Variant report

Variant	esv2753053
Chromosome Location	chr5:100543101-100636101
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:100563285..100565946-chr5:100579247..100581269,2	K562	blood:
2	chr5:100563285..100565946-chr5:100579247..100581269,2	K562	blood:
3	chr5:100589934..100591509-chr5:100627853..100629653,2	MCF-7	breast:
4	chr5:100589934..100591509-chr5:100627853..100629653,2	MCF-7	breast:
5	chr5:100633218..100635358-chr5:100640732..100642365,2	K562	blood:

Extended variants
information (count: 1465 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1465 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34417884	chr5:100543109-100543110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576434778	chr5:100543135-100543136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188511137	chr5:100543139-100543140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181285587	chr5:100543206-100543207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs3063271	chr5:100543234-100543235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35401324	chr5:100543235-100543236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35724233	chr5:100543236-100543237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78945778	chr5:100543239-100543240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574651664	chr5:100543259-100543260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541690938	chr5:100543334-100543335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560283758	chr5:100543392-100543393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114695635	chr5:100543420-100543421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534155168	chr5:100543423-100543424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1113244	chr5:100543475-100543476	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs1961626	chr5:100543501-100543502	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs147516735	chr5:100543504-100543505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550966240	chr5:100543505-100543506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538117428	chr5:100543536-100543537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563068586	chr5:100543564-100543565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575671421	chr5:100543575-100543576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542535400	chr5:100543580-100543581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530404878	chr5:100543582-100543583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548541573	chr5:100543595-100543596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188436792	chr5:100543606-100543607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139400080	chr5:100543618-100543619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551868021	chr5:100543662-100543663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570181718	chr5:100543668-100543669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1588627	chr5:100543705-100543706	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs556106011	chr5:100543706-100543707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568302059	chr5:100543745-100543746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34098478	chr5:100543778-100543779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35483501	chr5:100543791-100543792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77396313	chr5:100543796-100543797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs55946427	chr5:100543806-100543807	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs76017040	chr5:100543812-100543813	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545956281	chr5:100543820-100543821	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559173526	chr5:100543849-100543850	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577534808	chr5:100543891-100543892	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544885235	chr5:100544026-100544027	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182022010	chr5:100544042-100544043	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150071084	chr5:100544048-100544049	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529995298	chr5:100544058-100544059	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2137294	chr5:100544103-100544104	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs560323616	chr5:100544152-100544153	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs207466274	chr5:100544168-100544169	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572952763	chr5:100544191-100544192	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187577495	chr5:100544256-100544257	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552278168	chr5:100544342-100544343	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570280225	chr5:100544347-100544348	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531414439	chr5:100544353-100544354	ZNF genes & repeats 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
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100542800-100543800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:100543600-100548800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr5:100543800-100545600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:100544000-100545000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:100545200-100546200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:100548600-100548800	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr5:100548600-100548800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:100548600-100550000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr5:100548800-100549000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr5:100548800-100549000	Enhancers	H1 Cell Line	embryonic stem cell
11	chr5:100548800-100549400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:100548800-100549600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr5:100548800-100549600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr5:100548800-100549600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr5:100548800-100549800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr5:100548800-100550000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr5:100548800-100550200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr5:100549000-100549800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr5:100549600-100550000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr5:100549600-100552800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr5:100549800-100552800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr5:100550000-100552400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr5:100550200-100552800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr5:100552400-100553400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr5:100552800-100553200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr5:100552800-100553400	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr5:100552800-100553600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr5:100564200-100565200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:100565200-100566800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:100566400-100566800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr5:100566400-100566800	Enhancers	H9 Cell Line	embryonic stem cell
32	chr5:100566800-100567600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:100591800-100594200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:100594200-100594600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:100594600-100594800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:100596000-100596400	Enhancers	A549	lung
37	chr5:100596400-100596800	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr5:100596400-100596800	Flanking Active TSS	A549	lung
39	chr5:100596400-100597000	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr5:100596400-100598000	Enhancers	Fetal Intestine Large	intestine
41	chr5:100596800-100597200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
42	chr5:100596800-100597200	Enhancers	A549	lung
43	chr5:100597200-100598000	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr5:100597600-100600200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr5:100597800-100598000	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr5:100598000-100598800	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr5:100599200-100600000	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr5:100600000-100600200	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr5:100600200-100600600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr5:100600200-100601200	Weak transcription	Rectal Mucosa Donor 31	rectum

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