Variant report

Variant	nsv1018453
Chromosome Location	chr6:86555984-86761120
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:583)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:583 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:86632675-86632979	HepG2	liver:	n/a	n/a
2	BACH1	chr6:86576041-86576233	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr6:86578018-86578101	K562	blood:	n/a	n/a
4	BHLHE40	chr6:86685736-86685780	GM12878	blood:	n/a	n/a
5	BHLHE40	chr6:86700819-86701140	GM12878	blood:	n/a	n/a
6	CEBPB	chr6:86646714-86646969	Hela-S3	cervix:	n/a	chr6:86646818-86646827 chr6:86646817-86646828
7	CEBPB	chr6:86646649-86646989	K562	blood:	n/a	chr6:86646818-86646827 chr6:86646817-86646828
8	CEBPB	chr6:86646640-86647004	IMR90	lung:	n/a	chr6:86646818-86646827 chr6:86646817-86646828
9	CEBPB	chr6:86597178-86597556	MCF-7	breast:	n/a	n/a
10	CEBPB	chr6:86646644-86647001	HepG2	liver:	n/a	chr6:86646818-86646827 chr6:86646817-86646828
11	CEBPB	chr6:86646705-86647085	MCF-7	breast:	n/a	chr6:86646818-86646827 chr6:86646817-86646828
12	CEBPB	chr6:86745797-86746103	MCF-7	breast:	n/a	chr6:86746090-86746101 chr6:86746090-86746101 chr6:86746090-86746103 chr6:86746090-86746103
13	CEBPB	chr6:86565051-86565149	H1-hESC	embryonic stem cell:	n/a	n/a
14	CEBPB	chr6:86646644-86647001	H1-hESC	embryonic stem cell:	n/a	chr6:86646818-86646827 chr6:86646817-86646828
15	CEBPB	chr6:86646680-86646987	A549	lung:	n/a	chr6:86646818-86646827 chr6:86646817-86646828
16	CEBPB	chr6:86632747-86633096	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD1	chr6:86602177-86602393	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD2	chr6:86685802-86685933	GM12878	blood:	n/a	n/a
19	CTCF	chr6:86632716-86632970	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr6:86632756-86632989	GM19239	blood:	n/a	n/a
21	CTCF	chr6:86683141-86683225	LNCaP	prostate:	n/a	n/a
22	CTCF	chr6:86574400-86574425	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr6:86632814-86632935	MCF-7	breast:	n/a	n/a
24	CTCF	chr6:86574320-86574470	AG10803	skin:	n/a	n/a
25	CTCF	chr6:86574380-86574530	A549	lung:	n/a	n/a
26	CTCF	chr6:86632731-86632953	GM13976	blood:	n/a	n/a
27	CTCF	chr6:86574360-86574510	HCT-116	colon:	n/a	n/a
28	CTCF	chr6:86574260-86574410	BJ	skin:	n/a	n/a
29	CTCF	chr6:86727080-86727230	GM12872	blood:	n/a	n/a
