Variant report

Variant	nsv889949
Chromosome Location	chr8:4246903-4302217
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	chr8:4299608-4299681	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr8:4300811-4301138	A549	lung:	n/a	chr8:4300971-4300982
3	CEBPB	chr8:4300804-4301145	HepG2	liver:	n/a	chr8:4300971-4300982
4	CEBPB	chr8:4300789-4301140	IMR90	lung:	n/a	chr8:4300971-4300982
5	CEBPB	chr8:4300849-4301101	K562	blood:	n/a	chr8:4300971-4300982
6	CEBPB	chr8:4250895-4251106	HepG2	liver:	n/a	chr8:4250917-4250928
7	CTCF	chr8:4278070-4278412	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr8:4257280-4257430	A549	lung:	n/a	n/a
9	CTCF	chr8:4257480-4257630	SAEC	small airway:	n/a	chr8:4257523-4257544 chr8:4257533-4257541
10	CTCF	chr8:4253927-4253975	GM20000	blood:	n/a	n/a
11	CTCF	chr8:4257460-4257610	A549	lung:	n/a	chr8:4257523-4257544 chr8:4257533-4257541
12	CTCF	chr8:4257420-4257570	Caco-2	colon:	n/a	chr8:4257523-4257544 chr8:4257533-4257541
13	CTCF	chr8:4257300-4257450	NHEK	skin:	n/a	n/a
14	CTCF	chr8:4257480-4257630	WERI-Rb-1	eye:	n/a	chr8:4257523-4257544 chr8:4257533-4257541
15	CTCF	chr8:4257440-4257590	WERI-Rb-1	eye:	n/a	chr8:4257523-4257544 chr8:4257533-4257541
16	CTCF	chr8:4257460-4257610	HRE	kidney:	n/a	chr8:4257523-4257544 chr8:4257533-4257541
17	CTCF	chr8:4257467-4257635	Lung_OC	lung:	n/a	chr8:4257523-4257544 chr8:4257533-4257541
18	CTCF	chr8:4290960-4291110	HepG2	liver:	n/a	chr8:4291040-4291058
19	CTCF	chr8:4278209-4278325	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr8:4257440-4257590	HMEC	breast:	n/a	chr8:4257523-4257544 chr8:4257533-4257541
21	CTCF	chr8:4257460-4257610	HepG2	liver:	n/a	chr8:4257523-4257544 chr8:4257533-4257541
22	CTCF	chr8:4257388-4257676	HepG2	liver:	n/a	chr8:4257523-4257544 chr8:4257533-4257541
23	CTCF	chr8:4257441-4257652	Pancreas_OC	pancreas:	n/a	chr8:4257523-4257544 chr8:4257533-4257541
24	CTCF	chr8:4257444-4257629	LNCaP	prostate:	n/a	chr8:4257523-4257544 chr8:4257533-4257541
25	CTCF	chr8:4257477-4257618	Kidney_OC	kidney:	n/a	chr8:4257523-4257544 chr8:4257533-4257541
