Variant report

Variant	esv13171
Chromosome Location	chr5:100551009-100649385
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	chr5:100633218..100635358-chr5:100640732..100642365,2	K562	blood:
5	chr5:100633218..100635358-chr5:100640732..100642365,2	K562	blood:
6	chr5:100589934..100591509-chr5:100627853..100629653,2	MCF-7	breast:

Extended variants
information (count: 1480 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1480 , 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	rs142299039	chr5:100551031-100551032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183101598	chr5:100551056-100551057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs59087512	chr5:100551071-100551072	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs577449826	chr5:100551092-100551093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552307829	chr5:100551142-100551143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149586402	chr5:100551143-100551144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373105230	chr5:100551157-100551158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145747103	chr5:100551169-100551170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188111137	chr5:100551205-100551206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574755067	chr5:100551241-100551242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73777928	chr5:100551243-100551244	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs4422508	chr5:100551244-100551245	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs141441391	chr5:100551273-100551274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192724320	chr5:100551304-100551305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531404570	chr5:100551317-100551318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527825965	chr5:100551337-100551338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547985877	chr5:100551347-100551348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538400877	chr5:100551356-100551357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551941405	chr5:100551383-100551384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184471528	chr5:100551418-100551419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531607140	chr5:100551447-100551448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189345467	chr5:100551472-100551473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs193239137	chr5:100551477-100551478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568045851	chr5:100551519-100551520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147781095	chr5:100551573-100551574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184805579	chr5:100551613-100551614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189411539	chr5:100551615-100551616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539577555	chr5:100551679-100551680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs28477662	chr5:100551682-100551683	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs28450028	chr5:100551747-100551748	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs538496419	chr5:100551764-100551765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200178742	chr5:100551815-100551816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146501941	chr5:100551821-100551822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377011637	chr5:100551831-100551832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567209148	chr5:100551867-100551868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116619307	chr5:100551870-100551871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141221630	chr5:100551879-100551880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150336379	chr5:100551885-100551886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541816430	chr5:100551886-100551887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs137984613	chr5:100551890-100551891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549432509	chr5:100551957-100551958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572187693	chr5:100551983-100551984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs17133261	chr5:100552004-100552005	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs181421426	chr5:100552155-100552156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564275314	chr5:100552173-100552174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553548463	chr5:100552198-100552199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531418016	chr5:100552251-100552252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs13161609	chr5:100552269-100552270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13165793	chr5:100552291-100552292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs13179029	chr5:100552339-100552340	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:60 , 50 per page) page: 1 2

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	chr5:100550000-100552400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr5:100550200-100552800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr5:100552400-100553400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr5:100552800-100553200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr5:100552800-100553400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr5:100552800-100553600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr5:100564200-100565200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:100565200-100566800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:100566400-100566800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr5:100566400-100566800	Enhancers	H9 Cell Line	embryonic stem cell
13	chr5:100566800-100567600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:100591800-100594200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:100594200-100594600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:100594600-100594800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:100596000-100596400	Enhancers	A549	lung
18	chr5:100596400-100596800	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr5:100596400-100596800	Flanking Active TSS	A549	lung
20	chr5:100596400-100597000	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr5:100596400-100598000	Enhancers	Fetal Intestine Large	intestine
22	chr5:100596800-100597200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
23	chr5:100596800-100597200	Enhancers	A549	lung
24	chr5:100597200-100598000	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr5:100597600-100600200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:100597800-100598000	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr5:100598000-100598800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr5:100599200-100600000	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr5:100600000-100600200	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr5:100600200-100600600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:100600200-100601200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr5:100600600-100601600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:100601200-100601800	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr5:100601600-100605400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:100607200-100607600	Enhancers	Dnd41	blood
36	chr5:100613400-100615000	Enhancers	HMEC	breast
37	chr5:100613800-100614000	Active TSS	A549	lung
38	chr5:100613800-100614200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr5:100613800-100614400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr5:100613800-100614800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr5:100614000-100614400	Flanking Active TSS	A549	lung
42	chr5:100614400-100615000	Enhancers	A549	lung
43	chr5:100614800-100615400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr5:100620600-100621200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:100624800-100625200	Enhancers	Hela-S3	cervix
46	chr5:100627400-100640200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:100628000-100629000	Enhancers	Dnd41	blood
48	chr5:100640200-100640600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr5:100640600-100641000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr5:100641200-100641400	Enhancers	HUES6 Cell Line	embryonic stem cell

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