Variant report

Variant	esv3496094
Chromosome Location	chr5:90623590-90624350
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:90622849..90631493-chr5:90673648..90681743,16	K562	blood:
2	chr5:90622698..90624734-chr5:90648243..90650213,2	K562	blood:
3	chr5:90620286..90631493-chr5:90673961..90680952,22	K562	blood:
4	chr5:90604449..90606524-chr5:90624029..90625529,2	K562	blood:
5	chr5:90620993..90625952-chr5:90626297..90629321,4	K562	blood:
6	chr5:90622949..90625056-chr5:90677857..90679858,2	MCF-7	breast:
7	chr5:90623090..90625952-chr5:90626730..90629321,3	K562	blood:

Variant related genes	Relation type
ENSG00000113369	chromatin interactions

Extended variants
information (count: 37 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375491793	chr5:90623594-90623595	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs116473805	chr5:90623694-90623695	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs575490214	chr5:90623743-90623744	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs538174658	chr5:90623747-90623748	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs150856449	chr5:90623775-90623776	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs367886753	chr5:90623776-90623777	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs73183239	chr5:90623790-90623791	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs540226586	chr5:90623795-90623796	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs572364911	chr5:90623798-90623799	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs139286789	chr5:90623842-90623843	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs573439684	chr5:90623872-90623873	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs542309789	chr5:90623938-90623939	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs562768011	chr5:90623974-90623975	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs531805593	chr5:90624067-90624068	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs371548095	chr5:90624081-90624082	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs561903405	chr5:90624088-90624089	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs536293124	chr5:90624089-90624090	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs551533146	chr5:90624106-90624107	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs36004066	chr5:90624118-90624119	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs186525903	chr5:90624120-90624121	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs113776069	chr5:90624125-90624126	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs10073893	chr5:90624146-90624147	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs182130435	chr5:90624147-90624148	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs536773176	chr5:90624172-90624173	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs527616385	chr5:90624174-90624175	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs186563763	chr5:90624188-90624189	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs375369821	chr5:90624224-90624225	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs550283775	chr5:90624245-90624246	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs570128381	chr5:90624254-90624255	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs538059535	chr5:90624263-90624264	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs557621020	chr5:90624266-90624267	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs577875540	chr5:90624274-90624275	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs533834265	chr5:90624276-90624277	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs553774432	chr5:90624280-90624281	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs573278501	chr5:90624282-90624283	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs10074012	chr5:90624283-90624284	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs369638513	chr5:90624338-90624339	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

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	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	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
Esophageal adenocarcinoma	18519675	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
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19592390	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90613800-90624400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:90619000-90629200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:90620400-90627600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:90621000-90624600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:90621200-90623800	Weak transcription	A549	lung
6	chr5:90621200-90624600	Weak transcription	Colon Smooth Muscle	Colon
7	chr5:90621200-90625000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr5:90621800-90627600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:90621800-90634600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr5:90623000-90624400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:90623200-90627800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr5:90623800-90624600	Enhancers	A549	lung

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