Variant report

Variant	nsv981938
Chromosome Location	chr8:54444019-54447669
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	FOXA1	chr8:54447026-54447448	T-47D	breast:	n/a	n/a
2	GATA3	chr8:54447059-54447534	MCF-7	breast:	n/a	n/a
3	GATA3	chr8:54447079-54447570	T-47D	breast:	n/a	n/a
4	GATA3	chr8:54447069-54447593	MCF-7	breast:	n/a	n/a
5	GATA3	chr8:54447087-54447510	T-47D	breast:	n/a	n/a
6	IRF3	chr8:54444033-54444069	GM12878	blood:	n/a	n/a
7	STAT3	chr8:54446242-54446348	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000206144	TF binding region
ENSG00000240919	TF binding region

Extended variants
information (count: 165 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:165 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74363982	chr8:54444047-54444048	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs541586320	chr8:54444067-54444068	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs555259685	chr8:54444107-54444108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112958970	chr8:54444117-54444118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113470008	chr8:54444148-54444149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114173027	chr8:54444156-54444157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564539962	chr8:54444163-54444164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs16919268	chr8:54444169-54444170	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs191187423	chr8:54444206-54444207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76533140	chr8:54444217-54444218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529525467	chr8:54444237-54444238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11778924	chr8:54444280-54444281	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs58104526	chr8:54444320-54444321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566118804	chr8:54444336-54444337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369948077	chr8:54444337-54444338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184151185	chr8:54444412-54444413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551775174	chr8:54444427-54444428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570470804	chr8:54444428-54444429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539003173	chr8:54444456-54444457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150443509	chr8:54444494-54444495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555852387	chr8:54444528-54444529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569480055	chr8:54444537-54444538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375096934	chr8:54444538-54444539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537120682	chr8:54444543-54444544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs59189546	chr8:54444555-54444556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569380489	chr8:54444572-54444573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373981126	chr8:54444584-54444585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148442317	chr8:54444601-54444602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188506402	chr8:54444604-54444605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145008927	chr8:54444708-54444709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114104726	chr8:54444745-54444746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557764620	chr8:54444747-54444748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181057150	chr8:54444779-54444780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs13281446	chr8:54444800-54444801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184344613	chr8:54444824-54444825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568693941	chr8:54444836-54444837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75576140	chr8:54444850-54444851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141977945	chr8:54444866-54444867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529433961	chr8:54444890-54444891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555445978	chr8:54444901-54444902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146525830	chr8:54444907-54444908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377652441	chr8:54444910-54444911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11786418	chr8:54444920-54444921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559934786	chr8:54445023-54445024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146096549	chr8:54445035-54445036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs78587619	chr8:54445084-54445085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565400683	chr8:54445178-54445179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534142619	chr8:54445261-54445262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369020618	chr8:54445286-54445287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2376143	chr8:54445310-54445311	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Uveal melanoma	20484589	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54442400-54448400	Weak transcription	Esophagus	oesophagus
2	chr8:54445600-54446400	Enhancers	Cortex derived primary cultured neurospheres	brain

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