30	CTCF	chr6:86574320-86574470	HUVEC	blood vessel:	n/a	n/a
31	CTCF	chr6:86683040-86683190	GM12869	blood:	n/a	n/a
32	CTCF	chr6:86632567-86633111	HCT-116	colon:	n/a	n/a
33	CTCF	chr6:86632720-86632870	GM12871	blood:	n/a	n/a
34	CTCF	chr6:86738700-86738850	GM06990	blood:	n/a	n/a
35	CTCF	chr6:86575320-86575470	HCPEpiC	choroid plexus:	n/a	n/a
36	CTCF	chr6:86574364-86574453	K562	blood:	n/a	n/a
37	CTCF	chr6:86633020-86633170	GM12875	blood:	n/a	n/a
38	CTCF	chr6:86632800-86632950	HUVEC	blood vessel:	n/a	n/a
39	CTCF	chr6:86574280-86574430	RPTEC	kidney:	n/a	n/a
40	CTCF	chr6:86574320-86574470	NHEK	skin:	n/a	n/a
41	CTCF	chr6:86727040-86727190	GM12873	blood:	n/a	n/a
42	CTCF	chr6:86632760-86632910	GM12872	blood:	n/a	n/a
43	CTCF	chr6:86632730-86632954	GM13977	blood:	n/a	n/a
44	CTCF	chr6:86574320-86574470	AG04449	skin:	n/a	n/a
45	CTCF	chr6:86632740-86632890	HCFaa	heart:	n/a	n/a
46	CTCF	chr6:86632780-86632930	SAEC	small airway:	n/a	n/a
47	CTCF	chr6:86727000-86727150	GM12872	blood:	n/a	n/a
48	CTCF	chr6:86574380-86574530	HBMEC	blood vessel:	n/a	n/a
49	CTCF	chr6:86574540-86574690	HUVEC	blood vessel:	n/a	n/a
50	CTCF	chr6:86574400-86574550	Caco-2	colon:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:86657984..86660030-chr6:86660418..86662554,2	MCF-7	breast:
2	chr6:86722649..86724742-chr6:86768609..86770800,2	MCF-7	breast:
3	chr6:86597171..86598674-chr6:86601290..86603346,2	K562	blood:
4	chr6:86679171..86681936-chr6:86686395..86689125,2	K562	blood:
5	chr6:86741107..86743196-chr6:86766246..86768757,2	MCF-7	breast:
6	chr6:86534169..86534685-chr6:86574198..86574815,2	MCF-7	breast:
7	chr6:86386983..86389313-chr6:86573645..86576019,2	MCF-7	breast:
8	chr6:86597171..86598674-chr6:86601290..86603346,2	K562	blood:
9	chr6:86632367..86633291-chr6:86884579..86885474,2	MCF-7	breast:
10	chr6:86657984..86660030-chr6:86660418..86662554,2	MCF-7	breast:
11	chr6:86632071..86633265-chr6:86884594..86886454,5	MCF-7	breast:
12	chr6:86632253..86632927-chr6:87646756..87647373,2	K562	blood:
13	chr6:86679171..86681936-chr6:86686395..86689125,2	K562	blood:
14	chr11:2172562..2173427-chr6:86699284..86699804,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NT5E-7	chr6:86565538-86565836	NONHSAT113873
2	lnc-NT5E-8	chr6:86578671-86579182	NONHSAT113874
3	lnc-NT5E-7	chr6:86571835-86571903	NONHSAT113873

