Variant report

Variant	nsv890648
Chromosome Location	chr8:20783432-20810194
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	ATF1	chr8:20809628-20809937	K562	blood:	n/a	n/a
2	CCNT2	chr8:20809452-20809864	K562	blood:	n/a	chr8:20809683-20809703
3	CEBPB	chr8:20795561-20795603	HepG2	liver:	n/a	n/a
4	CEBPB	chr8:20809083-20809266	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPD	chr8:20809504-20809904	K562	blood:	n/a	n/a
6	CEBPD	chr8:20809552-20809922	K562	blood:	n/a	n/a
7	CTCF	chr8:20790325-20790394	Hela-S3	cervix:	n/a	chr8:20790367-20790388 chr8:20790365-20790383
8	CTCF	chr8:20790280-20790430	WERI-Rb-1	eye:	n/a	chr8:20790367-20790388 chr8:20790365-20790383
9	CTCF	chr8:20792086-20792137	Kidney_OC	kidney:	n/a	n/a
10	CTCF	chr8:20790337-20790401	HepG2	liver:	n/a	chr8:20790367-20790388 chr8:20790365-20790383
11	CTCF	chr8:20790235-20790463	K562	blood:	n/a	chr8:20790367-20790388 chr8:20790365-20790383
12	CTCF	chr8:20790260-20790410	HEK293	kidney:	n/a	chr8:20790367-20790388 chr8:20790365-20790383
13	CTCF	chr8:20792228-20792283	K562	blood:	n/a	n/a
14	CTCF	chr8:20790300-20790450	HRE	kidney:	n/a	chr8:20790367-20790388 chr8:20790365-20790383
15	CTCF	chr8:20790308-20790430	LNCaP	prostate:	n/a	chr8:20790367-20790388 chr8:20790365-20790383
16	CTCF	chr8:20809940-20810090	HL-60	blood:	n/a	n/a
17	CTCF	chr8:20790320-20790470	NB4	blood:	n/a	chr8:20790367-20790388 chr8:20790365-20790383
18	CTCF	chr8:20790332-20790438	K562	blood:	n/a	chr8:20790367-20790388 chr8:20790365-20790383
19	CTCF	chr8:20790280-20790430	K562	blood:	n/a	chr8:20790367-20790388 chr8:20790365-20790383
20	CTCF	chr8:20790332-20790386	LNCaP	prostate:	n/a	chr8:20790365-20790383
21	CTCF	chr8:20803360-20803510	GM12865	blood:	n/a	n/a
22	CTCF	chr8:20790160-20790310	A549	lung:	n/a	n/a
23	CUX1	chr8:20809610-20809810	K562	blood:	n/a	n/a
24	EP300	chr8:20809458-20809920	K562	blood:	n/a	n/a
25	EP300	chr8:20808751-20809086	K562	blood:	n/a	n/a
26	FOS	chr8:20804979-20805158	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr8:20789982-20790218	MCF10A-Er-Src	breast:	n/a	chr8:20790118-20790126
28	FOS	chr8:20791190-20791207	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr8:20789932-20790258	MCF10A-Er-Src	breast:	n/a	chr8:20790118-20790126
30	FOS	chr8:20789456-20789701	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr8:20804931-20805126	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr8:20786675-20786742	MCF10A-Er-Src	breast:	n/a	chr8:20786682-20786692 chr8:20786681-20786692 chr8:20786682-20786691 chr8:20786684-20786691
33	FOS	chr8:20791091-20791207	MCF10A-Er-Src	breast:	n/a	chr8:20791147-20791157 chr8:20791147-20791156
34	FOS	chr8:20789476-20789671	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr8:20794221-20794339	MCF10A-Er-Src	breast:	n/a	chr8:20794254-20794263 chr8:20794255-20794264
36	FOXA1	chr8:20798513-20798814	HepG2	liver:	n/a	chr8:20798708-20798723
37	FOXA1	chr8:20798511-20798829	HepG2	liver:	n/a	chr8:20798708-20798723
38	FOXA1	chr8:20798556-20798843	HepG2	liver:	n/a	chr8:20798708-20798723
39	FOXA1	chr8:20798428-20798796	HepG2	liver:	n/a	chr8:20798708-20798723
40	FOXA2	chr8:20798577-20798828	HepG2	liver:	n/a	n/a
41	GATA1	chr8:20789779-20790492	K562	blood:	n/a	chr8:20790411-20790423 chr8:20790119-20790128
42	GATA1	chr8:20808555-20809966	K562	blood:	n/a	chr8:20809658-20809665 chr8:20809771-20809787 chr8:20809703-20809724 chr8:20809773-20809785 chr8:20809774-20809783
43	GATA2	chr8:20809498-20809872	K562	blood:	n/a	chr8:20809658-20809665 chr8:20809771-20809787 chr8:20809703-20809724 chr8:20809773-20809785 chr8:20809774-20809783
44	GATA2	chr8:20809455-20809862	K562	blood:	n/a	chr8:20809658-20809665 chr8:20809771-20809787 chr8:20809703-20809724 chr8:20809773-20809785 chr8:20809774-20809783
45	GATA2	chr8:20808808-20809168	SH-SY5Y	brain:	n/a	n/a
46	GATA3	chr8:20790265-20790443	SH-SY5Y	brain:	n/a	chr8:20790411-20790423
47	GATA3	chr8:20790096-20790502	MCF-7	breast:	n/a	chr8:20790411-20790423 chr8:20790119-20790128
48	GATA3	chr8:20808974-20809158	SH-SY5Y	brain:	n/a	chr8:20808991-20808999
49	IRF1	chr8:20809551-20809874	K562	blood:	n/a	n/a
50	JUND	chr8:20804878-20805172	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:20781724..20783659-chr8:20784151..20785678,2	K562	blood:
2	chr8:20781724..20783659-chr8:20784151..20785678,2	K562	blood:
3	chr8:20806761..20808497-chr8:20810222..20812992,2	K562	blood:
