Variant report

Variant	nsv969300
Chromosome Location	chr6:44493755-44494845
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:44362914..44365374-chr6:44494792..44497518,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDC5L-1	chr6:44494291-44494491	XLOC_005298
2	lnc-CDC5L-1	chr6:44493940-44494069	XLOC_005298

Extended variants
information (count: 42 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562641953	chr6:44493769-44493770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs150928316	chr6:44493779-44493780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs199776111	chr6:44493786-44493787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368876933	chr6:44493812-44493813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537257689	chr6:44493894-44493895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552972505	chr6:44493932-44493933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558320425	chr6:44493951-44493952	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs141115580	chr6:44494005-44494006	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs116722701	chr6:44494042-44494043	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs576892201	chr6:44494052-44494053	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs563424446	chr6:44494082-44494083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs79283366	chr6:44494104-44494105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs79879648	chr6:44494106-44494107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543134991	chr6:44494168-44494169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561401342	chr6:44494186-44494187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs146105238	chr6:44494215-44494216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs377209428	chr6:44494216-44494217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs150265051	chr6:44494285-44494286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532728962	chr6:44494315-44494316	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs186393268	chr6:44494351-44494352	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs9381336	chr6:44494370-44494371	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs41273650	chr6:44494459-44494460	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs9472294	chr6:44494470-44494471	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs569108272	chr6:44494513-44494514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552948435	chr6:44494518-44494519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191716018	chr6:44494536-44494537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567053364	chr6:44494537-44494538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs138903817	chr6:44494553-44494554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561577105	chr6:44494573-44494574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552891595	chr6:44494589-44494590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs367571550	chr6:44494598-44494599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs373085565	chr6:44494622-44494623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs149394880	chr6:44494638-44494639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557332817	chr6:44494674-44494675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs371403419	chr6:44494699-44494700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376283782	chr6:44494729-44494730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575494459	chr6:44494741-44494742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183434242	chr6:44494742-44494743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs75546517	chr6:44494787-44494788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573254714	chr6:44494805-44494806	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs114231434	chr6:44494818-44494819	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs138350684	chr6:44494838-44494839	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Osteosarcoma	16790693	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
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16790693	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Systemic lupus erythematosus	19287148	CNVD
Colorectal cancer	19359472	CNVD
Multiple myeloma	16616336	CNVD
Chordoma	18071362	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Ovarian cancer	20844748	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Gastrointestinal stromal cancer	20818650	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44492400-44496600	Enhancers	Fetal Thymus	thymus
2	chr6:44492400-44509800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr6:44493000-44494600	Weak transcription	Thymus	Thymus
4	chr6:44493200-44494400	Weak transcription	Dnd41	blood
5	chr6:44493200-44498000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:44493400-44494800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr6:44493600-44493800	Enhancers	H9 Cell Line	embryonic stem cell
8	chr6:44493600-44495600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:44494400-44495800	Enhancers	Dnd41	blood
10	chr6:44494400-44495800	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr6:44494600-44495200	Enhancers	Thymus	Thymus
12	chr6:44494600-44495600	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr6:44494600-44496000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr6:44494600-44496200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:44494600-44496200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr6:44494800-44495200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr6:44494800-44495400	Enhancers	Primary B cells from peripheral blood	blood
18	chr6:44494800-44495400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
19	chr6:44494800-44495600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr6:44494800-44496200	Enhancers	Primary hematopoietic stem cells	blood

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