Variant report

Variant	nsv1027029
Chromosome Location	chr6:75364848-75417967
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:1)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:75404438..75406567-chr6:75465069..75466643,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CD109-3	chr6:75400053-75400443	ENSG00000223786.1
2	lnc-CD109-3	chr6:75383780-75383864	ENSG00000223786.1
3	lnc-CD109-3	chr6:75400053-75400425	NONHSAT147422
4	lnc-CD109-7	chr6:75408820-75408985	NONHSAT113593
5	lnc-CD109-3	chr6:75383782-75383864	NONHSAT147422

No data

Extended variants
information (count: 498 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:498 , 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	rs2252284	chr6:75364848-75364849	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536619593	chr6:75364914-75364915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527836542	chr6:75364982-75364983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79434631	chr6:75364993-75364994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573288245	chr6:75365046-75365047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540709526	chr6:75365063-75365064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558931061	chr6:75365075-75365076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2252276	chr6:75365102-75365103	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs531912821	chr6:75365115-75365116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143209431	chr6:75365127-75365128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs2252270	chr6:75365189-75365190	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs113043257	chr6:75365201-75365202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs34197031	chr6:75365231-75365232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530310203	chr6:75365237-75365238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2252269	chr6:75365238-75365239	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs560085364	chr6:75365251-75365252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187341518	chr6:75365302-75365303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112530399	chr6:75365313-75365314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2502477	chr6:75365320-75365321	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs116211326	chr6:75365360-75365361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531498704	chr6:75365399-75365400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550121880	chr6:75365454-75365455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568391096	chr6:75365490-75365491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs35910855	chr6:75365526-75365527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs146755817	chr6:75365548-75365549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554704155	chr6:75365556-75365557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73757914	chr6:75365575-75365576	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs565327258	chr6:75365577-75365578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190518950	chr6:75365648-75365649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539178975	chr6:75365688-75365689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577046400	chr6:75365730-75365731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73459889	chr6:75365736-75365737	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs140436166	chr6:75365826-75365827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2502476	chr6:75365883-75365884	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs542506662	chr6:75365930-75365931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs76176530	chr6:75365987-75365988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs527243336	chr6:75366050-75366051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs9352142	chr6:75366059-75366060	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs564178728	chr6:75366082-75366083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs200034345	chr6:75366083-75366084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531412787	chr6:75366098-75366099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs375185867	chr6:75366099-75366100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs2502475	chr6:75366102-75366103	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs568249388	chr6:75366109-75366110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs35064497	chr6:75366162-75366163	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs547621702	chr6:75366258-75366259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144982335	chr6:75366265-75366266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs534170867	chr6:75366266-75366267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558660322	chr6:75366297-75366298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs2502474	chr6:75366301-75366302	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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
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
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
Developmental delay	21147756	CNVD
Chronic lymphocytic leukemia	21546498	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelodysplastic syndrome	18508791	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:75360200-75367800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr6:75362400-75367000	Weak transcription	NHDF-Ad	bronchial
3	chr6:75362600-75367000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:75363000-75366000	Weak transcription	Osteobl	bone
5	chr6:75363000-75367600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:75363800-75365000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:75363800-75369200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:75364200-75366400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr6:75364600-75366400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:75364600-75366400	Weak transcription	Hela-S3	cervix
11	chr6:75364800-75365000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr6:75364800-75366800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:75365000-75366800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:75365400-75366600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr6:75366000-75368600	Enhancers	Osteobl	bone
16	chr6:75366200-75368000	Enhancers	HSMM	muscle
17	chr6:75366400-75367200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:75366400-75367800	Enhancers	Hela-S3	cervix
19	chr6:75366400-75368400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr6:75366600-75367600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr6:75366800-75367200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:75366800-75367400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:75367000-75367600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:75367000-75368000	Enhancers	HSMMtube	muscle
25	chr6:75367000-75368000	Enhancers	NHDF-Ad	bronchial
26	chr6:75367600-75368400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr6:75368000-75371000	Weak transcription	NHDF-Ad	bronchial
28	chr6:75380200-75380800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:75380200-75381800	Enhancers	Osteobl	bone
30	chr6:75380400-75381000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr6:75380400-75381200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:75380400-75381400	Enhancers	NHDF-Ad	bronchial
33	chr6:75380800-75381200	Enhancers	NHLF	lung
34	chr6:75380800-75381400	Enhancers	HSMM	muscle
35	chr6:75380800-75382200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr6:75380800-75382200	Enhancers	Aorta	Aorta
37	chr6:75380800-75382200	Enhancers	Fetal Lung	lung
38	chr6:75380800-75382200	Enhancers	Ovary	ovary
39	chr6:75380800-75382400	Enhancers	Muscle Satellite Cultured Cells	--
40	chr6:75380800-75382800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:75381000-75381200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr6:75381000-75381200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr6:75381200-75381600	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr6:75381200-75381600	Enhancers	Esophagus	oesophagus
45	chr6:75381200-75381600	Flanking Active TSS	NHLF	lung
46	chr6:75381200-75381800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr6:75381200-75381800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:75381200-75381800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr6:75381200-75382200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr6:75381200-75382200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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