4	chr8:20737626..20740045-chr8:20787296..20789914,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP6V1B2-4	chr8:20807598-20807686	ENSG00000254260
2	lnc-LZTS1-2	chr8:20810159-20810427	XLOC_007018
3	lnc-LZTS1-2	chr8:20810156-20810427	ENSG00000254092
4	lnc-ATP6V1B2-5	chr8:20810025-20810427	NONHSAT125407
5	lnc-LZTS1-4	chr8:20791946-20792348	NONHSAT125404
6	lnc-ATP6V1B2-4	chr8:20798939-20799011	ENSG00000254260
7	lnc-LZTS1-2	chr8:20810159-20810427	XLOC_007018
8	lnc-ATP6V1B2-4	chr8:20800453-20800763	ENSG00000254260
9	lnc-ATP6V1B2-4	chr8:20806210-20806304	ENSG00000254260

Variant related genes	Relation type
ENSG00000254260	TF binding region
TMEM97P2	TF binding region
ENSG00000254026	TF binding region
ENSG00000253147	TF binding region
ENSG00000254026	chromatin interactions
ENSG00000253147	chromatin interactions
HIF1AN	miRNA target sites

Extended variants
information (count: 742 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:742 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7836543	chr8:20783432-20783433	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs13268299	chr8:20783447-20783448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532996642	chr8:20783472-20783473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551057810	chr8:20783492-20783493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569351515	chr8:20783495-20783496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536632431	chr8:20783504-20783505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548895305	chr8:20783507-20783508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191830904	chr8:20783508-20783509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546307275	chr8:20783600-20783601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567524387	chr8:20783720-20783721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571205440	chr8:20783815-20783816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534533576	chr8:20783844-20783845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113999836	chr8:20783862-20783863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77226581	chr8:20783902-20783903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs972369	chr8:20783919-20783920	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs556831658	chr8:20783963-20783964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544134486	chr8:20783985-20783986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543013047	chr8:20783998-20783999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533342903	chr8:20784024-20784025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562240017	chr8:20784031-20784032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561437563	chr8:20784040-20784041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375557226	chr8:20784058-20784059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568712751	chr8:20784072-20784073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79710301	chr8:20784074-20784075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540471653	chr8:20784081-20784082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565520376	chr8:20784152-20784153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184118739	chr8:20784172-20784173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555058472	chr8:20784186-20784187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77698767	chr8:20784234-20784235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563023041	chr8:20784237-20784238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573286469	chr8:20784246-20784247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149244724	chr8:20784279-20784280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186685667	chr8:20784290-20784291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567458448	chr8:20784293-20784294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79183766	chr8:20784305-20784306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534287307	chr8:20784338-20784339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546577489	chr8:20784344-20784345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146942222	chr8:20784349-20784350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138516219	chr8:20784388-20784389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs367606792	chr8:20784390-20784391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557510188	