Variant report

Variant	nsv519066
Chromosome Location	chr8:4213183-4253637
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	CEBPB	chr8:4227032-4227320	HepG2	liver:	n/a	n/a
2	CEBPB	chr8:4214721-4214989	HepG2	liver:	n/a	chr8:4214850-4214859 chr8:4214850-4214859 chr8:4214850-4214859
3	CEBPB	chr8:4242430-4242568	A549	lung:	n/a	n/a
4	CEBPB	chr8:4227126-4227302	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr8:4250895-4251106	HepG2	liver:	n/a	chr8:4250917-4250928
6	CTCF	chr8:4220100-4220250	HCPEpiC	choroid plexus:	n/a	n/a
7	CTCF	chr8:4219946-4220263	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr8:4220160-4220310	HRE	kidney:	n/a	n/a
9	CTCF	chr8:4220147-4220189	HepG2	liver:	n/a	n/a
10	CTCF	chr8:4244652-4244790	Pancreas_OC	pancreas:	n/a	chr8:4244685-4244706 chr8:4244691-4244707 chr8:4244690-4244708
11	CTCF	chr8:4220160-4220310	HCFaa	heart:	n/a	n/a
12	CTCF	chr8:4228467-4228491	GM13976	blood:	n/a	n/a
13	CTCF	chr8:4220076-4220209	Pancreas_OC	pancreas:	n/a	n/a
14	CTCF	chr8:4220120-4220270	HMF	breast:	n/a	n/a
15	CTCF	chr8:4220120-4220270	HMEC	breast:	n/a	n/a
16	CTCF	chr8:4220060-4220210	HRE	kidney:	n/a	n/a
17	CTCF	chr8:4220100-4220250	HL-60	blood:	n/a	n/a
18	E2F4	chr8:4226844-4226993	MCF10A-Er-Src	breast:	n/a	n/a
19	E2F6	chr8:4238516-4239067	H1-hESC	embryonic stem cell:	n/a	chr8:4238782-4238793 chr8:4238779-4238796 chr8:4238779-4238796
20	E2F6	chr8:4238700-4238954	H1-hESC	embryonic stem cell:	n/a	chr8:4238782-4238793 chr8:4238779-4238796 chr8:4238779-4238796
21	IRF3	chr8:4216325-4216449	GM12878	blood:	n/a	n/a
22	JUND	chr8:4238746-4238897	H1-hESC	embryonic stem cell:	n/a	n/a
23	MAFF	chr8:4215565-4215857	HepG2	liver:	n/a	n/a
24	MAFF	chr8:4253104-4253440	HepG2	liver:	n/a	chr8:4253262-4253280 chr8:4253261-4253275
25	MAFF	chr8:4236818-4237053	K562	blood:	n/a	chr8:4236963-4236981
26	MAFF	chr8:4236803-4237153	HepG2	liver:	n/a	chr8:4236963-4236981
27	MAFK	chr8:4253095-4253445	HepG2	liver:	n/a	chr8:4253258-4253278 chr8:4253285-4253296 chr8:4253261-4253275 chr8:4253260-4253276
28	MAFK	chr8:4236834-4237070	K562	blood:	n/a	n/a
29	MAFK	chr8:4253118-4253450	IMR90	lung:	n/a	chr8:4253258-4253278 chr8:4253285-4253296 chr8:4253261-4253275 chr8:4253260-4253276
30	MAFK	chr8:4236798-4237141	IMR90	lung:	n/a	n/a
31	MAFK	chr8:4215557-4215845	HepG2	liver:	n/a	n/a
32	MAFK	chr8:4215520-4215848	HepG2	liver:	n/a	n/a
33	MAFK	chr8:4236799-4237157	HepG2	liver:	n/a	n/a
34	MAFK	chr8:4236804-4237130	HepG2	liver:	n/a	n/a
35	MAFK	chr8:4253115-4253446	HepG2	liver:	n/a	chr8:4253258-4253278 chr8:4253285-4253296 chr8:4253261-4253275 chr8:4253260-4253276
36	MAX	chr8:4238698-4238996	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAX	chr8:4223695-4223982	NB4	blood:	n/a	chr8:4223873-4223883
38	MYC	chr8:4229982-4230032	K562	blood:	n/a	n/a
39	NRF1	chr8:4226012-4226023	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr8:4238053-4238090	Gliobla	brain:	n/a	n/a
41	POLR2A	chr8:4214725-4214925	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr8:4236535-4236729	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr8:4229569-4229769	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr8:4248044-4248184	GM12878	blood:	n/a	n/a
45	POLR2A	chr8:4251807-4251998	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr8:4220394-4220514	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr8:4250222-4250367	ProgFib	skin:	n/a	n/a
48	POLR2A	chr8:4253470-4253554	GM12878	blood:	n/a	n/a
49	POLR2A	chr8:4224060-4224107	GM12878	blood:	n/a	n/a
50	RAD21	chr8:4219997-4220299	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:4238976-4239026	K562	blood:	n/a
2	chr8:4238976-4239026	K562	blood:	n/a
3	chr8:4238976-4239026	Hepatocyte	liver:	n/a
4	chr8:4238976-4239026	GM12892	blood:	n/a
5	chr8:4238976-4239026	AG04450	lung:	fetal
6	chr8:4238976-4239026	NT2-D1	testis:	n/a
7	chr8:4238976-4239026	GM12878	blood:	n/a
8	chr8:4238976-4239026	MCF-7	breast:	n/a
9	chr8:4238976-4239026	AG04449	skin:	fetal
10	chr8:4238976-4239026	MCF10A-Er-Src	breast:	n/a
11	chr8:4238976-4239026	HEEpiC	esophagus:	n/a
12	chr8:4238976-4239026	HNPCEpiC	eye:	n/a
13	chr8:4238976-4239026	U87	brain:	n/a
14	chr8:4238976-4239026	NHBE	bronchial:	n/a
15	chr8:4238976-4239026	AG09319	gingival:	n/a
