Variant report

Variant	esv3420271
Chromosome Location	chr5:98343152-98349350
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:98336536..98338225-chr5:98341064..98343650,2	K562	blood:
2	chr5:98341705..98344564-chr5:98346126..98348724,2	K562	blood:
3	chr5:98341705..98344564-chr5:98346126..98348724,2	K562	blood:

Extended variants
information (count: 218 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:218 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570033261	chr5:98343176-98343177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537577384	chr5:98343178-98343179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7710032	chr5:98343205-98343206	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs187534351	chr5:98343209-98343210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192145429	chr5:98343230-98343231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs386690391	chr5:98343241-98343242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs58634056	chr5:98343242-98343243	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs572324323	chr5:98343251-98343252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545667484	chr5:98343252-98343253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79026254	chr5:98343253-98343254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs55842563	chr5:98343257-98343258	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs57883072	chr5:98343258-98343259	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs142666917	chr5:98343264-98343265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528846947	chr5:98343270-98343271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs60270005	chr5:98343274-98343275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs60955929	chr5:98343300-98343301	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs559761507	chr5:98343313-98343314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs56393810	chr5:98343332-98343333	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs551658198	chr5:98343340-98343341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563951417	chr5:98343350-98343351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188717826	chr5:98343359-98343360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571706801	chr5:98343399-98343400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs138194563	chr5:98343401-98343402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114290866	chr5:98343469-98343470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534667042	chr5:98343520-98343521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs59602127	chr5:98343539-98343540	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs192774366	chr5:98343551-98343552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76781018	chr5:98343555-98343556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557659706	chr5:98343603-98343604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576147644	chr5:98343670-98343671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368065548	chr5:98343677-98343678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550768866	chr5:98343703-98343704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111371402	chr5:98343713-98343714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537248277	chr5:98343761-98343762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555471965	chr5:98343774-98343775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115301341	chr5:98343781-98343782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184405845	chr5:98343827-98343828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559325308	chr5:98343828-98343829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536229253	chr5:98343981-98343982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189292050	chr5:98343982-98343983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191692671	chr5:98344070-98344071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572797914	chr5:98344098-98344099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183978976	chr5:98344105-98344106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6890801	chr5:98344108-98344109	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs6890810	chr5:98344117-98344118	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs189085491	chr5:98344120-98344121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115596787	chr5:98344131-98344132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535545698	chr5:98344136-98344137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368699614	chr5:98344139-98344140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571656575	chr5:98344191-98344192	Weak transcription	n/a	n/a	Overlapped CNVs	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	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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98339800-98343600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:98340800-98343600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:98342000-98345600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:98342400-98343400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:98343200-98343400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr5:98343400-98343600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr5:98343400-98343600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:98343600-98345000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr5:98343600-98354800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:98345000-98345600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr5:98345200-98345400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr5:98345200-98346000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr5:98345200-98347000	Enhancers	H1 Cell Line	embryonic stem cell
14	chr5:98345400-98345600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr5:98345400-98345800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:98345600-98345800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:98345600-98346000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr5:98345600-98346200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr5:98345800-98347000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:98346000-98346600	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr5:98346000-98346600	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr5:98346000-98346600	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr5:98346200-98346800	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr5:98346600-98347600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr5:98346800-98347000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr5:98347000-98347400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr5:98347000-98347600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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