Variant report

Variant	esv3322317
Chromosome Location	chr5:99387099-99387676
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	BHLHE40	chr5:99387457-99387678	HepG2	liver:	n/a	n/a
2	CEBPB	chr5:99386887-99387195	HepG2	liver:	n/a	n/a
3	HEY1	chr5:99387476-99387689	HepG2	liver:	n/a	n/a
4	RCOR1	chr5:99387660-99387678	HepG2	liver:	n/a	n/a
5	RCOR1	chr5:99387170-99387275	K562	blood:	n/a	n/a
6	SIX5	chr5:99387458-99387707	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000271480	TF binding region
ENSG00000270350	TF binding region
ENSG00000270388	TF binding region
MTND5P10	TF binding region
ENSG00000270906	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543334148	chr5:99387102-99387103	Inactive region	TF binding region	4 gene(s)	Overlapped CNVs	n/a
2	rs142882699	chr5:99387130-99387131	Inactive region	TF binding region	4 gene(s)	Overlapped CNVs	n/a
3	rs78360256	chr5:99387136-99387137	Inactive region	TF binding region	4 gene(s)	Overlapped CNVs	n/a
4	rs370055271	chr5:99387137-99387138	Inactive region	TF binding region	4 gene(s)	Overlapped CNVs	n/a
5	rs146240638	chr5:99387152-99387153	Inactive region	TF binding region	4 gene(s)	Overlapped CNVs	n/a
6	rs77163261	chr5:99387197-99387198	Inactive region	TF binding region	4 gene(s)	Overlapped CNVs	n/a
7	rs530948692	chr5:99387208-99387209	Inactive region	TF binding region	4 gene(s)	Overlapped CNVs	n/a
8	rs549453995	chr5:99387209-99387210	Inactive region	TF binding region	4 gene(s)	Overlapped CNVs	n/a
9	rs74362419	chr5:99387214-99387215	Inactive region	TF binding region	4 gene(s)	Overlapped CNVs	n/a
10	rs567549150	chr5:99387217-99387218	Inactive region	TF binding region	4 gene(s)	Overlapped CNVs	n/a
11	rs558476958	chr5:99387259-99387260	Inactive region	TF binding region	4 gene(s)	Overlapped CNVs	n/a
12	rs74950618	chr5:99387274-99387275	Inactive region	TF binding region	4 gene(s)	Overlapped CNVs	n/a
13	rs544484926	chr5:99387470-99387471	Inactive region	TF binding region	4 gene(s)	Overlapped CNVs	n/a
14	rs563580075	chr5:99387472-99387473	Inactive region	TF binding region	4 gene(s)	Overlapped CNVs	n/a
15	rs530912296	chr5:99387500-99387501	Inactive region	TF binding region	4 gene(s)	Overlapped CNVs	n/a
16	rs189272755	chr5:99387506-99387507	Inactive region	TF binding region	4 gene(s)	Overlapped CNVs	n/a
17	rs567388511	chr5:99387539-99387540	Inactive region	TF binding region	4 gene(s)	Overlapped CNVs	n/a
18	rs112817006	chr5:99387565-99387566	Inactive region	TF binding region	4 gene(s)	Overlapped CNVs	n/a
19	rs145873570	chr5:99387566-99387567	Inactive region	TF binding region	4 gene(s)	Overlapped CNVs	n/a
20	rs78560763	chr5:99387598-99387599	Inactive region	TF binding region	4 gene(s)	Overlapped CNVs	n/a
21	rs571618519	chr5:99387615-99387616	Inactive region	TF binding region	4 gene(s)	Overlapped CNVs	n/a
22	rs113803899	chr5:99387618-99387619	Inactive region	TF binding region	4 gene(s)	Overlapped CNVs	n/a
23	rs145626560	chr5:99387633-99387634	Inactive region	TF binding region	5 gene(s)	Overlapped CNVs	n/a
24	rs557633800	chr5:99387643-99387644	Inactive region	TF binding region	5 gene(s)	Overlapped CNVs	n/a
25	rs568791918	chr5:99387645-99387646	Inactive region	TF binding region	5 gene(s)	Overlapped CNVs	n/a
26	rs536208478	chr5:99387649-99387650	Inactive region	TF binding region	5 gene(s)	Overlapped CNVs	n/a
27	rs17164419	chr5:99387658-99387659	Inactive region	TF binding region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	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
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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