Variant report

Variant	esv2763494
Chromosome Location	chr5:118959946-118961621
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	MAX	chr5:118960755-118960777	NB4	blood:	n/a	chr5:118960767-118960777
2	MAZ	chr5:118960036-118960119	HepG2	liver:	n/a	n/a
3	POLR2A	chr5:118959762-118959980	Gliobla	brain:	n/a	n/a

Variant related genes	Relation type
FAM170A	TF binding region

Extended variants
information (count: 50 )
Associated
traits (count: 70 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548178763	chr5:118960810-118960811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs2019687	chr5:118960819-118960820	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs530409649	chr5:118960829-118960830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79526102	chr5:118960859-118960860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs67519910	chr5:118960872-118960873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147996173	chr5:118960874-118960875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs71621394	chr5:118960875-118960876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374900568	chr5:118960878-118960879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs201228011	chr5:118960879-118960880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552695642	chr5:118960898-118960899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116757355	chr5:118960908-118960909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535371296	chr5:118960923-118960924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554945411	chr5:118960933-118960934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574813488	chr5:118960956-118960957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs369333624	chr5:118960989-118960990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138881115	chr5:118961019-118961020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs141454179	chr5:118961024-118961025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561767738	chr5:118961029-118961030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146923585	chr5:118961044-118961045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529322541	chr5:118961068-118961069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546030272	chr5:118961075-118961076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs77183249	chr5:118961096-118961097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2561511	chr5:118961103-118961104	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs542141768	chr5:118961112-118961113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs71585228	chr5:118961116-118961117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147974908	chr5:118961118-118961119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs71585229	chr5:118961119-118961120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs71585230	chr5:118961122-118961123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs201140477	chr5:118961125-118961126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562848523	chr5:118961141-118961142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs141647573	chr5:118961195-118961196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs2561512	chr5:118961209-118961210	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs551614243	chr5:118961262-118961263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532901954	chr5:118961303-118961304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs189172264	chr5:118961350-118961351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs2561513	chr5:118961374-118961375	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs193051468	chr5:118961375-118961376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548881518	chr5:118961385-118961386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs150533095	chr5:118961387-118961388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549129723	chr5:118961439-118961440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs201031634	chr5:118961445-118961446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537447721	chr5:118961449-118961450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs2404827	chr5:118961450-118961451	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs184606200	chr5:118961451-118961452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539970853	chr5:118961469-118961470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs2243768	chr5:118961533-118961534	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs539263456	chr5:118961536-118961537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558606146	chr5:118961548-118961549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs2243773	chr5:118961577-118961578	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs11959779	chr5:118961621-118961622	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118960800-118962600	Enhancers	Monocytes-CD14+_RO01746	blood
2	chr5:118960800-118962800	Enhancers	Primary monocytes fromperipheralblood	blood

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