Variant report

Variant	nsv463152
Chromosome Location	chr6:73369739-73406890
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:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:73404464..73406713-chr6:73409647..73411780,2	K562	blood:
2	chr6:73331043..73333929-chr6:73392586..73395955,3	K562	blood:
3	chr6:73399794..73402765-chr7:112924925..112927140,2	MCF-7	breast:
4	chr6:73331613..73333929-chr6:73394207..73395955,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RIMS1-1	chr6:73386819-73386938	ENSG00000233844.1
2	lnc-RIMS1-1	chr6:73388078-73388282	ENSG00000233844.1

No data

Variant related genes	Relation type
ENSG00000185760	chromatin interactions

Extended variants
information (count: 1224 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:1224 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12111265	chr6:73369739-73369740	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs77230182	chr6:73369748-73369749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549124017	chr6:73369778-73369779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534994100	chr6:73369798-73369799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142950312	chr6:73369843-73369844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571630000	chr6:73369867-73369868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538712148	chr6:73369903-73369904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377047148	chr6:73369950-73369951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557476991	chr6:73369977-73369978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576148739	chr6:73370004-73370005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369300345	chr6:73370010-73370011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536880905	chr6:73370079-73370080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555223027	chr6:73370081-73370082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573573496	chr6:73370099-73370100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567759152	chr6:73370150-73370151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540944690	chr6:73370167-73370168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559047449	chr6:73370192-73370193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561742787	chr6:73370196-73370197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148874823	chr6:73370203-73370204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577567903	chr6:73370228-73370229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79109378	chr6:73370250-73370251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77634988	chr6:73370261-73370262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531107934	chr6:73370278-73370279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543271628	chr6:73370301-73370302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561487794	chr6:73370309-73370310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186197239	chr6:73370312-73370313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547279894	chr6:73370313-73370314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9360584	chr6:73370429-73370430	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs369188051	chr6:73370466-73370467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112878152	chr6:73370492-73370493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550781501	chr6:73370534-73370535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189041591	chr6:73370601-73370602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181316068	chr6:73370622-73370623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186315077	chr6:73370648-73370649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567135029	chr6:73370700-73370701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534560230	chr6:73370703-73370704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553277988	chr6:73370824-73370825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532318673	chr6:73370839-73370840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538637086	chr6:73370882-73370883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76344777	chr6:73370901-73370902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139415369	chr6:73370917-73370918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556757206	chr6:73371057-73371058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557036701	chr6:73371091-73371092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10485213	chr6:73371110-73371111	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs145166341	chr6:73371113-73371114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536356328	chr6:73371118-73371119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12374631	chr6:73371164-73371165	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs75501174	chr6:73371186-73371187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12374630	chr6:73371194-73371195	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs572952284	chr6:73371269-73371270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Endometrioid adenocarcinoma	16974079	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
Prostate cancer	16573809	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Breast cancer	20409316	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73359600-73373000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr6:73359600-73398800	Weak transcription	Primary B cells from peripheral blood	blood
3	chr6:73359800-73386800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr6:73360400-73372600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr6:73362600-73371600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:73362600-73379200	Weak transcription	Psoas Muscle	Psoas
7	chr6:73362800-73371400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:73364400-73383200	Weak transcription	Primary B cells from cord blood	blood
9	chr6:73365000-73375200	Weak transcription	GM12878-XiMat	blood
10	chr6:73367800-73373000	Weak transcription	HMEC	breast
11	chr6:73367800-73376400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:73368000-73371600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr6:73368000-73371600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr6:73371400-73372000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:73371600-73371800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:73371600-73372400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:73371600-73372800	Enhancers	Muscle Satellite Cultured Cells	--
18	chr6:73371800-73372000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:73372000-73386800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:73375000-73376400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:73375200-73375400	ZNF genes & repeats	GM12878-XiMat	blood
22	chr6:73376400-73377200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:73376800-73377200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr6:73377000-73377200	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr6:73377200-73379000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr6:73377200-73379200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr6:73377200-73399000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr6:73378800-73381200	Enhancers	Primary T cells from cord blood	blood
29	chr6:73379000-73379600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr6:73379200-73379400	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr6:73379200-73379600	Enhancers	Psoas Muscle	Psoas
32	chr6:73379400-73379600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr6:73379400-73412600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr6:73380000-73381200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr6:73381200-73403600	Weak transcription	Primary T cells from cord blood	blood
36	chr6:73381400-73384600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr6:73382400-73382800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr6:73382400-73389800	Weak transcription	GM12878-XiMat	blood
39	chr6:73382800-73383400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr6:73382800-73385000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr6:73382800-73414200	Weak transcription	Primary hematopoietic stem cells	blood
42	chr6:73383200-73383600	Strong transcription	Primary B cells from cord blood	blood
43	chr6:73383400-73384200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr6:73383600-73412200	Weak transcription	Primary B cells from cord blood	blood
45	chr6:73384200-73384400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr6:73384400-73386800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr6:73384600-73384800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr6:73384800-73385400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr6:73384800-73385600	Enhancers	Osteobl	bone
50	chr6:73384800-73386000	Enhancers	Fetal Heart	heart

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