Variant report

Variant	esv3418687
Chromosome Location	chr5:99382396-99382619
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	BCL11A	chr5:99381820-99382422	GM12878	blood:	n/a	n/a
2	EP300	chr5:99382091-99382419	GM12878	blood:	n/a	n/a
3	FOSL2	chr5:99381795-99382511	HepG2	liver:	n/a	chr5:99381907-99381915
4	FOXA1	chr5:99381904-99382475	HepG2	liver:	n/a	n/a
5	IRF4	chr5:99381908-99382464	GM12878	blood:	n/a	n/a
6	PAX5	chr5:99381908-99382465	GM12878	blood:	n/a	n/a
7	POU2F2	chr5:99381733-99382469	GM12878	blood:	n/a	n/a
8	SIX5	chr5:99382068-99382466	GM12878	blood:	n/a	n/a
9	SP1	chr5:99382083-99382448	GM12878	blood:	n/a	n/a
10	SP1	chr5:99382068-99382418	GM12878	blood:	n/a	n/a
11	ZBTB33	chr5:99382070-99382453	GM12878	blood:	n/a	n/a
12	ZBTB33	chr5:99382081-99382454	K562	blood:	n/a	n/a
13	ZBTB33	chr5:99382030-99382407	K562	blood:	n/a	n/a
14	ZBTB33	chr5:99382074-99382477	GM12878	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM174A-4	chr5:99382154-99382674	NONHSAT102986

Variant related genes	Relation type
ENSG00000264839	TF binding region
ENSG00000270232	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112828018	chr5:99382408-99382409	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
2	rs553104859	chr5:99382414-99382415	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs79168116	chr5:99382422-99382423	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs75898777	chr5:99382428-99382429	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs577926629	chr5:99382442-99382443	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs182396216	chr5:99382443-99382444	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
7	rs557230297	chr5:99382449-99382450	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
8	rs79202007	chr5:99382455-99382456	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs75218894	chr5:99382458-99382459	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
10	rs575224652	chr5:99382460-99382461	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs78409167	chr5:99382462-99382463	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs74432938	chr5:99382464-99382465	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs542222967	chr5:99382465-99382466	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs535982929	chr5:99382540-99382541	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs185722707	chr5:99382543-99382544	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs75408911	chr5:99382546-99382547	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs78069955	chr5:99382557-99382558	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs572801002	chr5:99382558-99382559	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs540434548	chr5:99382559-99382560	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs77041689	chr5:99382563-99382564	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs78115036	chr5:99382578-99382579	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs74355863	chr5:99382608-99382609	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs79682177	chr5:99382611-99382612	Inactive region	lncRNA	n/a	Overlapped CNVs	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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