Variant report

Variant	nsv818365
Chromosome Location	chr5:100552450-100635105
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	chr5:100589934..100591509-chr5:100627853..100629653,2	MCF-7	breast:
3	chr5:100563285..100565946-chr5:100579247..100581269,2	K562	blood:
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: 1067 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1067 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7726058	chr5:100552450-100552451	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs536506190	chr5:100552456-100552457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561808328	chr5:100552463-100552464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77009832	chr5:100552473-100552474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185903744	chr5:100552486-100552487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189667284	chr5:100552609-100552610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576351110	chr5:100552617-100552618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547765836	chr5:100552628-100552629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372674808	chr5:100552631-100552632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551202603	chr5:100552632-100552633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570983402	chr5:100552634-100552635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538056356	chr5:100552636-100552637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139744126	chr5:100552660-100552661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556760464	chr5:100552724-100552725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568403609	chr5:100552742-100552743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535778647	chr5:100552773-100552774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543823297	chr5:100552826-100552827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565405917	chr5:100552840-100552841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs200949553	chr5:100552881-100552882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553724627	chr5:100553029-100553030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543972574	chr5:100553039-100553040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149604193	chr5:100553047-100553048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577411122	chr5:100553048-100553049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546240808	chr5:100553165-100553166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557976212	chr5:100553167-100553168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181455291	chr5:100553177-100553178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186037506	chr5:100553206-100553207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541684430	chr5:100553220-100553221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs115127034	chr5:100553289-100553290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561954718	chr5:100553298-100553299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529182171	chr5:100553440-100553441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190905512	chr5:100553457-100553458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs183295932	chr5:100553480-100553481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs186338307	chr5:100553495-100553496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551409243	chr5:100553586-100553587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113759085	chr5:100564203-100564204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539225600	chr5:100564250-100564251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557622103	chr5:100564311-100564312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs10477679	chr5:100564341-100564342	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs180738868	chr5:100564358-100564359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs373135548	chr5:100564383-100564384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs184518169	chr5:100564403-100564404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs62384553	chr5:100564478-100564479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573159673	chr5:100564531-100564532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs140638370	chr5:100564544-100564545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565224972	chr5:100564546-100564547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs11956395	chr5:100564548-100564549	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs77096423	chr5:100564550-100564551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190203534	chr5:100564643-100564644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs375386713	chr5:100564690-100564691	Enhancers	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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100549600-100552800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr5:100549800-100552800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr5:100550200-100552800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr5:100552400-100553400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr5:100552800-100553200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr5:100552800-100553400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr5:100552800-100553600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr5:100564200-100565200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:100565200-100566800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:100566400-100566800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr5:100566400-100566800	Enhancers	H9 Cell Line	embryonic stem cell
12	chr5:100566800-100567600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:100591800-100594200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:100594200-100594600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:100594600-100594800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:100596000-100596400	Enhancers	A549	lung
17	chr5:100596400-100596800	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr5:100596400-100596800	Flanking Active TSS	A549	lung
19	chr5:100596400-100597000	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr5:100596400-100598000	Enhancers	Fetal Intestine Large	intestine
21	chr5:100596800-100597200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
22	chr5:100596800-100597200	Enhancers	A549	lung
23	chr5:100597200-100598000	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr5:100597600-100600200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:100597800-100598000	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr5:100598000-100598800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr5:100599200-100600000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr5:100600000-100600200	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr5:100600200-100600600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:100600200-100601200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr5:100600600-100601600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:100601200-100601800	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr5:100601600-100605400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:100607200-100607600	Enhancers	Dnd41	blood
35	chr5:100613400-100615000	Enhancers	HMEC	breast
36	chr5:100613800-100614000	Active TSS	A549	lung
37	chr5:100613800-100614200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr5:100613800-100614400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:100613800-100614800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr5:100614000-100614400	Flanking Active TSS	A549	lung
41	chr5:100614400-100615000	Enhancers	A549	lung
42	chr5:100614800-100615400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:100620600-100621200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr5:100624800-100625200	Enhancers	Hela-S3	cervix
45	chr5:100627400-100640200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:100628000-100629000	Enhancers	Dnd41	blood

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