Variant report

Variant	nsv609885
Chromosome Location	chr8:4637653-4643872
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	MYC	chr8:4639951-4640056	MCF10A-Er-Src	breast:	n/a	n/a
2	STAT3	chr8:4639708-4640284	MCF10A-Er-Src	breast:	n/a	n/a
3	TEAD4	chr8:4638549-4638953	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
PAICSP4	TF binding region

Extended variants
information (count: 304 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:304 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4875380	chr8:4637653-4637654	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs115794529	chr8:4637659-4637660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544981804	chr8:4637665-4637666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4875117	chr8:4637667-4637668	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs557083693	chr8:4637674-4637675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549601226	chr8:4637684-4637685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552649543	chr8:4637726-4637727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566473213	chr8:4637738-4637739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142804866	chr8:4637750-4637751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187080770	chr8:4637764-4637765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191910480	chr8:4637768-4637769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535146286	chr8:4637776-4637777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538663660	chr8:4637789-4637790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs17071319	chr8:4637797-4637798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150338392	chr8:4637802-4637803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534624903	chr8:4637808-4637809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs80238679	chr8:4637810-4637811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs80180207	chr8:4637817-4637818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373716361	chr8:4637822-4637823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs117244594	chr8:4637823-4637824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576712017	chr8:4637840-4637841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138041777	chr8:4637854-4637855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183389117	chr8:4637882-4637883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531037621	chr8:4637898-4637899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376458696	chr8:4637903-4637904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149528478	chr8:4637923-4637924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185652381	chr8:4637924-4637925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4875381	chr8:4637927-4637928	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs577887797	chr8:4637932-4637933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369575772	chr8:4637933-4637934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142711514	chr8:4637937-4637938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs33942979	chr8:4637938-4637939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144171110	chr8:4637957-4637958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201373046	chr8:4637960-4637961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550640197	chr8:4637962-4637963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568833798	chr8:4637975-4637976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139804009	chr8:4637994-4637995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4875382	chr8:4638014-4638015	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs4875383	chr8:4638038-4638039	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs113966184	chr8:4638041-4638042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146212003	chr8:4638045-4638046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75391275	chr8:4638047-4638048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78513637	chr8:4638058-4638059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529451910	chr8:4638078-4638079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531860179	chr8:4638085-4638086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11305573	chr8:4638098-4638099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570666122	chr8:4638105-4638106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11305572	chr8:4638122-4638123	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537701571	chr8:4638142-4638143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139148932	chr8:4638166-4638167	Enhancers 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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4631600-4638800	Weak transcription	Brain Angular Gyrus	brain
2	chr8:4636600-4639000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:4636800-4638000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:4637000-4637800	Enhancers	Rectal Smooth Muscle	rectum
5	chr8:4637000-4638000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:4637000-4638000	Enhancers	Brain Cingulate Gyrus	brain
7	chr8:4637000-4638600	Enhancers	Fetal Kidney	kidney
8	chr8:4637000-4639000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr8:4637200-4637800	Enhancers	Fetal Brain Male	brain
10	chr8:4637200-4638000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr8:4637200-4638000	Enhancers	Colon Smooth Muscle	Colon
12	chr8:4637200-4639000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:4637400-4638000	Enhancers	Fetal Stomach	stomach
14	chr8:4637600-4638800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:4638000-4638400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:4638000-4639000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:4638000-4639200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:4638000-4639600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr8:4638400-4639000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:4638800-4639400	Enhancers	Brain Angular Gyrus	brain
21	chr8:4639000-4640800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr8:4639000-4641000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr8:4639200-4639400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr8:4639400-4640600	Weak transcription	Brain Angular Gyrus	brain
25	chr8:4639600-4639800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:4639600-4639800	Enhancers	Brain Cingulate Gyrus	brain
27	chr8:4640600-4640800	Enhancers	Brain Angular Gyrus	brain
28	chr8:4640800-4641400	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr8:4641000-4641200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:4641000-4641400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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