Variant report

Variant	nsv1034664
Chromosome Location	chr8:5753719-5771818
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr8:5765727-5765858	H1-hESC	embryonic stem cell:	n/a	n/a
2	BRCA1	chr8:5754693-5754799	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr8:5766581-5766595	A549	lung:	n/a	n/a
4	CTCF	chr8:5765000-5765150	GM12866	blood:	n/a	n/a
5	FAM48A	chr8:5766471-5766638	GM12878	blood:	n/a	n/a
6	FOXP2	chr8:5765234-5765784	SK-N-MC	brain:	n/a	n/a
7	IRF1	chr8:5754596-5754973	K562	blood:	n/a	n/a
8	MAFF	chr8:5769203-5769430	HepG2	liver:	n/a	chr8:5769301-5769319
9	MAFK	chr8:5769189-5769458	HepG2	liver:	n/a	chr8:5769307-5769318 chr8:5769302-5769318 chr8:5769307-5769318 chr8:5769298-5769315 chr8:5769302-5769317
10	MAFK	chr8:5769182-5769420	HepG2	liver:	n/a	chr8:5769307-5769318 chr8:5769302-5769318 chr8:5769307-5769318 chr8:5769298-5769315 chr8:5769302-5769317
11	MAFK	chr8:5769268-5769361	Hela-S3	cervix:	n/a	chr8:5769307-5769318 chr8:5769302-5769318 chr8:5769307-5769318 chr8:5769298-5769315 chr8:5769302-5769317
12	MAX	chr8:5767417-5767550	NB4	blood:	n/a	n/a
13	POLR2A	chr8:5762094-5762279	A549	lung:	n/a	n/a
14	POLR2A	chr8:5765029-5765208	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr8:5762042-5762044	Gliobla	brain:	n/a	n/a
16	POLR2A	chr8:5765186-5765848	SK-N-MC	brain:	n/a	n/a
17	POLR2A	chr8:5762105-5762172	Gliobla	brain:	n/a	n/a
18	STAT3	chr8:5760468-5760760	MCF10A-Er-Src	breast:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:5762944-5762994	GM19239	blood:	n/a
2	chr8:5762944-5762994	GM12891	blood:	n/a
3	chr8:5762990-5763040	AG04449	skin:	fetal
4	chr8:5762990-5763040	HNPCEpiC	eye:	n/a
5	chr8:5762944-5762994	Hepatocyte	liver:	n/a
6	chr8:5762990-5763040	HRE	kidney:	n/a
7	chr8:5762990-5763040	K562	blood:	n/a
8	chr8:5762990-5763040	HMEC	breast:	n/a
9	chr8:5762990-5763040	Jurkat	blood:	n/a
10	chr8:5762944-5762994	HL-60	blood:	n/a
11	chr8:5762990-5763040	MCF-7	breast:	n/a
12	chr8:5762944-5762994	AG09309	skin:	n/a
13	chr8:5762990-5763040	IMR90	lung:	fetal
14	chr8:5762990-5763040	BJ	skin:	n/a
15	chr8:5762944-5762994	NT2-D1	testis:	n/a
16	chr8:5762990-5763040	NHDF-neo	bronchial:	n/a
17	chr8:5762990-5763040	PANC-1	pancreas:	n/a
18	chr8:5762990-5763040	HEEpiC	esophagus:	n/a
19	chr8:5762944-5762994	Caco-2	colon:	n/a
20	chr8:5762944-5762994	PrEC	prostate:	n/a
21	chr8:5762944-5762994	HCM	heart:	n/a
22	chr8:5762990-5763040	HUVEC	blood vessel:	n/a
23	chr8:5762944-5762994	LNCaP	prostate:	n/a
24	chr8:5762990-5763040	RPTEC	kidney:	n/a
25	chr8:5762944-5762994	BE2_C	brain:	n/a
26	chr8:5762944-5762994	NHBE	bronchial:	n/a
27	chr8:5762944-5762994	SKMC	muscle:	n/a
28	chr8:5762944-5762994	RPTEC	kidney:	n/a
29	chr8:5762944-5762994	HCT-116	colon:	n/a
30	chr8:5762990-5763040	ProgFib	skin:	n/a
31	chr8:5762990-5763040	NT2-D1	testis:	n/a
32	chr8:5762990-5763040	Hepatocyte	liver:	n/a
33	chr8:5762990-5763040	GM19239	blood:	n/a
34	chr8:5762944-5762994	NH-A	brain:	n/a
35	chr8:5762990-5763040	SAEC	small airway:	n/a
36	chr8:5762990-5763040	NHBE	bronchial:	n/a
37	chr8:5762990-5763040	HepG2	liver:	n/a
38	chr8:5762990-5763040	HPAEpiC	pulmonary alveolar:	n/a
39	chr8:5762990-5763040	HCF	heart:	n/a
40	chr8:5762990-5763040	HCPEpiC	choroid plexus:	n/a
41	chr8:5762944-5762994	GM12892	blood:	n/a
42	chr8:5762990-5763040	AoSMC	blood vessel:	n/a
43	chr8:5762990-5763040	HAEpiC	amniotic membrane:	n/a
44	chr8:5762944-5762994	A549	lung:	n/a
45	chr8:5762944-5762994	Jurkat	blood:	n/a
46	chr8:5762990-5763040	ovcar-3	ovarian:	n/a
47	chr8:5762990-5763040	GM12891	blood:	n/a
48	chr8:5762990-5763040	NB4	blood:	n/a
49	chr8:5762990-5763040	Hela-S3	cervix:	n/a
50	chr8:5762944-5762994	HIPEpiC	eye:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANGPT2-12	chr8:5768467-5768758	NONHSAT124763
2	lnc-ANGPT2-6	chr8:5757144-5757253	XLOC_006982

