Variant report

Variant	nsv906821
Chromosome Location	chr16:69509506-69576894
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:83)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:83 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:154934019..154934711-chr16:69563218..69563999,2	HCT-116	colon:
2	chr16:69511278..69513014-chr16:69516407..69519274,2	MCF-7	breast:
3	chr16:69541836..69544801-chr16:69546329..69548465,2	K562	blood:
4	chr16:69511278..69513014-chr16:69516407..69519274,2	MCF-7	breast:
5	chr16:69563236..69563998-chr2:242626169..242626798,2	HCT-116	colon:
6	chr16:69373371..69375558-chr16:69536555..69539397,2	K562	blood:
7	chr16:69524110..69526061-chr16:69563586..69566437,2	K562	blood:
8	chr16:69569480..69571218-chr16:69573511..69575698,2	K562	blood:
9	chr16:69559754..69561359-chr16:69598364..69600533,2	MCF-7	breast:
10	chr16:69530252..69532421-chr16:69534935..69537410,2	K562	blood:
11	chr16:69517812..69520057-chr16:69536092..69537909,2	K562	blood:
12	chr16:69566255..69568646-chr16:69598529..69601107,2	K562	blood:
13	chr16:69562466..69565005-chr16:69568063..69569909,2	MCF-7	breast:
14	chr16:69564049..69566185-chr16:69596173..69597747,2	K562	blood:
15	chr10:76870930..76871660-chr16:69563615..69564146,2	Hela-S3	cervix:
16	chr16:69541589..69544801-chr16:69546329..69549438,3	K562	blood:
17	chr16:69539962..69542930-chr16:69673430..69675351,2	K562	blood:
18	chr16:69362513..69364204-chr16:69563809..69565438,2	K562	blood:
19	chr16:69566548..69569139-chr16:69573480..69575155,2	K562	blood:
20	chr16:69497358..69498951-chr16:69511996..69513607,2	K562	blood:
21	chr16:69574674..69576920-chr16:69578465..69580569,2	MCF-7	breast:
22	chr16:69555075..69556617-chr16:69599347..69601386,2	K562	blood:
23	chr16:69563695..69566237-chr16:69598351..69600283,2	K562	blood:
24	chr16:69509990..69511993-chr16:69515156..69517203,2	MCF-7	breast:
25	chr16:69561256..69567897-chr16:69597498..69602280,7	MCF-7	breast:
26	chr16:69516510..69518321-chr16:69524382..69526956,2	K562	blood:
27	chr16:69553013..69554561-chr16:69556746..69558341,2	MCF-7	breast:
28	chr16:69545872..69548834-chr16:69551535..69554379,3	MCF-7	breast:
29	chr16:69554984..69557570-chr16:69599463..69601057,2	MCF-7	breast:
30	chr16:69508953..69510739-chr16:69516182..69518376,2	K562	blood:
31	chr16:69563142..69566271-chr16:69570461..69572776,3	MCF-7	breast:
32	chr16:69510258..69512322-chr16:69518403..69520753,2	K562	blood:
33	chr16:69512404..69515613-chr16:69516631..69519263,3	K562	blood:
34	chr16:69516510..69518321-chr16:69524382..69526956,2	K562	blood:
35	chr16:69566413..69569276-chr16:69569579..69572523,2	K562	blood:
36	chr16:69566413..69569276-chr16:69569579..69572523,2	K562	blood:
37	chr16:69545898..69548412-chr16:69564627..69566221,2	MCF-7	breast:
38	chr16:69569480..69571218-chr16:69573511..69575698,2	K562	blood:
39	chr16:69562466..69565005-chr16:69568063..69569909,2	MCF-7	breast:
40	chr16:69563250..69565350-chr16:69571620..69573342,2	K562	blood:
41	chr16:69563142..69566271-chr16:69570461..69572776,3	MCF-7	breast:
42	chr16:69458458..69460462-chr16:69566272..69568616,2	MCF-7	breast:
43	chr16:69441221..69442807-chr16:69563296..69565834,2	K562	blood:
44	chr16:69440915..69442721-chr16:69563296..69565171,2	K562	blood:
45	chr16:69508953..69512400-chr16:69516182..69519575,4	K562	blood:
46	chr16:69530252..69532421-chr16:69534935..69537410,2	K562	blood:
47	chr16:69457692..69459849-chr16:69569750..69571657,2	MCF-7	breast:
48	chr16:69524110..69526061-chr16:69563586..69566437,2	K562	blood:
49	chr16:69536086..69537926-chr16:69539451..69541339,2	MCF-7	breast:
50	chr16:69519290..69522185-chr16:69598242..69600037,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CYB5B-2	chr16:69519914-69520463	NONHSAT143360

No data

Variant related genes	Relation type
ENSG00000102908	chromatin interactions
ENSG00000271380	chromatin interactions
ENSG00000103018	chromatin interactions
ENSG00000132603	chromatin interactions
ENSG00000223496	chromatin interactions
ENSG00000223109	chromatin interactions
ENSG00000168393	chromatin interactions
ENSG00000163348	chromatin interactions
ENSG00000124357	chromatin interactions
ENSG00000132604	chromatin interactions
ENSG00000213380	chromatin interactions
ENSG00000260108	chromatin interactions
ENSG00000156671	chromatin interactions

