Variant report

Variant	nsv886117
Chromosome Location	chr6:68380125-68526511
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:33)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:68412434..68414327-chr6:68587582..68589254,2	K562	blood:
2	chr6:68443772..68446590-chr6:68448877..68451685,2	K562	blood:
3	chr6:68487893..68492102-chr6:68589175..68592601,3	K562	blood:
4	chr6:68403765..68404346-chr6:102923949..102924449,2	MCF-7	breast:
5	chr6:68496731..68499262-chr6:68502770..68504642,2	K562	blood:
6	chr6:68462396..68466041-chr6:68466528..68469791,3	K562	blood:
7	chr6:68500812..68503276-chr6:68505426..68509268,3	K562	blood:
8	chr6:68496731..68499262-chr6:68502770..68504642,2	K562	blood:
9	chr6:68524696..68527384-chr6:68621549..68624145,2	K562	blood:
10	chr6:68349476..68351287-chr6:68384246..68386682,2	K562	blood:
11	chr6:68474050..68477603-chr6:68477987..68481282,3	K562	blood:
12	chr6:68413174..68415186-chr6:68423979..68425964,2	K562	blood:
13	chr6:68526302..68528861-chr6:68589290..68590990,2	K562	blood:
14	chr6:68500812..68503514-chr6:68505426..68509054,4	K562	blood:
15	chr6:68384869..68387346-chr6:68589720..68591224,2	K562	blood:
16	chr6:68403017..68405900-chr6:68588028..68590720,2	K562	blood:
17	chr6:68413174..68415186-chr6:68423979..68425964,2	K562	blood:
18	chr6:68474050..68477603-chr6:68477987..68481282,3	K562	blood:
19	chr6:68468665..68470415-chr6:68479516..68482375,2	K562	blood:
20	chr6:68506908..68510214-chr6:68588930..68590665,3	K562	blood:
21	chr6:68468665..68470415-chr6:68479516..68482375,2	K562	blood:
22	chr6:68500812..68503276-chr6:68505426..68509268,3	K562	blood:
23	chr6:68483403..68485670-chr6:68597491..68600005,2	K562	blood:
24	chr6:68500812..68503514-chr6:68505426..68509054,4	K562	blood:
25	chr6:68462396..68466041-chr6:68466528..68469791,3	K562	blood:
26	chr6:68427555..68429805-chr6:68594951..68597288,2	K562	blood:
27	chr6:68502919..68505150-chr6:68587246..68590550,4	K562	blood:
28	chr13:82142712..82144212-chr6:68403629..68406116,2	K562	blood:
29	chr6:68487636..68489959-chr6:68585344..68587572,2	K562	blood:
30	chr6:68492831..68494635-chr6:68590295..68593150,2	K562	blood:
31	chr6:68501174..68502825-chr6:68530814..68533551,2	K562	blood:
32	chr6:68498733..68500691-chr6:68575961..68578214,2	K562	blood:
33	chr6:68443772..68446590-chr6:68448877..68451685,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000227706	chromatin interactions

Extended variants
information (count: 1551 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1551 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576727303	chr6:68385014-68385015	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545689191	chr6:68385017-68385018	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182384714	chr6:68385062-68385063	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186770492	chr6:68385090-68385091	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373474228	chr6:68385091-68385092	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142670042	chr6:68385096-68385097	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560965651	chr6:68385134-68385135	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529724633	chr6:68385135-68385136	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540050401	chr6:68385139-68385140	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147328390	chr6:68385169-68385170	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559746428	chr6:68385171-68385172	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538447149	chr6:68385173-68385174	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552405570	chr6:68385226-68385227	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs73461045	chr6:68385247-68385248	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs56036700	chr6:68385332-68385333	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs553860887	chr6:68385362-68385363	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs9342658	chr6:68385391-68385392	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs549419545	chr6:68385444-68385445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536710485	chr6:68385453-68385454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192785261	chr6:68385454-68385455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576663780	chr6:68385458-68385459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528761713	chr6:68385473-68385474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552140104	chr6:68385503-68385504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184717509	chr6:68385542-68385543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188385801	chr6:68385556-68385557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9360298	chr6:68385557-68385558	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs529661073	chr6:68385564-68385565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549417786	chr6:68385568-68385569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373022649	chr6:68385589-68385590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376055412	chr6:68385611-68385612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563050804	chr6:68385635-68385636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532119341	chr6:68385644-68385645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139312424	chr6:68385645-68385646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565897474	chr6:68385695-68385696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534600527	chr6:68385703-68385704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs193050976	chr6:68385741-68385742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567637279	chr6:68385749-68385750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79069168	chr6:68385807-68385808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9454225	chr6:68385855-68385856	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs9454226	chr6:68385860-68385861	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs562790875	chr6:68385861-68385862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74776200	chr6:68385933-68385934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12212806	chr6:68385935-68385936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370916603	chr6:68385939-68385940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs70983852	chr6:68385940-68385941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199586787	chr6:68385942-68385943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77647542	chr6:68385943-68385944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs398001879	chr6:68385959-68385960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs71808710	chr6:68385965-68385966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143234785	chr6:68385972-68385973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Breast cancer	21364760	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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:68385000-68385400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:68385000-68385400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:68385000-68385400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:68385400-68389400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:68385400-68389800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:68389400-68390200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr6:68389400-68390800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:68389400-68390800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr6:68389600-68390600	Enhancers	NH-A	brain
10	chr6:68389600-68390800	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr6:68389800-68390000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:68389800-68391000	Enhancers	HUVEC	blood vessel
13	chr6:68390000-68391000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:68390200-68390600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr6:68390600-68393400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr6:68390600-68393800	Weak transcription	NH-A	brain
17	chr6:68390800-68391200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:68391000-68393000	Weak transcription	HUVEC	blood vessel
19	chr6:68391000-68394000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:68391200-68391400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:68391400-68392400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:68392400-68392800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:68392800-68393800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr6:68393000-68394600	Enhancers	HUVEC	blood vessel
25	chr6:68393400-68394400	Enhancers	Muscle Satellite Cultured Cells	--
26	chr6:68393600-68394400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr6:68393600-68394600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:68393600-68394600	Enhancers	Osteobl	bone
29	chr6:68393800-68394600	Enhancers	NH-A	brain
30	chr6:68393800-68394800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:68394000-68394400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:68398800-68399400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr6:68399200-68399800	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr6:68399200-68399800	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr6:68399800-68400200	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr6:68400200-68401200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr6:68401600-68404000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr6:68426800-68427000	Active TSS	K562	blood
39	chr6:68426800-68427200	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr6:68427000-68427200	Flanking Active TSS	K562	blood
41	chr6:68427200-68427400	Enhancers	K562	blood
42	chr6:68430800-68431400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr6:68432200-68432600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr6:68432600-68433200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
45	chr6:68432600-68433200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr6:68432600-68433400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr6:68432800-68433200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr6:68432800-68433400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr6:68433000-68433400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr6:68433200-68434800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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