Variant report

Variant	nsv609976
Chromosome Location	chr8:5763806-5827397
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:151)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:151 , 50 per page) page: 1 2 3 4

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	chr8:5790263-5790411	K562	blood:	n/a	n/a
4	CTCF	chr8:5798441-5798516	Gliobla	brain:	n/a	n/a
5	CTCF	chr8:5790260-5790410	BE2_C	brain:	n/a	n/a
6	CTCF	chr8:5798326-5798597	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr8:5790180-5790330	RPTEC	kidney:	n/a	n/a
8	CTCF	chr8:5790260-5790410	HepG2	liver:	n/a	n/a
9	CTCF	chr8:5790220-5790370	HMEC	breast:	n/a	n/a
10	CTCF	chr8:5798380-5798530	Caco-2	colon:	n/a	n/a
11	CTCF	chr8:5798329-5798521	HepG2	liver:	n/a	n/a
12	CTCF	chr8:5790240-5790390	A549	lung:	n/a	n/a
13	CTCF	chr8:5798374-5798543	MCF-7	breast:	n/a	n/a
14	CTCF	chr8:5790300-5790450	GM12873	blood:	n/a	n/a
15	CTCF	chr8:5798353-5798573	MCF-7	breast:	n/a	n/a
16	CTCF	chr8:5790200-5790350	BJ	skin:	n/a	n/a
17	CTCF	chr8:5790240-5790390	HFF	foreskin:	n/a	n/a
18	CTCF	chr8:5798280-5798430	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr8:5798268-5798623	MCF-7	breast:	n/a	n/a
20	CTCF	chr8:5790264-5790372	MCF-7	breast:	n/a	n/a
21	CTCF	chr8:5790174-5790455	GM12878	blood:	n/a	n/a
22	CTCF	chr8:5790180-5790330	HMF	breast:	n/a	n/a
23	CTCF	chr8:5798380-5798530	WERI-Rb-1	eye:	n/a	n/a
24	CTCF	chr8:5790601-5790700	Gliobla	brain:	n/a	n/a
25	CTCF	chr8:5798360-5798510	WERI-Rb-1	eye:	n/a	n/a
26	CTCF	chr8:5790260-5790410	NB4	blood:	n/a	n/a
27	CTCF	chr8:5790220-5790370	MCF-7	breast:	n/a	n/a
28	CTCF	chr8:5798342-5798542	HepG2	liver:	n/a	n/a
29	CTCF	chr8:5790200-5790350	NHDF-neo	bronchial:	n/a	n/a
30	CTCF	chr8:5798357-5798574	MCF-7	breast:	n/a	n/a
31	CTCF	chr8:5790240-5790390	MCF-7	breast:	n/a	n/a
32	CTCF	chr8:5790160-5790431	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr8:5798340-5798490	MCF-7	breast:	n/a	n/a
34	CTCF	chr8:5798351-5798551	GM12878	blood:	n/a	n/a
35	CTCF	chr8:5821241-5821292	Lung_OC	lung:	n/a	n/a
36	CTCF	chr8:5790220-5790370	GM12866	blood:	n/a	n/a
37	CTCF	chr8:5790221-5790400	Gliobla	brain:	n/a	n/a
38	CTCF	chr8:5790220-5790370	HFF-Myc	foreskin:	n/a	n/a
39	CTCF	chr8:5790240-5790390	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr8:5790250-5790429	LNCaP	prostate:	n/a	n/a
41	CTCF	chr8:5790251-5790406	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr8:5790240-5790390	HEK293	kidney:	n/a	n/a
43	CTCF	chr8:5790260-5790410	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr8:5790260-5790410	GM12869	blood:	n/a	n/a
45	CTCF	chr8:5790300-5790450	RPTEC	kidney:	n/a	n/a
46	CTCF	chr8:5790273-5790369	HUVEC	blood vessel:	n/a	n/a
47	CTCF	chr8:5798264-5798632	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr8:5790200-5790350	SK-N-SH_RA	brain:	n/a	n/a
49	CTCF	chr8:5765000-5765150	GM12866	blood:	n/a	n/a
50	CTCF	chr8:5798203-5798596	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:5797855..5798416-chr8:5934095..5934883,2	MCF-7	breast:
2	chr8:5775799..5778570-chr8:6262790..6264825,2	K562	blood:

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

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

No data

Variant related genes	Relation type
RN7SKP159	TF binding region
ENSG00000246089	chromatin interactions
ENSG00000147316	chromatin interactions