No data

Variant related genes	Relation type
RN7SKP159	TF binding region
RN7SKP159	CpG island

Extended variants
information (count: 604 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:604 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72624089	chr8:5755014-5755015	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs537439357	chr8:5755026-5755027	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs140545113	chr8:5755037-5755038	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs375912999	chr8:5755051-5755052	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs375633504	chr8:5755059-5755060	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs574445468	chr8:5755064-5755065	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs549803601	chr8:5755069-5755070	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs541742763	chr8:5755075-5755076	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs553613964	chr8:5755123-5755124	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs571992221	chr8:5755124-5755125	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs118149258	chr8:5755159-5755160	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs564299963	chr8:5755178-5755179	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs72624090	chr8:5755186-5755187	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs550961514	chr8:5755194-5755195	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs145632430	chr8:5755196-5755197	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs138367324	chr8:5755197-5755198	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs547402696	chr8:5755223-5755224	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs72624091	chr8:5755228-5755229	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs527985137	chr8:5755231-5755232	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs533629306	chr8:5755232-5755233	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs192446711	chr8:5755236-5755237	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs537956538	chr8:5755246-5755247	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs149589071	chr8:5755258-5755259	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs568128705	chr8:5755260-5755261	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs535490089	chr8:5755263-5755264	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs115455365	chr8:5755280-5755281	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs368145067	chr8:5755287-5755288	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs572295388	chr8:5755292-5755293	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs539708213	chr8:5755314-5755315	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs557674375	chr8:5755362-5755363	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs576159846	chr8:5755374-5755375	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs374523720	chr8:5757176-5757177	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs578184465	chr8:5757182-5757183	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs375753627	chr8:5757202-5757203	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs115423223	chr8:5757210-5757211	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs557585352	chr8:5757213-5757214	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs192381572	chr8:5757214-5757215	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs115158168	chr8:5759407-5759408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554889538	chr8:5759420-5759421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562130819	chr8:5759450-5759451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs76122622	chr8:5759457-5759458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs149147527	chr8:5759502-5759503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574641279	chr8:5759515-5759516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548283498	chr8:5759521-5759522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs188827213	chr8:5759528-5759529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs568315871	chr8:5759538-5759539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs376667031	chr8:5759556-5759557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543469379	chr8:5759583-5759584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs17075048	chr8:5759594-5759595	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs551777910	chr8:5759595-5759596	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:125)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Cancer	20164920	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21829676	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Prostate cancer	17217626	CNVD
Developmental delay	19128483	CNVD
Neuroticism	17667963	CNVD
Leukoplakia	24403051	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chronic myeloid leukemia	21384125	CNVD
Tetralogy of Fallot	22912587	CNVD
Type 2 diabetes	21526130	CNVD
Medulloblastoma	16783165	CNVD
Schizophrenia	20967226	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5755000-5755400	Active TSS	Hela-S3	cervix
2	chr8:5759400-5759600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr8:5759400-5759600	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr8:5759600-5760200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr8:5759800-5761000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr8:5760200-5761600	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr8:5760800-5761600	Enhancers	H1 Cell Line	embryonic stem cell
8	chr8:5761000-5761400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr8:5761000-5761600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr8:5761400-5762000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:5761400-5763400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr8:5761600-5762000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr8:5761600-5763400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr8:5761600-5763400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr8:5762000-5762200	Enhancers	H1 Cell Line	embryonic stem cell
16	chr8:5762000-5762200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr8:5762000-5762400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:5762200-5764000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr8:5762200-5764600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:5763400-5763600	Enhancers	H9 Cell Line	embryonic stem cell
21	chr8:5763400-5764200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr8:5763400-5764600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr8:5763400-5765600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr8:5763400-5765800	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr8:5763600-5764200	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr8:5763600-5764600	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr8:5763800-5764600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr8:5764000-5764200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr8:5764000-5764600	Enhancers	H1 Cell Line	embryonic stem cell
30	chr8:5764600-5765000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr8:5764600-5765400	Enhancers	H9 Cell Line	embryonic stem cell
32	chr8:5764600-5765600	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr8:5765000-5765600	Enhancers	H1 Cell Line	embryonic stem cell

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