Variant report

Variant	nsv610224
Chromosome Location	chr8:9228763-9242557
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	chr8:9237732-9237985	K562	blood:	n/a	n/a
2	BACH1	chr8:9237674-9237953	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr8:9237710-9238179	K562	blood:	n/a	n/a
4	CBX3	chr8:9230323-9230652	K562	blood:	n/a	n/a
5	EP300	chr8:9237700-9238045	K562	blood:	n/a	n/a
6	EP300	chr8:9237875-9237974	K562	blood:	n/a	n/a
7	FOSL1	chr8:9237525-9238339	HCT-116	colon:	n/a	chr8:9237847-9237855 chr8:9237846-9237856 chr8:9237846-9237856 chr8:9237846-9237856
8	GATA3	chr8:9232217-9232361	SH-SY5Y	brain:	n/a	n/a
9	GATA3	chr8:9228861-9228951	SH-SY5Y	brain:	n/a	n/a
10	IRF1	chr8:9237491-9237577	K562	blood:	n/a	n/a
11	JUND	chr8:9237632-9238133	K562	blood:	n/a	chr8:9237847-9237855 chr8:9237846-9237856 chr8:9237846-9237856 chr8:9237846-9237856
12	JUND	chr8:9237578-9238371	HCT-116	colon:	n/a	chr8:9237847-9237855 chr8:9237846-9237856 chr8:9237846-9237856 chr8:9237846-9237856
13	KAP1	chr8:9230457-9231090	K562	blood:	n/a	n/a
14	MAFF	chr8:9236648-9236937	K562	blood:	n/a	n/a
15	MAFF	chr8:9237659-9237941	K562	blood:	n/a	n/a
16	MAFK	chr8:9236771-9236815	HepG2	liver:	n/a	n/a
17	MAFK	chr8:9236728-9236853	K562	blood:	n/a	n/a
18	MAFK	chr8:9236691-9236858	HepG2	liver:	n/a	n/a
19	MAFK	chr8:9237609-9237964	K562	blood:	n/a	n/a
20	MAFK	chr8:9237609-9237921	H1-hESC	embryonic stem cell:	n/a	n/a
21	MAX	chr8:9240972-9241245	H1-hESC	embryonic stem cell:	n/a	chr8:9241088-9241097 chr8:9241087-9241098 chr8:9241088-9241097
22	MAX	chr8:9237569-9238397	HCT-116	colon:	n/a	chr8:9237863-9237871
23	MAX	chr8:9237669-9237856	K562	blood:	n/a	n/a
24	MAX	chr8:9237627-9237899	K562	blood:	n/a	chr8:9237863-9237871
25	MYC	chr8:9234641-9234840	MCF10A-Er-Src	breast:	n/a	n/a
26	NFYB	chr8:9233447-9233557	Hela-S3	cervix:	n/a	n/a
27	PAX5	chr8:9238022-9238275	GM12878	blood:	n/a	n/a
28	PAX5	chr8:9238026-9238216	GM12878	blood:	n/a	n/a
29	POLR2A	chr8:9236483-9236649	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr8:9235704-9236262	SK-N-MC	brain:	n/a	n/a
31	SETDB1	chr8:9230299-9230953	U2OS	brain:	n/a	n/a
32	SP1	chr8:9237491-9238451	HCT-116	colon:	n/a	n/a
33	SPI1	chr8:9240127-9240352	K562	blood:	n/a	chr8:9240237-9240246 chr8:9240235-9240248 chr8:9240236-9240249 chr8:9240238-9240245
34	STAT3	chr8:9231907-9232095	MCF10A-Er-Src	breast:	n/a	n/a
35	STAT3	chr8:9237746-9237917	MCF10A-Er-Src	breast:	n/a	n/a
36	UBTF	chr8:9237681-9237886	K562	blood:	n/a	n/a
37	UBTF	chr8:9237772-9237931	K562	blood:	n/a	n/a
38	USF1	chr8:9240922-9241325	ECC-1	luminal epithelium:	n/a	n/a
39	USF1	chr8:9240903-9241241	K562	blood:	n/a	n/a
40	USF2	chr8:9240971-9241120	Hela-S3	cervix:	n/a	n/a
41	USF2	chr8:9241186-9241256	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:9239162..9240719-chr8:9243045..9245390,2	K562	blood:
2	chr8:9239070..9241481-chr8:9260327..9263090,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPP1R3B-4	chr8:9232408-9232649	ENSG00000254237
2	lnc-TNKS-6	chr8:9233409-9235120	NONHSAT124952
3	lnc-RP11-10A14.4.1-4	chr8:9227324-9230000	ucscGeneNc_uc003wsq_1
4	lnc-PPP1R3B-4	chr8:9229480-9229649	ENSG00000254237
5	lnc-PPP1R3B-4	chr8:9230365-9230616	ENSG00000254237
6	lnc-PPP1R3B-4	chr8:9232444-9232475	ENSG00000254237
7	lnc-PPP1R3B-4	chr8:9237490-9237882	ENSG00000254237
8	lnc-PPP1R3B-4	chr8:9241382-9241510	ENSG00000254237
9	lnc-PPP1R3B-4	chr8:9241382-9241510	ENSG00000254237