Extended variants
information (count: 2077 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:2077 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6997353	chr8:5763806-5763807	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs572809956	chr8:5763817-5763818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533809410	chr8:5763837-5763838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145977596	chr8:5763857-5763858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192729881	chr8:5763858-5763859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571750544	chr8:5763859-5763860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576662933	chr8:5763861-5763862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544056804	chr8:5763862-5763863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184306599	chr8:5763900-5763901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554208309	chr8:5763932-5763933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs61383985	chr8:5763938-5763939	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs541822726	chr8:5763939-5763940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79569903	chr8:5763948-5763949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2840443	chr8:5763950-5763951	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs565560607	chr8:5764006-5764007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532766742	chr8:5764021-5764022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139860536	chr8:5764030-5764031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369366495	chr8:5764076-5764077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530098158	chr8:5764079-5764080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548180340	chr8:5764082-5764083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143006198	chr8:5764113-5764114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533918171	chr8:5764115-5764116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558453555	chr8:5764131-5764132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76389199	chr8:5764134-5764135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556585509	chr8:5764136-5764137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144339903	chr8:5764157-5764158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189127271	chr8:5764177-5764178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574481346	chr8:5764179-5764180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73191717	chr8:5764197-5764198	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs17075059	chr8:5764200-5764201	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs142466800	chr8:5764212-5764213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545791469	chr8:5764230-5764231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565624140	chr8:5764246-5764247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34695389	chr8:5764250-5764251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139903493	chr8:5764251-5764252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114201534	chr8:5764261-5764262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181821932	chr8:5764266-5764267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540416234	chr8:5764267-5764268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548309831	chr8:5764282-5764283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566605984	chr8:5764284-5764285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184829084	chr8:5764294-5764295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs17075062	chr8:5764296-5764297	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs117109874	chr8:5764304-5764305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145343102	chr8:5764305-5764306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556347754	chr8:5764329-5764330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147703400	chr8:5764345-5764346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190440526	chr8:5764353-5764354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115529068	chr8:5764359-5764360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs118089650	chr8:5764361-5764362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557744699	chr8:5764365-5764366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:126)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5762200-5764000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr8:5762200-5764600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:5763400-5764200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr8:5763400-5764600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr8:5763400-5765600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr8:5763400-5765800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr8:5763600-5764200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr8:5763600-5764600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr8:5763800-5764600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr8:5764000-5764200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:5764000-5764600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr8:5764600-5765000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr8:5764600-5765400	Enhancers	H9 Cell Line	embryonic stem cell
14	chr8:5764600-5765600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr8:5765000-5765600	Enhancers	H1 Cell Line	embryonic stem cell
16	chr8:5772600-5774600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:5773000-5774800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:5792200-5794800	Enhancers	Dnd41	blood
19	chr8:5796200-5796600	Enhancers	Fetal Heart	heart
20	chr8:5806600-5809600	Weak transcription	Fetal Heart	heart
21	chr8:5809600-5810800	Enhancers	Fetal Heart	heart
22	chr8:5815200-5816000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:5815400-5816000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr8:5815600-5815800	Weak transcription	Fetal Heart	heart
25	chr8:5815800-5816000	Enhancers	Fetal Heart	heart
26	chr8:5816000-5818600	Weak transcription	Fetal Heart	heart
27	chr8:5816000-5819200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr8:5816000-5819400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:5818600-5820600	Enhancers	Fetal Heart	heart
30	chr8:5819200-5820600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr8:5819400-5820600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:5819600-5820800	Enhancers	Fetal Brain Male	brain
33	chr8:5819800-5820200	Enhancers	Fetal Lung	lung
34	chr8:5819800-5820800	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr8:5820000-5821600	Enhancers	Primary hematopoietic stem cells	blood
36	chr8:5820200-5820600	Enhancers	Brain Germinal Matrix	brain
37	chr8:5820200-5820600	Enhancers	Fetal Brain Female	brain
38	chr8:5820200-5820600	Weak transcription	Fetal Lung	lung
39	chr8:5820600-5820800	Enhancers	Fetal Lung	lung
40	chr8:5820600-5821000	Enhancers	Brain Anterior Caudate	brain
41	chr8:5820600-5821000	Active TSS	Fetal Brain Female	brain
42	chr8:5820600-5821200	Flanking Active TSS	Brain Germinal Matrix	brain
43	chr8:5820600-5821200	Enhancers	Brain Substantia Nigra	brain
44	chr8:5820600-5821200	Flanking Active TSS	Fetal Heart	heart
45	chr8:5820600-5821400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr8:5820600-5821600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr8:5820600-5821600	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr8:5820800-5821000	Enhancers	Brain Cingulate Gyrus	brain
49	chr8:5820800-5821000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr8:5820800-5821200	Active TSS	Adipose Nuclei	Adipose

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