Variant report

Variant	nsv1034596
Chromosome Location	chr8:5764296-5775335
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	CEBPB	chr8:5766581-5766595	A549	lung:	n/a	n/a
3	CTCF	chr8:5765000-5765150	GM12866	blood:	n/a	n/a
4	FAM48A	chr8:5766471-5766638	GM12878	blood:	n/a	n/a
5	FOXP2	chr8:5765234-5765784	SK-N-MC	brain:	n/a	n/a
6	MAFF	chr8:5769203-5769430	HepG2	liver:	n/a	chr8:5769301-5769319
7	MAFK	chr8:5769268-5769361	Hela-S3	cervix:	n/a	chr8:5769307-5769318 chr8:5769302-5769318 chr8:5769307-5769318 chr8:5769298-5769315 chr8:5769302-5769317
8	MAFK	chr8:5769182-5769420	HepG2	liver:	n/a	chr8:5769307-5769318 chr8:5769302-5769318 chr8:5769307-5769318 chr8:5769298-5769315 chr8:5769302-5769317
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	MAX	chr8:5767417-5767550	NB4	blood:	n/a	n/a
11	MAZ	chr8:5774950-5774988	GM12878	blood:	n/a	n/a
12	POLR2A	chr8:5765186-5765848	SK-N-MC	brain:	n/a	n/a
13	POLR2A	chr8:5765029-5765208	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANGPT2-12	chr8:5768467-5768758	NONHSAT124763

Variant related genes	Relation type
RN7SKP159	TF binding region

Extended variants
information (count: 326 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:326 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17075062	chr8:5764296-5764297	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs117109874	chr8:5764304-5764305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145343102	chr8:5764305-5764306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556347754	chr8:5764329-5764330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147703400	chr8:5764345-5764346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190440526	chr8:5764353-5764354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115529068	chr8:5764359-5764360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs118089650	chr8:5764361-5764362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557744699	chr8:5764365-5764366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577468346	chr8:5764424-5764425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78509350	chr8:5764427-5764428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563181574	chr8:5764428-5764429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574961920	chr8:5764437-5764438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142426769	chr8:5764446-5764447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375355668	chr8:5764447-5764448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527741053	chr8:5764451-5764452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552159452	chr8:5764467-5764468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564298298	chr8:5764474-5764475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531647349	chr8:5764482-5764483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs180753127	chr8:5764525-5764526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551027140	chr8:5764531-5764532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570994368	chr8:5764553-5764554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549839819	chr8:5764581-5764582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531160634	chr8:5764606-5764607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551072016	chr8:5764619-5764620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs74411090	chr8:5764620-5764621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535693476	chr8:5764629-5764630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547603001	chr8:5764641-5764642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs118009182	chr8:5764642-5764643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557756167	chr8:5764653-5764654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs370755689	chr8:5764672-5764673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs2840444	chr8:5764686-5764687	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs76196825	chr8:5764705-5764706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556632641	chr8:5764707-5764708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs370956602	chr8:5764716-5764717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542029107	chr8:5764783-5764784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs6983145	chr8:5764800-5764801	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs17075065	chr8:5764839-5764840	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs545860994	chr8:5764847-5764848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564586759	chr8:5764868-5764869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs145569205	chr8:5764893-5764894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550143964	chr8:5764903-5764904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371433468	chr8:5764911-5764912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs79654046	chr8:5764917-5764918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs2840445	chr8:5764942-5764943	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
46	rs547615343	chr8:5764947-5764948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs368431185	chr8:5764954-5764955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs77343239	chr8:5764968-5764969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551216521	chr8:5764997-5764998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576510150	chr8:5765004-5765005	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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5762200-5764600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:5763400-5764600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr8:5763400-5765600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr8:5763400-5765800	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr8:5763600-5764600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr8:5763800-5764600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr8:5764000-5764600	Enhancers	H1 Cell Line	embryonic stem cell
8	chr8:5764600-5765000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr8:5764600-5765400	Enhancers	H9 Cell Line	embryonic stem cell
10	chr8:5764600-5765600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr8:5765000-5765600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr8:5772600-5774600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:5773000-5774800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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