Variant report

Variant	nsv441954
Chromosome Location	chr5:53689472-53694167
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:53690607-53690687	Kidney_OC	kidney:	n/a	n/a
2	EP300	chr5:53691215-53691287	K562	blood:	n/a	n/a
3	MAFK	chr5:53691937-53692005	HepG2	liver:	n/a	n/a
4	MAFK	chr5:53691889-53691968	Hela-S3	cervix:	n/a	n/a
5	NFIC	chr5:53693931-53694409	GM12878	blood:	n/a	n/a
6	POLR2A	chr5:53689524-53689712	K562	blood:	n/a	n/a
7	POLR2A	chr5:53692863-53692895	K562	blood:	n/a	n/a
8	POLR2A	chr5:53691050-53691262	K562	blood:	n/a	n/a
9	POLR2A	chr5:53691714-53692321	K562	blood:	n/a	n/a
10	POLR2A	chr5:53693495-53694407	K562	blood:	n/a	n/a
11	POLR2A	chr5:53692555-53692950	K562	blood:	n/a	n/a
12	RUNX3	chr5:53690430-53690783	GM12878	blood:	n/a	n/a
13	RUNX3	chr5:53693936-53694505	GM12878	blood:	n/a	n/a
14	STAT3	chr5:53692126-53692367	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:53686098..53687887-chr5:53688937..53691382,3	K562	blood:
2	chr5:53604135..53610802-chr5:53683563..53694160,14	K562	blood:
3	chr5:53680935..53682719-chr5:53693344..53694966,2	K562	blood:
4	chr5:53692115..53693706-chr5:53696702..53699303,2	K562	blood:
5	chr5:53605268..53607841-chr5:53691814..53694261,3	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HSPB3-1	chr5:53692827-53692964	ENSG00000249069.2
2	lnc-HSPB3-1	chr5:53691181-53691247	ENSG00000249069.2
3	lnc-HSPB3-1	chr5:53691181-53691247	ENSG00000249069.3
4	lnc-HSPB3-1	chr5:53692827-53692964	ENSG00000249069.3
5	lnc-HSPB3-1	chr5:53692827-53692964	ENSG00000249069.2

No data

Variant related genes	Relation type
RPL37P25	TF binding region
LINC01033	TF binding region
ENSG00000249069	chromatin interactions
ENSG00000185305	chromatin interactions

Extended variants
information (count: 170 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:170 , 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	rs3111650	chr5:53689474-53689475	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555710530	chr5:53689482-53689483	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs192594151	chr5:53689529-53689530	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs113365093	chr5:53689538-53689539	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs545046355	chr5:53689591-53689592	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs560029113	chr5:53689595-53689596	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs375544997	chr5:53689630-53689631	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs542840043	chr5:53689654-53689655	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs71600831	chr5:53689676-53689677	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs60823008	chr5:53689680-53689681	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs202177405	chr5:53689682-53689683	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs200496615	chr5:53689683-53689684	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs369705691	chr5:53689684-53689685	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs201419519	chr5:53689685-53689686	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs13362516	chr5:53689708-53689709	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs140897290	chr5:53689741-53689742	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs550082060	chr5:53689755-53689756	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs368579900	chr5:53689759-53689760	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs530410585	chr5:53689819-53689820	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs150172163	chr5:53689842-53689843	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs145441691	chr5:53689843-53689844	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs184021683	chr5:53689855-53689856	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs533978351	chr5:53689867-53689868	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs371200896	chr5:53689876-53689877	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs555567276	chr5:53689902-53689903	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs567492308	chr5:53689921-53689922	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs35646912	chr5:53689929-53689930	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs543724719	chr5:53689934-53689935	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs114132478	chr5:53690002-53690003	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs141135588	chr5:53690009-53690010	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs546722554	chr5:53690010-53690011	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs373023807	chr5:53690037-53690038	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs566843278	chr5:53690094-53690095	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs187215859	chr5:53690151-53690152	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs529302785	chr5:53690156-53690157	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs577654969	chr5:53690173-53690174	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs538302475	chr5:53690196-53690197	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs192290258	chr5:53690210-53690211	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs6859116	chr5:53690216-53690217	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs146944852	chr5:53690242-53690243	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs184676554	chr5:53690276-53690277	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs190492518	chr5:53690279-53690280	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs543700146	chr5:53690294-53690295	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs138060343	chr5:53690295-53690296	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs532517386	chr5:53690317-53690318	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs560012810	chr5:53690331-53690332	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs547511466	chr5:53690356-53690357	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs559712602	chr5:53690372-53690373	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs376682146	chr5:53690379-53690380	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs368262502	chr5:53690387-53690388	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	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
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
Congenital diaphragmatic hernia	21525063	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:53684600-53690400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr5:53687800-53690000	Weak transcription	K562	blood
3	chr5:53690000-53690400	Enhancers	K562	blood
4	chr5:53690400-53691200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr5:53690400-53693000	Genic enhancers	K562	blood
6	chr5:53693000-53694800	Weak transcription	K562	blood

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