Variant report

Variant	nsv518507
Chromosome Location	chr8:9290056-9298347
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:104)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:104 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:9291262-9291958	HepG2	liver:	n/a	n/a
2	CEBPB	chr8:9295186-9295259	K562	blood:	n/a	n/a
3	CEBPB	chr8:9293602-9293928	HepG2	liver:	n/a	chr8:9293763-9293774
4	CTCF	chr8:9290080-9290230	GM12872	blood:	n/a	n/a
5	CTCF	chr8:9290120-9290270	GM12874	blood:	n/a	n/a
6	CTCF	chr8:9290100-9290250	RPTEC	kidney:	n/a	n/a
7	CTCF	chr8:9290233-9290237	K562	blood:	n/a	n/a
8	CTCF	chr8:9290060-9290210	HCT-116	colon:	n/a	n/a
9	CTCF	chr8:9290040-9290190	GM12866	blood:	n/a	n/a
10	CTCF	chr8:9290240-9290390	GM12866	blood:	n/a	n/a
11	CTCF	chr8:9290140-9290290	HCT-116	colon:	n/a	n/a
12	CTCF	chr8:9294237-9294256	GM19240	blood:	n/a	n/a
13	CTCF	chr8:9290120-9290270	GM12873	blood:	n/a	n/a
14	CTCF	chr8:9290080-9290230	AoAF	blood vessel:	n/a	n/a
15	CTCF	chr8:9290100-9290250	GM12875	blood:	n/a	n/a
16	CTCF	chr8:9290100-9290250	HepG2	liver:	n/a	n/a
17	CTCF	chr8:9294260-9294264	GM19240	blood:	n/a	n/a
18	CTCF	chr8:9290080-9290230	BE2_C	brain:	n/a	n/a
19	CTCF	chr8:9290120-9290270	HEK293	kidney:	n/a	n/a
20	CTCF	chr8:9290180-9290330	GM12872	blood:	n/a	n/a
21	CTCF	chr8:9290193-9290227	HUVEC	blood vessel:	n/a	n/a
22	CTCF	chr8:9290080-9290230	GM12864	blood:	n/a	n/a
23	CTCF	chr8:9290120-9290270	BE2_C	brain:	n/a	n/a
24	CTCF	chr8:9290207-9290231	K562	blood:	n/a	n/a
25	CTCF	chr8:9290120-9290270	GM12864	blood:	n/a	n/a
26	CTCF	chr8:9290080-9290230	HCFaa	heart:	n/a	n/a
27	CTCF	chr8:9290180-9290330	K562	blood:	n/a	n/a
28	CTCF	chr8:9290120-9290270	HRE	kidney:	n/a	n/a
29	CTCF	chr8:9290120-9290270	HVMF	connective:	n/a	n/a
30	CTCF	chr8:9290080-9290230	A549	lung:	n/a	n/a
31	CTCF	chr8:9290257-9290279	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr8:9290160-9290310	GM12873	blood:	n/a	n/a
33	CTCF	chr8:9290100-9290250	NHEK	skin:	n/a	n/a
34	CTCF	chr8:9290080-9290230	HBMEC	blood vessel:	n/a	n/a
35	CTCF	chr8:9290120-9290270	GM12871	blood:	n/a	n/a
36	CTCF	chr8:9290080-9290230	HMF	breast:	n/a	n/a
37	CTCF	chr8:9290060-9290210	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr8:9290020-9290170	GM06990	blood:	n/a	n/a
39	CTCF	chr8:9290120-9290270	SK-N-SH_RA	brain:	n/a	n/a
40	CTCF	chr8:9290060-9290210	AG04450	lung:	n/a	n/a
41	CTCF	chr8:9290080-9290230	HCPEpiC	choroid plexus:	n/a	n/a
42	CTCF	chr8:9290080-9290230	GM12865	blood:	n/a	n/a
43	CTCFL	chr8:9290117-9290261	K562	blood:	n/a	n/a
44	E2F6	chr8:9296077-9296307	K562	blood:	n/a	n/a
45	E2F6	chr8:9296022-9296383	K562	blood:	n/a	n/a
46	E2F6	chr8:9296082-9296337	K562	blood:	n/a	n/a
47	EP300	chr8:9291818-9291832	HepG2	liver:	n/a	n/a
48	FOS	chr8:9293661-9293866	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr8:9293676-9293920	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr8:9291657-9291911	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPP1R3B-4	chr8:9293542-9293715	ENSG00000254237

