Variant report

Variant	esv1800417
Chromosome Location	chr5:98345182-98346514
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:98341705..98344564-chr5:98346126..98348724,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116030348	chr5:98345196-98345197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573054455	chr5:98345351-98345352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190857206	chr5:98345470-98345471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565344335	chr5:98345615-98345616	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536293595	chr5:98345716-98345717	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532532266	chr5:98345726-98345727	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571610289	chr5:98345826-98345827	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs544572482	chr5:98345968-98345969	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs562916672	chr5:98345977-98345978	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs13360124	chr5:98346021-98346022	Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182851082	chr5:98346120-98346121	Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567567711	chr5:98346191-98346192	Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185668301	chr5:98346212-98346213	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs58541904	chr5:98346254-98346255	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539007441	chr5:98346279-98346280	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111578502	chr5:98346329-98346330	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs13436664	chr5:98346409-98346410	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571300968	chr5:98346478-98346479	Active TSS Enhancers Weak transcription	n/a	n/a	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	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98342000-98345600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:98343600-98354800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:98345000-98345600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr5:98345200-98345400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr5:98345200-98346000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr5:98345200-98347000	Enhancers	H1 Cell Line	embryonic stem cell
7	chr5:98345400-98345600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr5:98345400-98345800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:98345600-98345800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:98345600-98346000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr5:98345600-98346200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr5:98345800-98347000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:98346000-98346600	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr5:98346000-98346600	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr5:98346000-98346600	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr5:98346200-98346800	Active TSS	iPS-18 Cell Line	embryonic stem cell

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