Variant report

Variant	nsv889903
Chromosome Location	chr8:3560760-3575929
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	chr8:3564711-3564741	HepG2	liver:	n/a	n/a
3	E2F6	chr8:3573266-3573625	H1-hESC	embryonic stem cell:	n/a	n/a
4	GABPA	chr8:3567126-3567248	HepG2	liver:	n/a	n/a
5	MAFK	chr8:3566991-3567197	HepG2	liver:	n/a	n/a
6	MAFK	chr8:3566987-3567157	HepG2	liver:	n/a	n/a
7	POLR2A	chr8:3561011-3561112	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr8:3575895-3575962	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr8:3567361-3567449	GM12878	blood:	n/a	n/a
10	POLR2A	chr8:3575755-3575955	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr8:3561870-3562237	H1-neurons	neurons:	n/a	n/a
12	POLR2A	chr8:3561840-3562272	H1-neurons	neurons:	n/a	n/a
13	STAT3	chr8:3562625-3562760	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
CSMD1	TF binding region

Extended variants
information (count: 726 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:726 , 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	rs552416784	chr8:3563200-3563201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570831819	chr8:3563208-3563209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548945441	chr8:3563209-3563210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78817732	chr8:3563214-3563215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186160416	chr8:3563219-3563220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191590065	chr8:3563224-3563225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79235630	chr8:3563225-3563226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554371665	chr8:3563234-3563235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs17326642	chr8:3563251-3563252	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs117887864	chr8:3563272-3563273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs13267542	chr8:3563279-3563280	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs577191100	chr8:3563285-3563286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs180808284	chr8:3563290-3563291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs116948164	chr8:3563297-3563298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12544198	chr8:3563320-3563321	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs376728043	chr8:3563321-3563322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560395355	chr8:3563324-3563325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527657050	chr8:3563337-3563338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552130832	chr8:3563338-3563339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370878850	chr8:3563343-3563344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564173864	chr8:3563380-3563381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62474754	chr8:3563390-3563391	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs543199047	chr8:3563396-3563397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73658214	chr8:3563397-3563398	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs568594592	chr8:3563412-3563413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535681286	chr8:3563422-3563423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs13268152	chr8:3563448-3563449	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs566468623	chr8:3563451-3563452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533905443	chr8:3563466-3563467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558573989	chr8:3563485-3563486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs151266336	chr8:3563488-3563489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534255426	chr8:3563491-3563492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373911676	chr8:3563493-3563494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140464784	chr8:3563494-3563495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374671859	chr8:3563497-3563498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs17067066	chr8:3563509-3563510	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs574538552	chr8:3563521-3563522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74318533	chr8:3563526-3563527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371597425	chr8:3563544-3563545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150400664	chr8:3563547-3563548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545932437	chr8:3563549-3563550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564137496	chr8:3563554-3563555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs75227465	chr8:3563555-3563556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs17326663	chr8:3563558-3563559	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs117494954	chr8:3563559-3563560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529464974	chr8:3563561-3563562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372214659	chr8:3563572-3563573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547657330	chr8:3563579-3563580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs80081705	chr8:3563583-3563584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185187564	chr8:3563593-3563594	Weak transcription	n/a	n/a	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:6 , 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

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