Variant report

Variant	nsv1026947
Chromosome Location	chr6:68902789-68934648
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:68596822..68599467-chr6:68902584..68904258,2	K562	blood:
2	chr6:68932965..68935508-chr6:68943074..68945551,2	K562	blood:
3	chr6:68643288..68643871-chr6:68906272..68906796,2	MCF-7	breast:
4	chr6:68597967..68600820-chr6:68902584..68905029,2	K562	blood:
5	chr6:68928154..68930694-chr6:68933230..68935835,2	K562	blood:
6	chr6:68928154..68930694-chr6:68933230..68935835,2	K562	blood:
7	chr6:68595627..68600174-chr6:68934474..68938541,5	K562	blood:
8	chr6:68933094..68935275-chr6:68937199..68939235,2	K562	blood:
9	chr6:68597295..68599667-chr6:68906772..68909494,2	K562	blood:
10	chr6:68587425..68594562-chr6:68930728..68938009,10	K562	blood:
11	chr6:68855835..68858307-chr6:68920639..68923562,2	K562	blood:
12	chr6:68898980..68902272-chr6:68905244..68907191,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000227706	chromatin interactions
ENSG00000270509	chromatin interactions

Extended variants
information (count: 901 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:901 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573531120	chr6:68902806-68902807	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs536065185	chr6:68902830-68902831	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs149859536	chr6:68902925-68902926	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs542551449	chr6:68902932-68902933	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs550304277	chr6:68902965-68902966	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs372545388	chr6:68903012-68903013	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs181298613	chr6:68903041-68903042	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs35734446	chr6:68903062-68903063	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs544929763	chr6:68903075-68903076	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs564552101	chr6:68903084-68903085	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs577950004	chr6:68903093-68903094	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs701670	chr6:68903114-68903115	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs144879158	chr6:68903147-68903148	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs529370922	chr6:68903187-68903188	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs549607069	chr6:68903210-68903211	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs185569892	chr6:68903212-68903213	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs562891116	chr6:68903213-68903214	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs375931275	chr6:68903226-68903227	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs189981401	chr6:68903233-68903234	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs551775066	chr6:68903234-68903235	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs149037674	chr6:68903242-68903243	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs533535415	chr6:68903258-68903259	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs540447516	chr6:68903270-68903271	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs560621029	chr6:68903292-68903293	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs546964045	chr6:68903299-68903300	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs143229705	chr6:68903301-68903302	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs532968112	chr6:68903335-68903336	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs535905627	chr6:68903339-68903340	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs555944381	chr6:68903370-68903371	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs146696877	chr6:68903390-68903391	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs58101919	chr6:68903462-68903463	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs538964960	chr6:68903505-68903506	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs558549676	chr6:68903572-68903573	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs372625872	chr6:68903617-68903618	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs572275732	chr6:68903621-68903622	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs371006788	chr6:68903622-68903623	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs560480139	chr6:68903623-68903624	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs574182494	chr6:68903624-68903625	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs543139266	chr6:68903627-68903628	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs70983892	chr6:68903642-68903643	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs552569378	chr6:68903678-68903679	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs114755939	chr6:68903745-68903746	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs78264648	chr6:68903790-68903791	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs13203884	chr6:68903807-68903808	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs13200632	chr6:68903816-68903817	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs13203889	chr6:68903818-68903819	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs13200635	chr6:68903825-68903826	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs701672	chr6:68903826-68903827	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs13203730	chr6:68903839-68903840	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs13207072	chr6:68903867-68903868	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	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
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	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
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:68904600-68904800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:68904600-68905000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:68904800-68905400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:68904800-68905400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:68905000-68905200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:68905200-68905400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:68905400-68919200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:68907000-68907800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:68921000-68922000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:68929000-68931400	Weak transcription	Aorta	Aorta
11	chr6:68932600-68933000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:68932800-68933000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:68932800-68933000	Enhancers	K562	blood
14	chr6:68933000-68935200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:68933000-68935200	Weak transcription	K562	blood
16	chr6:68933000-68936000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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