Variant report

Variant	nsv889895
Chromosome Location	chr8:3143310-3164019
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	chr8:3159558-3159842	A549	lung:	n/a	n/a
2	CTCF	chr8:3156177-3156199	GM10266	blood:	n/a	n/a
3	CTCF	chr8:3148628-3148676	Medullo	brain:	n/a	n/a
4	FOXA2	chr8:3151774-3152279	A549	lung:	n/a	n/a
5	IRF1	chr8:3154939-3154963	K562	blood:	n/a	n/a
6	MYC	chr8:3154898-3155035	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr8:3153112-3153519	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr8:3157315-3157507	MCF10A-Er-Src	breast:	n/a	n/a
9	ZNF143	chr8:3152168-3152205	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
CSMD1	TF binding region

Extended variants
information (count: 131 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529618150	chr8:3162628-3162629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541806515	chr8:3162660-3162661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560232282	chr8:3162665-3162666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527367269	chr8:3162680-3162681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181034365	chr8:3162693-3162694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186318008	chr8:3162697-3162698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189542340	chr8:3162700-3162701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1503276	chr8:3162736-3162737	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs78140917	chr8:3162737-3162738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563085683	chr8:3162748-3162749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549770396	chr8:3162755-3162756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375606157	chr8:3162768-3162769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568343602	chr8:3162774-3162775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143908711	chr8:3162775-3162776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181437818	chr8:3162777-3162778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565768643	chr8:3162781-3162782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113581306	chr8:3162803-3162804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149223313	chr8:3162822-3162823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368054402	chr8:3162823-3162824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539524044	chr8:3162832-3162833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557851471	chr8:3162892-3162893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576195376	chr8:3162902-3162903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537661302	chr8:3162928-3162929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555731330	chr8:3163016-3163017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533612070	chr8:3163022-3163023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368727290	chr8:3163031-3163032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541575427	chr8:3163035-3163036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371686920	chr8:3163057-3163058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546767412	chr8:3163062-3163063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574267636	chr8:3163072-3163073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73502000	chr8:3163075-3163076	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs560170845	chr8:3163089-3163090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74304347	chr8:3163156-3163157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112775940	chr8:3163171-3163172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545882800	chr8:3163175-3163176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146863575	chr8:3163180-3163181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs367986593	chr8:3163190-3163191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186118185	chr8:3163199-3163200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34222614	chr8:3163214-3163215	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs190796022	chr8:3163226-3163227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529168755	chr8:3163228-3163229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569998433	chr8:3163229-3163230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377052841	chr8:3163237-3163238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565707279	chr8:3163238-3163239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114775627	chr8:3163248-3163249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182984063	chr8:3163255-3163256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559392151	chr8:3163264-3163265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186674125	chr8:3163265-3163266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574181543	chr8:3163272-3163273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111726138	chr8:3163275-3163276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:125)

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
Cancer	20164919	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
Schizophrenia	19805367	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3162600-3164600	Weak transcription	Brain Anterior Caudate	brain
2	chr8:3163600-3166000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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