Variant report

Variant	esv3514690
Chromosome Location	chr5:93569039-93573268
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 153 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:153 , 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	rs184456959	chr5:93569049-93569050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs148944682	chr5:93569097-93569098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561646630	chr5:93569113-93569114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189389321	chr5:93569140-93569141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs180733021	chr5:93569263-93569264	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144298216	chr5:93569267-93569268	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553445614	chr5:93569296-93569297	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573227610	chr5:93569338-93569339	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542209477	chr5:93569355-93569356	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375406412	chr5:93569446-93569447	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562021103	chr5:93569524-93569525	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576046376	chr5:93569540-93569541	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544919125	chr5:93569548-93569549	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564699354	chr5:93569692-93569693	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs547428580	chr5:93569843-93569844	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs533555510	chr5:93569854-93569855	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs150480194	chr5:93569886-93569887	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs138878799	chr5:93569901-93569902	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs540439074	chr5:93569932-93569933	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs367642832	chr5:93569967-93569968	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs560218213	chr5:93569969-93569970	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs528937637	chr5:93570001-93570002	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs187412286	chr5:93570007-93570008	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs568506190	chr5:93570008-93570009	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs531526657	chr5:93570020-93570021	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs551244325	chr5:93570024-93570025	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs560522886	chr5:93570025-93570026	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs571171596	chr5:93570028-93570029	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs189308954	chr5:93570062-93570063	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs553638419	chr5:93570063-93570064	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs566965267	chr5:93570070-93570071	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs181730283	chr5:93570071-93570072	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs555842985	chr5:93570086-93570087	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs575688045	chr5:93570115-93570116	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs186082418	chr5:93570117-93570118	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs544957719	chr5:93570118-93570119	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs558504311	chr5:93570119-93570120	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs578167846	chr5:93570120-93570121	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs369069254	chr5:93570121-93570122	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs569986967	chr5:93570122-93570123	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs540827199	chr5:93570249-93570250	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs560442256	chr5:93570301-93570302	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190367571	chr5:93570315-93570316	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs371875941	chr5:93570366-93570367	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375770243	chr5:93570482-93570483	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs542291453	chr5:93570521-93570522	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562176804	chr5:93570571-93570572	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531219698	chr5:93570575-93570576	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550931134	chr5:93570616-93570617	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs571521230	chr5:93570656-93570657	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Basal cell lymphoma	17053054	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
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93553200-93576600	Weak transcription	Hela-S3	cervix
2	chr5:93555600-93578800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:93559200-93570400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr5:93560800-93570400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:93565000-93570400	Weak transcription	Adipose Nuclei	Adipose
6	chr5:93568000-93617200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:93568400-93569600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:93568600-93569200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:93568600-93569400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:93569200-93572400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:93569600-93570600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:93570200-93570600	Enhancers	Liver	Liver
13	chr5:93570200-93571400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
14	chr5:93570200-93572000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
15	chr5:93570400-93570800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
16	chr5:93570400-93570800	Enhancers	Adipose Nuclei	Adipose
17	chr5:93570400-93572200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
18	chr5:93570400-93572200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
19	chr5:93570600-93570800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:93570600-93570800	Flanking Active TSS	Liver	Liver
21	chr5:93570800-93571000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:93570800-93571000	Enhancers	Liver	Liver
23	chr5:93570800-93571600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr5:93571000-93571200	Flanking Active TSS	Liver	Liver
25	chr5:93571000-93571600	ZNF genes & repeats	Brain Germinal Matrix	brain
26	chr5:93571000-93572200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:93571400-93573800	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr5:93571600-93572200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
29	chr5:93571600-93572200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
30	chr5:93571600-93575200	Weak transcription	Brain Germinal Matrix	brain
31	chr5:93572000-93572200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
32	chr5:93572000-93576400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr5:93572200-93573600	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr5:93572200-93574800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:93572200-93577000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr5:93572200-93577000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr5:93572200-93577800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr5:93572200-93578000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr5:93572400-93572600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:93572400-93585400	Weak transcription	Psoas Muscle	Psoas
41	chr5:93572600-93572800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:93572800-93586400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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