No data

Variant related genes	Relation type
ENSG00000254237	TF binding region

Extended variants
information (count: 400 )
Associated
traits (count: 136 )

Variant overlapped rSNPs/rCNVs (count:400 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6981702	chr8:9290056-9290057	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs111898406	chr8:9290057-9290058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545969034	chr8:9290073-9290074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs180942436	chr8:9290112-9290113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10092329	chr8:9290113-9290114	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs140916679	chr8:9290127-9290128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187055681	chr8:9290141-9290142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574840836	chr8:9290145-9290146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149387934	chr8:9290152-9290153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560832533	chr8:9290171-9290172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532730366	chr8:9290175-9290176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552713971	chr8:9290224-9290225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113713837	chr8:9290233-9290234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192392050	chr8:9290243-9290244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144738173	chr8:9290247-9290248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576699550	chr8:9290249-9290250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545335365	chr8:9290250-9290251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564827005	chr8:9290256-9290257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547116933	chr8:9290257-9290258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182237436	chr8:9290328-9290329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4841146	chr8:9290345-9290346	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs556437376	chr8:9290373-9290374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7813967	chr8:9290404-9290405	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs535651302	chr8:9290442-9290443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527727924	chr8:9290444-9290445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139991045	chr8:9290453-9290454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7814107	chr8:9290468-9290469	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs10108179	chr8:9290520-9290521	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs549339298	chr8:9290553-9290554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs117040346	chr8:9290554-9290555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546142598	chr8:9290565-9290566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562849953	chr8:9290578-9290579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531743184	chr8:9290591-9290592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548421326	chr8:9290593-9290594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs4841147	chr8:9290599-9290600	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs116771428	chr8:9290607-9290608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547491592	chr8:9290622-9290623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570318366	chr8:9290645-9290646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550360808	chr8:9290649-9290650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146741005	chr8:9290657-9290658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549763732	chr8:9290695-9290696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570014705	chr8:9290740-9290741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535637763	chr8:9290742-9290743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555637045	chr8:9290749-9290750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7006443	chr8:9290753-9290754	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs56067279	chr8:9290763-9290764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534005866	chr8:9290797-9290798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554253873	chr8:9290806-9290807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs58207704	chr8:9290846-9290847	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs546181653	chr8:9290866-9290867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:136)

Disease	PMID	Source
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
Prostate cancer	16573809	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
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
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Bladder cancer	21909424	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9288800-9290200	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr8:9289000-9290200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:9289400-9293600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:9290200-9291800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr8:9290200-9296000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:9291000-9292200	Enhancers	HepG2	liver
7	chr8:9291800-9292000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr8:9291800-9292200	Enhancers	Fetal Intestine Small	intestine
9	chr8:9292000-9292200	Enhancers	Fetal Intestine Large	intestine
10	chr8:9292200-9293200	Weak transcription	Fetal Intestine Small	intestine
11	chr8:9292200-9293400	Weak transcription	Fetal Intestine Large	intestine
12	chr8:9292200-9293800	Weak transcription	HepG2	liver
13	chr8:9293200-9294200	Enhancers	Fetal Intestine Small	intestine
14	chr8:9293400-9293800	Enhancers	Duodenum Mucosa	Duodenum
15	chr8:9293400-9294200	Enhancers	Fetal Intestine Large	intestine
16	chr8:9293600-9293800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:9293800-9294000	Enhancers	HepG2	liver
18	chr8:9295800-9296400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:9296000-9296200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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