Variant report

Variant	esv2582955
Chromosome Location	chr5:89860131-89861642
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:89824628..89827035-chr5:89857700..89861051,3	K562	blood:
2	chr5:89854731..89856596-chr5:89856787..89860606,4	K562	blood:
3	chr5:89857832..89860192-chr5:90676540..90678768,2	K562	blood:
4	chr5:89703769..89706239-chr5:89858612..89861256,3	MCF-7	breast:
5	chr5:89856963..89860302-chr5:89865083..89868215,3	MCF-7	breast:
6	chr5:89854805..89859362-chr5:89860971..89864483,4	K562	blood:

Variant related genes	Relation type
ENSG00000164199	chromatin interactions
ENSG00000176018	chromatin interactions
ENSG00000153140	chromatin interactions
ENSG00000255647	chromatin interactions
ENSG00000113369	chromatin interactions

Extended variants
information (count: 50 )
Associated
traits (count: 84 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533904943	chr5:89860132-89860133	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs35348904	chr5:89860208-89860209	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs547149676	chr5:89860222-89860223	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs567298613	chr5:89860228-89860229	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs558229403	chr5:89860233-89860234	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs536238431	chr5:89860287-89860288	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs556544765	chr5:89860338-89860339	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs143660562	chr5:89860339-89860340	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs187807556	chr5:89860395-89860396	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs34960896	chr5:89860417-89860418	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs200720440	chr5:89860430-89860431	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs202162078	chr5:89860436-89860437	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs200346987	chr5:89860439-89860440	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs201447116	chr5:89860441-89860442	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs202185232	chr5:89860442-89860443	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs202140182	chr5:89860443-89860444	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs201506189	chr5:89860444-89860445	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs1311086	chr5:89860530-89860531	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs1312508	chr5:89860628-89860629	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs1312429	chr5:89860650-89860651	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs375866594	chr5:89860685-89860686	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs538515754	chr5:89860778-89860779	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs201884976	chr5:89860779-89860780	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs111498553	chr5:89860815-89860816	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs572116696	chr5:89860826-89860827	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs146626276	chr5:89860838-89860839	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs139119716	chr5:89860849-89860850	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs143236903	chr5:89860906-89860907	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs116898557	chr5:89860922-89860923	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs372892320	chr5:89860961-89860962	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs563299033	chr5:89860964-89860965	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs111323892	chr5:89860972-89860973	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs79256827	chr5:89860983-89860984	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs111611999	chr5:89861005-89861006	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs528657338	chr5:89861070-89861071	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs547549315	chr5:89861125-89861126	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs567365476	chr5:89861129-89861130	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs536305288	chr5:89861146-89861147	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs193147811	chr5:89861175-89861176	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs552221518	chr5:89861180-89861181	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs569515366	chr5:89861202-89861203	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs533099597	chr5:89861213-89861214	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs474800	chr5:89861312-89861313	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs558547687	chr5:89861399-89861400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs112105918	chr5:89861403-89861404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs623761	chr5:89861410-89861411	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs78096756	chr5:89861438-89861439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537159557	chr5:89861475-89861476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs12332756	chr5:89861613-89861614	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs12332758	chr5:89861639-89861640	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:84)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:89855200-89871000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:89856200-89860400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr5:89856600-89860200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:89856600-89860400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr5:89858400-89860200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:89859000-89861600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:89859200-89861000	Enhancers	H9 Cell Line	embryonic stem cell
8	chr5:89859400-89864200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:89859400-89884200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:89859600-89860200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr5:89859600-89860400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr5:89859600-89860600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr5:89859800-89860200	Enhancers	Brain Germinal Matrix	brain
14	chr5:89859800-89862000	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr5:89860200-89861200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr5:89860200-89868000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:89860400-89862600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr5:89860600-89861000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr5:89861000-89861800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr5:89861000-89862200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr5:89861200-89861800	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr5:89861600-89861800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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