26	CTCF	chr8:4257485-4257570	MCF-7	breast:	n/a	chr8:4257523-4257544 chr8:4257533-4257541
27	CTCF	chr8:4257426-4257627	T-47D	breast:	n/a	chr8:4257523-4257544 chr8:4257533-4257541
28	CTCF	chr8:4257472-4257613	Medullo	brain:	n/a	chr8:4257523-4257544 chr8:4257533-4257541
29	CTCF	chr8:4257454-4257612	MCF-7	breast:	n/a	chr8:4257523-4257544 chr8:4257533-4257541
30	CTCF	chr8:4257464-4257602	HepG2	liver:	n/a	chr8:4257523-4257544 chr8:4257533-4257541
31	CTCF	chr8:4257479-4257619	Hela-S3	cervix:	n/a	chr8:4257523-4257544 chr8:4257533-4257541
32	CTCF	chr8:4294452-4294500	GM13976	blood:	n/a	n/a
33	CTCF	chr8:4257423-4257594	H1-hESC	embryonic stem cell:	n/a	chr8:4257523-4257544 chr8:4257533-4257541
34	CTCF	chr8:4257399-4257609	HepG2	liver:	n/a	chr8:4257523-4257544 chr8:4257533-4257541
35	CTCF	chr8:4257493-4257566	Gliobla	brain:	n/a	chr8:4257523-4257544 chr8:4257533-4257541
36	CTCF	chr8:4257440-4257590	Caco-2	colon:	n/a	chr8:4257523-4257544 chr8:4257533-4257541
37	CTCF	chr8:4290517-4290526	GM13976	blood:	n/a	n/a
38	CTCF	chr8:4257440-4257590	HRE	kidney:	n/a	chr8:4257523-4257544 chr8:4257533-4257541
39	CTCF	chr8:4257480-4257630	HL-60	blood:	n/a	chr8:4257523-4257544 chr8:4257533-4257541
40	CTCF	chr8:4257420-4257570	SK-N-SH_RA	brain:	n/a	chr8:4257523-4257544 chr8:4257533-4257541
41	CTCF	chr8:4257480-4257630	RPTEC	kidney:	n/a	chr8:4257523-4257544 chr8:4257533-4257541
42	CTCF	chr8:4257560-4257710	HepG2	liver:	n/a	n/a
43	CTCF	chr8:4257420-4257570	MCF-7	breast:	n/a	chr8:4257523-4257544 chr8:4257533-4257541
44	CTCF	chr8:4257475-4257607	LNCaP	prostate:	n/a	chr8:4257523-4257544 chr8:4257533-4257541
45	CTCF	chr8:4257440-4257590	MCF-7	breast:	n/a	chr8:4257523-4257544 chr8:4257533-4257541
46	CTCF	chr8:4257440-4257590	HEK293	kidney:	n/a	chr8:4257523-4257544 chr8:4257533-4257541
47	CTCF	chr8:4257440-4257590	RPTEC	kidney:	n/a	chr8:4257523-4257544 chr8:4257533-4257541
48	CTCF	chr8:4290980-4291130	Caco-2	colon:	n/a	chr8:4291040-4291058
49	CTCF	chr8:4257440-4257590	HAc	cerebellar:	n/a	chr8:4257523-4257544 chr8:4257533-4257541
50	CTCF	chr8:4257440-4257590	NHEK	skin:	n/a	chr8:4257523-4257544 chr8:4257533-4257541