chr8:20784445-20784446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575772733	chr8:20784468-20784469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536653291	chr8:20784487-20784488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558723433	chr8:20784512-20784513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189949160	chr8:20784535-20784536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545198465	chr8:20784545-20784546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540961992	chr8:20784571-20784572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182609458	chr8:20784576-20784577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144100577	chr8:20784595-20784596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544372758	chr8:20784607-20784608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Prostate cancer	21965145	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
Colorectal cancer	16272173	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
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Epilepsy	22083797	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17603634	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cancer	18840272	CNVD
Breast cancer	19602461	CNVD
Osteosarcoma	19286668	CNVD
Prostate cancer	19242612	CNVD
Prostate cancer	19258508	CNVD
small cell lung cancer	20016488	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Gastric adenocarcinoma	19115996	CNVD
Colorectal cancer	19455253	CNVD
Melanoma	20688739	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20782400-20785400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr8:20782400-20785400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr8:20785400-20786600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr8:20785400-20786800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:20785600-20786400	Enhancers	Primary hematopoietic stem cells	blood
6	chr8:20785800-20786200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr8:20796000-20797800	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr8:20796200-20798000	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr8:20796800-20797400	Enhancers	Colonic Mucosa	Colon
10	chr8:20796800-20797400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
11	chr8:20797000-20798200	Enhancers	Fetal Thymus	thymus
12	chr8:20798000-20798600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr8:20798000-20798600	Enhancers	Right Ventricle	heart
14	chr8:20798000-20799000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr8:20798400-20798800	Enhancers	HepG2	liver
16	chr8:20798400-20799000	Enhancers	Fetal Lung	lung
17	chr8:20798400-20799200	Bivalent Enhancer	Fetal Intestine Large	intestine
18	chr8:20798600-20799000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:20798800-20799000	Enhancers	Placenta	Placenta
20	chr8:20801200-20802000	Bivalent Enhancer	Fetal Muscle Leg	muscle
21	chr8:20801200-20802400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr8:20802600-20803800	Enhancers	Fetal Brain Male	brain
23	chr8:20803800-20804200	Weak transcription	Fetal Brain Male	brain
24	chr8:20804200-20804600	Enhancers	Fetal Brain Male	brain
25	chr8:20806200-20809600	Weak transcription	Liver	Liver
26	chr8:20808400-20809400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:20808400-20809800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr8:20808400-20813000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:20808600-20809400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:20808600-20809400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr8:20808600-20810000	Enhancers	K562	blood
32	chr8:20808600-20812600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr8:20808800-20809600	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr8:20809000-20809400	Enhancers	H9 Cell Line	embryonic stem cell
35	chr8:20809000-20809400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr8:20809000-20809400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr8:20809000-20809400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr8:20809000-20809400	Enhancers	Lung	lung
39	chr8:20809000-20812400	Enhancers	Primary hematopoietic stem cells	blood
40	chr8:20809600-20809800	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr8:20809600-20813800	Strong transcription	Liver	Liver

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