Variant report

Variant	esv2759360
Chromosome Location	chr5:100507726-100760722
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:100663876..100666574-chr5:100667338..100670081,2	K562	blood:
2	chr11:45378931..45379643-chr5:100700753..100701279,2	MCF-7	breast:
3	chr5:100633218..100635358-chr5:100640732..100642365,2	K562	blood:
4	chr5:100726516..100727169-chr5:101014073..101014596,2	MCF-7	breast:
5	chr5:100663876..100666574-chr5:100667338..100670081,2	K562	blood:
6	chr5:100726013..100726646-chr5:100925875..100926725,2	MCF-7	breast:
7	chr5:100633218..100635358-chr5:100640732..100642365,2	K562	blood:
8	chr5:99959582..99960217-chr5:100683267..100683815,2	MCF-7	breast:
9	chr5:99814495..99815041-chr5:100726099..100726630,2	MCF-7	breast:
10	chr5:100532253..100534040-chr5:100535262..100538054,2	K562	blood:
11	chr5:100589934..100591509-chr5:100627853..100629653,2	MCF-7	breast:
12	chr5:99814517..99815454-chr5:100725734..100726727,3	MCF-7	breast:
13	chr5:100532253..100534040-chr5:100535262..100538054,2	K562	blood:
14	chr5:100589934..100591509-chr5:100627853..100629653,2	MCF-7	breast:
15	chr5:100563285..100565946-chr5:100579247..100581269,2	K562	blood:
16	chr5:100563285..100565946-chr5:100579247..100581269,2	K562	blood:
17	chr5:99983058..99983589-chr5:100699944..100700904,2	MCF-7	breast:

No data

Extended variants
information (count: 3738 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:3738 , 50 per page) page: 1 2 3 4 5 6 7 ... 75

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560254461	chr5:100512216-100512217	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs190597653	chr5:100512223-100512224	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs182031078	chr5:100512238-100512239	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs550285185	chr5:100512242-100512243	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs112519730	chr5:100512249-100512250	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs569851330	chr5:100512253-100512254	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs35139815	chr5:100512259-100512260	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs536885566	chr5:100512272-100512273	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs116545791	chr5:100512286-100512287	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs150126715	chr5:100512287-100512288	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs546944311	chr5:100512337-100512338	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs2203152	chr5:100512338-100512339	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs73171383	chr5:100512365-100512366	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs115267711	chr5:100512368-100512369	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs536784371	chr5:100512417-100512418	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs555042027	chr5:100512432-100512433	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs573608318	chr5:100512491-100512492	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs541031580	chr5:100512515-100512516	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs530750670	chr5:100512517-100512518	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs559052908	chr5:100512532-100512533	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs577893237	chr5:100512533-100512534	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs544954443	chr5:100512535-100512536	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs574836496	chr5:100512544-100512545	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs563511930	chr5:100512548-100512549	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs530717965	chr5:100512581-100512582	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs542364620	chr5:100512624-100512625	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs79763313	chr5:100512652-100512653	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs566758497	chr5:100512676-100512677	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs529326594	chr5:100512682-100512683	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs138887920	chr5:100512696-100512697	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs565906865	chr5:100512698-100512699	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs540152995	chr5:100512727-100512728	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs551643158	chr5:100512728-100512729	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs114764722	chr5:100512730-100512731	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs537251202	chr5:100512731-100512732	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs149393425	chr5:100512735-100512736	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs185683728	chr5:100512760-100512761	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs190540849	chr5:100512761-100512762	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs115363248	chr5:100512816-100512817	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs577552137	chr5:100512829-100512830	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs546107783	chr5:100512871-100512872	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs181079814	chr5:100512881-100512882	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs557292107	chr5:100512904-100512905	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs140414261	chr5:100512905-100512906	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs570726132	chr5:100512919-100512920	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs145801255	chr5:100512948-100512949	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs113630109	chr5:100512955-100512956	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs542849790	chr5:100512959-100512960	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs560884568	chr5:100512986-100512987	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs59709531	chr5:100512989-100512990	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:88)

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
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Melanoma	20688739	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:230 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100512200-100513400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:100512600-100512800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:100514200-100515000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr5:100514800-100515600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr5:100515600-100516000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr5:100523400-100523600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:100535000-100535400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr5:100540400-100541600	Enhancers	Dnd41	blood
9	chr5:100542200-100542600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:100542200-100542800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:100542800-100543800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:100543600-100548800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr5:100543800-100545600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:100544000-100545000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
15	chr5:100545200-100546200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:100548600-100548800	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr5:100548600-100548800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:100548600-100550000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr5:100548800-100549000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr5:100548800-100549000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr5:100548800-100549400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:100548800-100549600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr5:100548800-100549600	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr5:100548800-100549600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr5:100548800-100549800	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr5:100548800-100550000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr5:100548800-100550200	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr5:100549000-100549800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr5:100549600-100550000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr5:100549600-100552800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr5:100549800-100552800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr5:100550000-100552400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr5:100550200-100552800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr5:100552400-100553400	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr5:100552800-100553200	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr5:100552800-100553400	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr5:100552800-100553600	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr5:100564200-100565200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:100565200-100566800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:100566400-100566800	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr5:100566400-100566800	Enhancers	H9 Cell Line	embryonic stem cell
42	chr5:100566800-100567600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:100591800-100594200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:100594200-100594600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr5:100594600-100594800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:100596000-100596400	Enhancers	A549	lung
47	chr5:100596400-100596800	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr5:100596400-100596800	Flanking Active TSS	A549	lung
49	chr5:100596400-100597000	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr5:100596400-100598000	Enhancers	Fetal Intestine Large	intestine

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