Variant report

Variant	nsv1022343
Chromosome Location	chr8:3553701-3578650
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	chr8:3563710-3563937	HepG2	liver:	n/a	chr8:3563786-3563797
2	CEBPB	chr8:3559495-3559575	K562	blood:	n/a	chr8:3559532-3559543
3	CEBPB	chr8:3564711-3564741	HepG2	liver:	n/a	n/a
4	CEBPB	chr8:3558869-3559067	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr8:3555121-3555162	LNCaP	prostate:	n/a	n/a
6	CTCF	chr8:3555020-3555170	HL-60	blood:	n/a	chr8:3555119-3555137 chr8:3555114-3555135
7	CTCF	chr8:3555060-3555210	HMEC	breast:	n/a	chr8:3555119-3555137 chr8:3555114-3555135
8	CTCF	chr8:3555060-3555210	SAEC	small airway:	n/a	chr8:3555119-3555137 chr8:3555114-3555135
9	CTCF	chr8:3554900-3555050	HMEC	breast:	n/a	n/a
10	E2F4	chr8:3554967-3555316	MCF10A-Er-Src	breast:	n/a	chr8:3555163-3555172 chr8:3555160-3555171 chr8:3555162-3555172 chr8:3555160-3555171 chr8:3555161-3555172 chr8:3555160-3555171 chr8:3555164-3555171
11	E2F6	chr8:3573266-3573625	H1-hESC	embryonic stem cell:	n/a	n/a
12	FOS	chr8:3555025-3555238	MCF10A-Er-Src	breast:	n/a	n/a
13	GABPA	chr8:3567126-3567248	HepG2	liver:	n/a	n/a
14	JUND	chr8:3555150-3555195	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAFF	chr8:3554449-3554811	HepG2	liver:	n/a	chr8:3554623-3554641
16	MAFF	chr8:3554112-3554768	K562	blood:	n/a	chr8:3554142-3554160 chr8:3554623-3554641
17	MAFF	chr8:3554058-3554247	HepG2	liver:	n/a	chr8:3554142-3554160
18	MAFK	chr8:3554479-3554707	Hela-S3	cervix:	n/a	chr8:3554634-3554649 chr8:3554619-3554639 chr8:3554637-3554651
19	MAFK	chr8:3554450-3554813	IMR90	lung:	n/a	chr8:3554634-3554649 chr8:3554619-3554639 chr8:3554637-3554651
20	MAFK	chr8:3553998-3554816	HepG2	liver:	n/a	chr8:3554634-3554649 chr8:3554619-3554639 chr8:3554637-3554651
21	MAFK	chr8:3554473-3554797	K562	blood:	n/a	chr8:3554634-3554649 chr8:3554619-3554639 chr8:3554637-3554651
22	MAFK	chr8:3566991-3567197	HepG2	liver:	n/a	n/a
23	MAFK	chr8:3553979-3554803	HepG2	liver:	n/a	chr8:3554634-3554649 chr8:3554619-3554639 chr8:3554637-3554651
24	MAFK	chr8:3566987-3567157	HepG2	liver:	n/a	n/a
25	MAFK	chr8:3554592-3554739	H1-hESC	embryonic stem cell:	n/a	chr8:3554634-3554649 chr8:3554619-3554639 chr8:3554637-3554651
26	NFYA	chr8:3577101-3577325	K562	blood:	n/a	n/a
27	POLR2A	chr8:3576753-3576873	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr8:3567361-3567449	GM12878	blood:	n/a	n/a
29	POLR2A	chr8:3561870-3562237	H1-neurons	neurons:	n/a	n/a
30	POLR2A	chr8:3561011-3561112	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr8:3578373-3578498	Gliobla	brain:	n/a	n/a
32	POLR2A	chr8:3553527-3553965	H1-neurons	neurons:	n/a	n/a
33	POLR2A	chr8:3577389-3577463	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr8:3575895-3575962	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr8:3575755-3575955	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr8:3575974-3576078	GM12878	blood:	n/a	n/a
37	POLR2A	chr8:3555841-3556346	H1-neurons	neurons:	n/a	n/a
38	POLR2A	chr8:3561840-3562272	H1-neurons	neurons:	n/a	n/a
39	REST	chr8:3553420-3553877	H1-neurons	neurons:	n/a	n/a
40	STAT3	chr8:3555331-3555648	MCF10A-Er-Src	breast:	n/a	n/a
41	STAT3	chr8:3562625-3562760	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
CSMD1	TF binding region
RNA5SP251	TF binding region

Extended variants
information (count: 1208 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:1208 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13253574	chr8:3553701-3553702	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs144579389	chr8:3553733-3553734	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs531814180	chr8:3553738-3553739	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs13264352	chr8:3553750-3553751	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs562291335	chr8:3553761-3553762	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs529645533	chr8:3553776-3553777	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs74663292	chr8:3553798-3553799	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs566727733	chr8:3553801-3553802	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs184739315	chr8:3553805-3553806	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs552530729	chr8:3553827-3553828	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs570646120	chr8:3553829-3553830	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs139680117	chr8:3553834-3553835	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs556689536	chr8:3553840-3553841	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs568463221	chr8:3553841-3553842	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs535798339	chr8:3553862-3553863	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs145204547	chr8:3553902-3553903	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs572670674	chr8:3553920-3553921	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs546065738	chr8:3553921-3553922	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs558062653	chr8:3553934-3553935	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs576227520	chr8:3553959-3553960	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs562563836	chr8:3554012-3554013	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs529767118	chr8:3554016-3554017	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs541784103	chr8:3554021-3554022	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs189647172	chr8:3554027-3554028	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs548222748	chr8:3554048-3554049	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs567634697	chr8:3554051-3554052	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs552492208	chr8:3554055-3554056	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs77828026	chr8:3554057-3554058	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs531484057	chr8:3554069-3554070	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs147490578	chr8:3554070-3554071	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs572290632	chr8:3554082-3554083	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs568504718	chr8:3554088-3554089	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs113488300	chr8:3554103-3554104	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs535597926	chr8:3554108-3554109	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs2624112	chr8:3554110-3554111	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs565919151	chr8:3554117-3554118	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs6992262	chr8:3554130-3554131	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs116725026	chr8:3554131-3554132	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs576337672	chr8:3554141-3554142	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs537214675	chr8:3554148-3554149	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs555708633	chr8:3554157-3554158	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs574208410	chr8:3554158-3554159	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs541546597	chr8:3554160-3554161	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs374786232	chr8:3554162-3554163	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs114211671	chr8:3554173-3554174	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs545815912	chr8:3554178-3554179	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs550306049	chr8:3554184-3554185	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs181579888	chr8:3554191-3554192	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs531651062	chr8:3554201-3554202	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs142834225	chr8:3554227-3554228	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:123)

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
Ovarian cancer	22355333	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
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cancer	20164919	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3563200-3569400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:3564400-3565800	Enhancers	Fetal Muscle Leg	muscle
3	chr8:3565800-3566200	Weak transcription	Fetal Muscle Leg	muscle
4	chr8:3566200-3567000	Enhancers	Fetal Muscle Leg	muscle
5	chr8:3569800-3570000	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
6	chr8:3575800-3576800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr8:3576000-3576600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:3576000-3576600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:3576000-3577400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr8:3576200-3576600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr8:3576200-3576600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr8:3576200-3576600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr8:3576200-3577000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr8:3576400-3578400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr8:3577400-3577800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:3577400-3578200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr8:3578400-3585600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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