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:4092133..4092721-chr8:4257157..4257997,2	MCF-7	breast:
2	chr8:3141838..3142362-chr8:4257194..4257921,2	MCF-7	breast:

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

Variant related genes	Relation type
RN7SL872P	TF binding region
ENSG00000183117	chromatin interactions

Extended variants
information (count: 2660 )
Associated
traits (count: 127 )

Variant overlapped rSNPs/rCNVs (count:2660 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185063526	chr8:4248047-4248048	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs71534398	chr8:4248050-4248051	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs373536669	chr8:4248051-4248052	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs561793086	chr8:4248060-4248061	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs7815803	chr8:4248061-4248062	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs7831514	chr8:4248062-4248063	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs11989046	chr8:4248067-4248068	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs192725298	chr8:4248078-4248079	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs7831529	chr8:4248084-4248085	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs537951633	chr8:4248091-4248092	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs149065667	chr8:4248122-4248123	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs555528905	chr8:4248158-4248159	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs573809880	chr8:4248164-4248165	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs544130278	chr8:4248181-4248182	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs143739528	chr8:4248196-4248197	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs553093183	chr8:4248197-4248198	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs577926362	chr8:4248198-4248199	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs116343438	chr8:4248935-4248936	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs536674240	chr8:4248944-4248945	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs548275943	chr8:4248946-4248947	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs189795334	chr8:4248949-4248950	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs183489994	chr8:4248954-4248955	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs67198077	chr8:4248963-4248964	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs550456884	chr8:4248964-4248965	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs577752514	chr8:4248995-4248996	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs538435012	chr8:4248997-4248998	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs188751352	chr8:4249010-4249011	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs193193352	chr8:4249065-4249066	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs386721315	chr8:4249074-4249075	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs76706818	chr8:4249075-4249076	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs147437853	chr8:4249078-4249079	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs183252486	chr8:4249079-4249080	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs540529326	chr8:4249085-4249086	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs546324470	chr8:4249099-4249100	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs139435869	chr8:4249103-4249104	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs532752408	chr8:4249120-4249121	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs551542891	chr8:4249132-4249133	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs370950947	chr8:4249159-4249160	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs188270385	chr8:4249174-4249175	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs12542641	chr8:4249185-4249186	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs114043181	chr8:4249188-4249189	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs560373648	chr8:4249189-4249190	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs534930403	chr8:4249201-4249202	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs546620453	chr8:4249211-4249212	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs571206708	chr8:4249212-4249213	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs529544440	chr8:4249219-4249220	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs538475983	chr8:4249229-4249230	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs556723272	chr8:4249232-4249233	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs367656585	chr8:4249241-4249242	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs575011100	chr8:4249243-4249244	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:127)

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
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4252000-4253000	Enhancers	Dnd41	blood
2	chr8:4252200-4252600	Enhancers	Thymus	Thymus
3	chr8:4252400-4252600	Enhancers	Pancreas	Pancrea
4	chr8:4257400-4258000	Enhancers	Fetal Brain Female	brain
5	chr8:4257600-4260400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr8:4257800-4258200	Enhancers	Fetal Brain Male	brain
7	chr8:4258000-4260000	Weak transcription	Fetal Brain Female	brain
8	chr8:4258200-4265000	Weak transcription	Fetal Brain Male	brain
9	chr8:4259600-4259800	Enhancers	Fetal Heart	heart
10	chr8:4259800-4260200	Enhancers	Brain Germinal Matrix	brain
11	chr8:4259800-4260400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:4260000-4260200	Enhancers	Fetal Brain Female	brain
13	chr8:4260200-4263200	Weak transcription	Brain Germinal Matrix	brain
14	chr8:4260400-4263200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr8:4260400-4264200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:4262600-4262800	Enhancers	Brain Angular Gyrus	brain
17	chr8:4263000-4264400	Enhancers	Fetal Heart	heart
18	chr8:4263200-4263800	Enhancers	Brain Hippocampus Middle	brain
19	chr8:4263200-4264800	Enhancers	Fetal Muscle Leg	muscle
20	chr8:4263200-4266000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr8:4263200-4266000	Enhancers	Brain Germinal Matrix	brain
22	chr8:4263400-4263600	Enhancers	Brain Angular Gyrus	brain
23	chr8:4263800-4264200	Weak transcription	Brain Hippocampus Middle	brain
24	chr8:4264200-4264600	Enhancers	Brain Hippocampus Middle	brain
25	chr8:4264200-4264800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr8:4265000-4265800	Enhancers	Fetal Brain Male	brain
27	chr8:4265800-4274600	Weak transcription	Fetal Brain Male	brain
28	chr8:4269400-4270000	Enhancers	Gastric	stomach
29	chr8:4272800-4273000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:4278200-4279000	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr8:4284600-4285000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr8:4285000-4285400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr8:4290000-4291000	Enhancers	Fetal Muscle Leg	muscle
34	chr8:4291000-4291800	Weak transcription	Fetal Muscle Leg	muscle
35	chr8:4292200-4292400	Enhancers	Fetal Muscle Leg	muscle
36	chr8:4293000-4293400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:4295200-4296000	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr8:4295400-4296000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr8:4300000-4300400	Enhancers	Fetal Brain Male	brain
40	chr8:4300400-4301400	Weak transcription	Fetal Brain Male	brain
41	chr8:4301400-4301600	Enhancers	Fetal Brain Male	brain

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