16	chr8:4238976-4239026	HRCEpiC	kidney:	n/a
17	chr8:4238976-4239026	PFSK-1	brain:	n/a
18	chr8:4238976-4239026	HCF	heart:	n/a
19	chr8:4238976-4239026	HEK293	kidney:	embryo
20	chr8:4238976-4239026	HCM	heart:	n/a
21	chr8:4238976-4239026	Caco-2	colon:	n/a
22	chr8:4238976-4239026	GM12891	blood:	n/a
23	chr8:4238976-4239026	HRPEpiC	eye:	n/a
24	chr8:4238976-4239026	AG10803	skin:	n/a
25	chr8:4238976-4239026	ECC-1	luminal epithelium:	n/a
26	chr8:4238976-4239026	RPTEC	kidney:	n/a
27	chr8:4238976-4239026	A549	lung:	n/a
28	chr8:4238976-4239026	SAEC	small airway:	n/a
29	chr8:4238976-4239026	AoSMC	blood vessel:	n/a
30	chr8:4238976-4239026	SK-N-SH_RA	brain:	n/a
31	chr8:4238976-4239026	HL-60	blood:	n/a
32	chr8:4238976-4239026	NH-A	brain:	n/a
33	chr8:4238976-4239026	PANC-1	pancreas:	n/a
34	chr8:4238976-4239026	Jurkat	blood:	n/a
35	chr8:4238976-4239026	BJ	skin:	n/a
36	chr8:4238976-4239026	SK-N-MC	brain:	n/a
37	chr8:4238976-4239026	NB4	blood:	n/a
38	chr8:4238976-4239026	HCPEpiC	choroid plexus:	n/a
39	chr8:4238976-4239026	BE2_C	brain:	n/a
40	chr8:4238976-4239026	HPAEpiC	pulmonary alveolar:	n/a
41	chr8:4238976-4239026	Hela-S3	cervix:	n/a
42	chr8:4238976-4239026	H1-hESC	embryonic stem cell:	embryo
43	chr8:4238976-4239026	GM19239	blood:	n/a
44	chr8:4238976-4239026	IMR90	lung:	fetal
45	chr8:4238976-4239026	HAEpiC	amniotic membrane:	n/a
46	chr8:4238976-4239026	HCT-116	colon:	n/a
47	chr8:4238976-4239026	LNCaP	prostate:	n/a
48	chr8:4238976-4239026	SKMC	muscle:	n/a
49	chr8:4238976-4239026	HUVEC	blood vessel:	n/a
50	chr8:4238976-4239026	AG09309	skin:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MCPH1-8	chr8:4250344-4250612	NONHSAT124750

Variant related genes	Relation type
RN7SL872P	TF binding region
RN7SL872P	CpG island

Extended variants
information (count: 1573 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:1573 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533022982	chr8:4213200-4213201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549570531	chr8:4213217-4213218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551220586	chr8:4213227-4213228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569326705	chr8:4213234-4213235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2406695	chr8:4213237-4213238	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs536692129	chr8:4213239-4213240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182831091	chr8:4213253-4213254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567582268	chr8:4213258-4213259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535025548	chr8:4213275-4213276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs3990909	chr8:4213293-4213294	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs138585619	chr8:4213300-4213301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539107986	chr8:4213313-4213314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187105705	chr8:4213315-4213316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76058755	chr8:4213333-4213334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570208345	chr8:4213341-4213342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561281406	chr8:4213348-4213349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73175735	chr8:4213357-4213358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552509336	chr8:4213358-4213359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189965038	chr8:4213359-4213360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138150718	chr8:4213364-4213365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533017812	chr8:4213372-4213373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565069605	chr8:4213375-4213376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551055708	chr8:4213381-4213382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142683862	chr8:4213389-4213390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530532395	chr8:4213390-4213391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541730090	chr8:4213395-4213396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566947605	chr8:4213403-4213404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182282737	