Variant report

Variant	esv3323030
Chromosome Location	chr5:49924220-49926768
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	CTCF	chr5:49926200-49926215	GM20000	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000213956	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377201724	chr5:49925432-49925433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571529344	chr5:49925443-49925444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148299916	chr5:49925446-49925447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536911155	chr5:49925451-49925452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556757808	chr5:49925452-49925453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573525089	chr5:49925531-49925532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6892149	chr5:49925547-49925548	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs367833945	chr5:49925881-49925882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147147807	chr5:49925895-49925896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1972980	chr5:49925909-49925910	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs114009757	chr5:49925912-49925913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190720775	chr5:49925916-49925917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565877630	chr5:49925958-49925959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140282922	chr5:49925959-49925960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571126186	chr5:49926000-49926001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113380794	chr5:49926024-49926025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182337703	chr5:49926026-49926027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567211868	chr5:49926035-49926036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6864285	chr5:49926064-49926065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532716102	chr5:49926071-49926072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111283730	chr5:49926110-49926111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534774025	chr5:49926137-49926138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557878264	chr5:49926162-49926163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185089778	chr5:49926163-49926164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs578096952	chr5:49926176-49926177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200097596	chr5:49926183-49926184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543829180	chr5:49926199-49926200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6864477	chr5:49926200-49926201	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs574340061	chr5:49926201-49926202	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs148877419	chr5:49926249-49926250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190734089	chr5:49926250-49926251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6868550	chr5:49926293-49926294	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs57629334	chr5:49926362-49926363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142594750	chr5:49926390-49926391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183327754	chr5:49926418-49926419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530461462	chr5:49926438-49926439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188261581	chr5:49926488-49926489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541728858	chr5:49926586-49926587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529897066	chr5:49926659-49926660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs193180613	chr5:49926683-49926684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	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
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49925400-49925600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
2	chr5:49925800-49927400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr5:49926400-49934200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr5:49926600-49934200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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