Variant related genes	Relation type
ENSG00000254237	TF binding region
RNU6-526P	TF binding region

Extended variants
information (count: 768 )
Associated
traits (count: 137 )

Variant overlapped rSNPs/rCNVs (count:768 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6601300	chr8:9228763-9228764	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570084975	chr8:9228770-9228771	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs535597806	chr8:9228794-9228795	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs143994836	chr8:9228827-9228828	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs538711400	chr8:9228835-9228836	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs565917107	chr8:9228874-9228875	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs535043650	chr8:9228978-9228979	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs191740732	chr8:9229028-9229029	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs533093800	chr8:9229089-9229090	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs578260614	chr8:9229102-9229103	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs374277809	chr8:9229126-9229127	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs11779019	chr8:9229139-9229140	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs146414164	chr8:9229151-9229152	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs73523028	chr8:9229167-9229168	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs182456628	chr8:9229173-9229174	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs559434662	chr8:9229181-9229182	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs572728980	chr8:9229190-9229191	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs544645031	chr8:9229242-9229243	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs372221499	chr8:9229248-9229249	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs564796392	chr8:9229303-9229304	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs187779907	chr8:9229345-9229346	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs192446775	chr8:9229350-9229351	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs140616122	chr8:9229366-9229367	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs529930705	chr8:9229384-9229385	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs185640647	chr8:9229386-9229387	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs114055592	chr8:9229428-9229429	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs7823709	chr8:9229429-9229430	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs371389030	chr8:9229445-9229446	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs551810481	chr8:9229501-9229502	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs61749514	chr8:9229522-9229523	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs537766443	chr8:9229523-9229524	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs61749509	chr8:9229527-9229528	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs557495491	chr8:9229531-9229532	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs191959805	chr8:9229538-9229539	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs536880345	chr8:9229552-9229553	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs13259446	chr8:9229579-9229580	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs61746367	chr8:9229592-9229593	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs61746366	chr8:9229593-9229594	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs558152264	chr8:9229594-9229595	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs557621939	chr8:9229600-9229601	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs544083968	chr8:9229603-9229604	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs6993320	chr8:9229620-9229621	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs369893893	chr8:9229630-9229631	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs61745160	chr8:9229639-9229640	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs61743959	chr8:9229643-9229644	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs572710471	chr8:9229669-9229670	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs528601088	chr8:9229671-9229672	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs898797	chr8:9229689-9229690	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs28550312	chr8:9229694-9229695	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs150057560	chr8:9229700-9229701	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:137)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9226200-9244400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:9226600-9237400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:9230400-9230600	Bivalent Enhancer	Left Ventricle	heart
4	chr8:9232800-9233600	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr8:9235400-9235800	Enhancers	Primary hematopoietic stem cells	blood
6	chr8:9235400-9236000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr8:9235400-9236000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr8:9235400-9236400	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr8:9235400-9236800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:9235800-9236000	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr8:9237200-9237400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr8:9237200-9237800	Enhancers	H9 Cell Line	embryonic stem cell
13	chr8:9237200-9237800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr8:9237200-9238200	Enhancers	H1 Cell Line	embryonic stem cell
15	chr8:9237400-9237800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:9237400-9237800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:9237400-9237800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr8:9237400-9238000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr8:9237400-9238000	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr8:9237400-9238200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr8:9237400-9238400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr8:9237400-9238600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr8:9237600-9238200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr8:9237800-9244000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr8:9237800-9244000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr8:9238000-9238200	Enhancers	K562	blood
27	chr8:9238000-9238400	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr8:9238000-9241000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr8:9238200-9240800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr8:9238200-9240800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr8:9238200-9241000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr8:9238400-9239800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr8:9238400-9247600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr8:9238600-9244000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr8:9240000-9240400	Enhancers	Colon Smooth Muscle	Colon
36	chr8:9240400-9240800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr8:9240400-9240800	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr8:9240400-9241000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr8:9240600-9241200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr8:9240800-9241400	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr8:9240800-9241600	Enhancers	H1 Cell Line	embryonic stem cell
42	chr8:9240800-9244000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr8:9241000-9241400	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr8:9241000-9241400	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr8:9241000-9241600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr8:9241200-9244000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr8:9241400-9244000	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr8:9241400-9244400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr8:9241600-9244000	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr8:9241600-9244400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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