:119842000-119842800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr6:119842400-119842600	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr6:119842400-119842800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:119842600-119843000	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr6:119842800-119843200	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr6:119842800-119847400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:119843200-119844600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr6:119844200-119845800	Enhancers	Dnd41	blood
17	chr6:119844600-119845600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr6:119844600-119845800	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr6:119844800-119845400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:119845800-119847800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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