chr8:4213408-4213409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547012921	chr8:4213411-4213412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571803367	chr8:4213441-4213442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538909367	chr8:4213445-4213446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376918936	chr8:4213458-4213459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143853892	chr8:4213468-4213469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148614364	chr8:4213483-4213484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375604822	chr8:4213484-4213485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188049511	chr8:4213497-4213498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371251913	chr8:4213514-4213515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554979221	chr8:4213525-4213526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375666658	chr8:4213532-4213533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142089855	chr8:4213547-4213548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575382771	chr8:4213563-4213564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559431668	chr8:4213581-4213582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35237554	chr8:4213585-4213586	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs544766835	chr8:4213592-4213593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563162075	chr8:4213628-4213629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530495265	chr8:4213631-4213632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374112386	chr8:4213647-4213648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs193020603	chr8:4213651-4213652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185295712	chr8:4213659-4213660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547945828	chr8:4213683-4213684	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
Ductal carcinoma	22052326	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
Breast cancer	21364760	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
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	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
Schizophrenia	21346763	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4213200-4216000	Weak transcription	Fetal Intestine Small	intestine
2	chr8:4215400-4216000	Enhancers	Fetal Intestine Large	intestine
3	chr8:4215800-4216200	Enhancers	Fetal Muscle Leg	muscle
4	chr8:4216000-4216600	Enhancers	Duodenum Mucosa	Duodenum
5	chr8:4216000-4217000	Weak transcription	Fetal Intestine Large	intestine
6	chr8:4216000-4217600	Enhancers	Fetal Intestine Small	intestine
7	chr8:4216200-4217200	Weak transcription	Fetal Muscle Leg	muscle
8	chr8:4216600-4217600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr8:4217000-4217600	Enhancers	Fetal Intestine Large	intestine
10	chr8:4217200-4217400	Enhancers	Fetal Muscle Leg	muscle
11	chr8:4217600-4217800	Enhancers	Duodenum Mucosa	Duodenum
12	chr8:4221400-4224800	Enhancers	Dnd41	blood
13	chr8:4223000-4223800	Enhancers	Fetal Thymus	thymus
14	chr8:4229200-4229800	Enhancers	Liver	Liver
15	chr8:4232800-4233000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:4233000-4233800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr8:4235800-4236000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:4236000-4236200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:4236200-4238800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:4238800-4239200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr8:4238800-4239200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr8:4238800-4239400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:4238800-4239400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:4238800-4239400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:4239000-4239200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:4239000-4240000	Enhancers	H1 Cell Line	embryonic stem cell
27	chr8:4240400-4240600	Enhancers	Psoas Muscle	Psoas
28	chr8:4252000-4253000	Enhancers	Dnd41	blood
29	chr8:4252200-4252600	Enhancers	Thymus	Thymus
30	chr8:4252400-4252600	Enhancers	Pancreas	Pancrea

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