Extended variants
information (count: 2739 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:2739 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11641710	chr16:69509506-69509507	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs75967999	chr16:69509520-69509521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs72797190	chr16:69509553-69509554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372237198	chr16:69509554-69509555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539579175	chr16:69509609-69509610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs35760028	chr16:69509614-69509615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34404344	chr16:69509615-69509616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs71268477	chr16:69509634-69509635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192957497	chr16:69509660-69509661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562541010	chr16:69509661-69509662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184824873	chr16:69509682-69509683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541875998	chr16:69509707-69509708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189643699	chr16:69509757-69509758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563222104	chr16:69509763-69509764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs367879458	chr16:69509766-69509767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541815449	chr16:69509767-69509768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs377014630	chr16:69509771-69509772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560215917	chr16:69509779-69509780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528194002	chr16:69509790-69509791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572159323	chr16:69509800-69509801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148371886	chr16:69509801-69509802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564668805	chr16:69509813-69509814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551964338	chr16:69509814-69509815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550359875	chr16:69509824-69509825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs8057099	chr16:69509825-69509826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs11865255	chr16:69509826-69509827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534558068	chr16:69509828-69509829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185094020	chr16:69509830-69509831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547764029	chr16:69509837-69509838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs11075724	chr16:69509844-69509845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536231668	chr16:69509866-69509867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs189176120	chr16:69509870-69509871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570142108	chr16:69509875-69509876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs62052772	chr16:69509895-69509896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs376581380	chr16:69509902-69509903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs8057286	chr16:69509903-69509904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568240556	chr16:69509905-69509906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113592981	chr16:69509913-69509914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553797051	chr16:69509914-69509915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572120611	chr16:69509915-69509916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545819535	chr16:69509916-69509917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs35370839	chr16:69509965-69509966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs75682331	chr16:69510014-69510015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146083954	chr16:69510045-69510046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs557575435	chr16:69510046-69510047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs373491957	chr16:69510054-69510055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs577750580	chr16:69510060-69510061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs562335931	chr16:69510070-69510071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs529534743	chr16:69510140-69510141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs187422248	chr16:69510141-69510142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21611746	CNVD
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Breast cancer	22522925	CNVD
Neuroblastoma	21899760	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD
Glioma	20126413	CNVD
Schizophrenia	23813976	CNVD
Bladder cancer	21909424	CNVD
Autism	21865298	CNVD

Chromatin state (count:1146 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69479600-69517600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:69489800-69510800	Weak transcription	Right Atrium	heart
3	chr16:69494200-69510800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr16:69497200-69510800	Weak transcription	Gastric	stomach
5	chr16:69497800-69510800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:69498000-69510600	Weak transcription	HSMMtube	muscle
7	chr16:69498800-69510400	Weak transcription	HSMM	muscle
8	chr16:69499200-69509600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr16:69499200-69515600	Weak transcription	Left Ventricle	heart
10	chr16:69499400-69510200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr16:69499400-69510200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr16:69499400-69510200	Weak transcription	K562	blood
13	chr16:69499400-69515000	Weak transcription	Thymus	Thymus
14	chr16:69499600-69510200	Weak transcription	NHDF-Ad	bronchial
15	chr16:69499800-69510200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr16:69500000-69510800	Weak transcription	NH-A	brain
17	chr16:69500600-69510200	Weak transcription	NHLF	lung
18	chr16:69500600-69510400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr16:69500600-69510400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr16:69500600-69515600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr16:69501000-69510400	Weak transcription	HMEC	breast
22	chr16:69501200-69516600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr16:69501600-69516000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr16:69502000-69515200	Weak transcription	Primary T cells from cord blood	blood
25	chr16:69502200-69510400	Weak transcription	NHEK	skin
26	chr16:69502800-69510400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr16:69502800-69510400	Weak transcription	Hela-S3	cervix
28	chr16:69503000-69510400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr16:69504200-69510200	Weak transcription	Placenta	Placenta
30	chr16:69504200-69510200	Weak transcription	A549	lung
31	chr16:69504400-69514800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr16:69505200-69510200	Weak transcription	HepG2	liver
33	chr16:69505200-69514800	Weak transcription	Spleen	Spleen
34	chr16:69505600-69510000	Weak transcription	Primary hematopoietic stem cells	blood
35	chr16:69505600-69510200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr16:69505600-69514800	Weak transcription	Primary B cells from peripheral blood	blood
37	chr16:69506000-69510200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr16:69507200-69511800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr16:69507600-69514000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr16:69507800-69509800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr16:69508200-69509600	Enhancers	Osteobl	bone
42	chr16:69509400-69510600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr16:69509400-69512200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr16:69509600-69509800	Enhancers	Fetal Muscle Trunk	muscle
45	chr16:69509600-69510000	Weak transcription	Osteobl	bone
46	chr16:69509800-69510200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr16:69509800-69510400	Weak transcription	Fetal Kidney	kidney
48	chr16:69509800-69510800	Weak transcription	Fetal Muscle Trunk	muscle
49	chr16:69510000-69510800	Enhancers	Osteobl	bone
50	chr16:69510000-69513600	Enhancers	Primary hematopoietic stem cells	blood

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