No data

Variant related genes	Relation type
ENSG00000218766	TF binding region
RNU4-12P	TF binding region
ENSG00000203875	chromatin interactions
ENSG00000168830	chromatin interactions

Extended variants
information (count: 5232 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:5232 , 50 per page) page: 1 2 3 4 5 6 7 ... 105

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577870043	chr6:86556018-86556019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533048010	chr6:86556056-86556057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371350112	chr6:86556057-86556058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552035818	chr6:86556069-86556070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567046601	chr6:86556094-86556095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528009399	chr6:86556147-86556148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114719702	chr6:86556154-86556155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567657090	chr6:86556155-86556156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139688276	chr6:86556164-86556165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186581233	chr6:86556181-86556182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79647378	chr6:86556184-86556185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112592500	chr6:86556194-86556195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145200335	chr6:86556205-86556206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527298320	chr6:86556207-86556208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374988805	chr6:86556226-86556227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557555038	chr6:86556231-86556232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572666720	chr6:86556237-86556238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201173682	chr6:86556270-86556271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547502282	chr6:86556281-86556282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191420780	chr6:86556309-86556310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376981366	chr6:86556321-86556322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555325306	chr6:86556350-86556351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573876824	chr6:86556373-86556374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543909205	chr6:86556382-86556383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150558269	chr6:86556409-86556410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577839168	chr6:86556422-86556423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139533156	chr6:86556452-86556453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111540424	chr6:86556455-86556456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530814251	chr6:86556467-86556468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550270074	chr6:86556475-86556476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527842281	chr6:86556480-86556481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184405972	chr6:86556491-86556492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556438539	chr6:86556506-86556507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532018625	chr6:86556515-86556516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549938058	chr6:86556539-86556540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs80221441	chr6:86556545-86556546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571281950	chr6:86556551-86556552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567319713	chr6:86556576-86556577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145482098	chr6:86556585-86556586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs117855110	chr6:86556621-86556622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs13201730	chr6:86556647-86556648	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs533791024	chr6:86556651-86556652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555528178	chr6:86556654-86556655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115605719	chr6:86556655-86556656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528588357	chr6:86556658-86556659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188146058	chr6:86556663-86556664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535889941	chr6:86556670-86556671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556216572	chr6:86556673-86556674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140213558	chr6:86556692-86556693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192712343	chr6:86556722-86556723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	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
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	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
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
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	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
Lung adenocarcinoma	21935476	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
craniofacial dysmorphism	21918468	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD
abnormal development	18461090	CNVD
Myelodysplastic syndrome	18508791	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:529 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:86546800-86556800	Weak transcription	Right Atrium	heart
2	chr6:86556800-86557000	ZNF genes & repeats	Right Atrium	heart
3	chr6:86562800-86564200	Enhancers	Ovary	ovary
4	chr6:86563000-86563200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:86563200-86577800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:86563400-86567000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr6:86563800-86564000	ZNF genes & repeats	Pancreas	Pancrea
8	chr6:86564000-86566400	Weak transcription	Pancreas	Pancrea
9	chr6:86564200-86565200	Weak transcription	Ovary	ovary
10	chr6:86565000-86565400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr6:86565200-86565400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr6:86565200-86566800	Enhancers	Ovary	ovary
13	chr6:86566400-86566600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr6:86566400-86566600	Enhancers	Pancreas	Pancrea
15	chr6:86566600-86573400	Weak transcription	Pancreas	Pancrea
16	chr6:86566800-86574200	Weak transcription	Ovary	ovary
17	chr6:86568200-86576800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:86572400-86574800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr6:86573000-86573600	Enhancers	Esophagus	oesophagus
20	chr6:86573400-86575600	Enhancers	Pancreas	Pancrea
21	chr6:86573600-86574400	Weak transcription	Esophagus	oesophagus
22	chr6:86573800-86574800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr6:86574000-86574200	Enhancers	Stomach Smooth Muscle	stomach
24	chr6:86574000-86574600	Enhancers	Rectal Smooth Muscle	rectum
25	chr6:86574000-86574800	Enhancers	HUVEC	blood vessel
26	chr6:86574000-86575200	Enhancers	Fetal Lung	lung
27	chr6:86574000-86575200	Enhancers	NHEK	skin
28	chr6:86574200-86574600	Enhancers	Aorta	Aorta
29	chr6:86574200-86574600	Enhancers	Colon Smooth Muscle	Colon
30	chr6:86574200-86574600	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr6:86574200-86574800	Enhancers	Ovary	ovary
32	chr6:86574200-86575000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:86574200-86575000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr6:86574200-86575200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr6:86574200-86575200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr6:86574200-86575400	Enhancers	Fetal Intestine Large	intestine
37	chr6:86574200-86575400	Enhancers	Fetal Muscle Leg	muscle
38	chr6:86574200-86575400	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr6:86574400-86574600	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr6:86574400-86574600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr6:86574400-86574600	Enhancers	Gastric	stomach
42	chr6:86574400-86574800	Enhancers	HepG2	liver
43	chr6:86574400-86575000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr6:86574400-86575000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr6:86574400-86575000	Active TSS	Duodenum Mucosa	Duodenum
46	chr6:86574400-86575000	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr6:86574400-86575000	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr6:86574400-86575000	Enhancers	Dnd41	blood
49	chr6:86574400-86575200	Enhancers	Brain Hippocampus Middle	brain
50	chr6:86574400-86575200	Enhancers	Fetal Kidney	kidney

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