Variant report

Variant	esv2763863
Chromosome Location	chr5:120408473-120468807
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:120435633..120438376-chr5:120443596..120446057,2	MCF-7	breast:
2	chr5:120449899..120451786-chr5:120452739..120454812,2	K562	blood:
3	chr5:120449899..120451786-chr5:120452739..120454812,2	K562	blood:
4	chr5:120466262..120468288-chr5:120477634..120479614,2	K562	blood:
5	chr5:120466262..120468152-chr5:120477634..120479866,2	K562	blood:
6	chr5:120435633..120438376-chr5:120443596..120446057,2	MCF-7	breast:
7	chr5:120430789..120432374-chr5:120435217..120437128,2	K562	blood:
8	chr5:120430789..120432374-chr5:120435217..120437128,2	K562	blood:

No data

Extended variants
information (count: 638 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:638 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368144997	chr5:120413016-120413017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs115745099	chr5:120413021-120413022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7723799	chr5:120413022-120413023	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs180864577	chr5:120413049-120413050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545361850	chr5:120413073-120413074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563862441	chr5:120413094-120413095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531261603	chr5:120413119-120413120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs17164668	chr5:120413227-120413228	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs151044884	chr5:120413233-120413234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530792788	chr5:120413263-120413264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs17164669	chr5:120413269-120413270	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs184145781	chr5:120413294-120413295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371604564	chr5:120413343-120413344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190654675	chr5:120413370-120413371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181795012	chr5:120413373-120413374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570174084	chr5:120413430-120413431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs368460296	chr5:120413447-120413448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185929687	chr5:120413449-120413450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs140922988	chr5:120413509-120413510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146591655	chr5:120413510-120413511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555894046	chr5:120413525-120413526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs139104079	chr5:120413541-120413542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534892743	chr5:120413542-120413543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553647281	chr5:120413558-120413559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs17164671	chr5:120413565-120413566	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs545401394	chr5:120413582-120413583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372613662	chr5:120413586-120413587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557369257	chr5:120413592-120413593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs578050729	chr5:120413664-120413665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10073405	chr5:120413737-120413738	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs112718210	chr5:120413745-120413746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561610486	chr5:120413755-120413756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529101387	chr5:120413768-120413769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543325242	chr5:120413775-120413776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540839635	chr5:120413783-120413784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372424952	chr5:120413802-120413803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533221431	chr5:120413820-120413821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs141344523	chr5:120413832-120413833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570112348	chr5:120413838-120413839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs10041035	chr5:120413849-120413850	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs114293212	chr5:120414065-120414066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs73266546	chr5:120414092-120414093	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs535244493	chr5:120414093-120414094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs553248178	chr5:120414115-120414116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs116355175	chr5:120414117-120414118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs372884225	chr5:120414124-120414125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs538991058	chr5:120414157-120414158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs557207492	chr5:120414182-120414183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs575664468	chr5:120414189-120414190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139895235	chr5:120423266-120423267	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
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
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
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:120413000-120414200	Enhancers	Dnd41	blood
2	chr5:120423200-120424400	ZNF genes & repeats	Dnd41	blood
3	chr5:120424400-120425400	Weak transcription	Dnd41	blood
4	chr5:120425400-120427000	Enhancers	Dnd41	blood
5	chr5:120440400-120440800	Enhancers	Spleen	Spleen
6	chr5:120442200-120442800	ZNF genes & repeats	Dnd41	blood
7	chr5:120442800-120444000	Weak transcription	Dnd41	blood
8	chr5:120443000-120447600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:120443400-120445000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:120443800-120444000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr5:120444000-120444400	ZNF genes & repeats	Dnd41	blood
12	chr5:120444000-120444600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr5:120444000-120444600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr5:120444000-120444800	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr5:120444200-120444400	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr5:120444200-120444600	Enhancers	H1 Cell Line	embryonic stem cell
17	chr5:120444400-120444600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr5:120444400-120444800	Enhancers	Placenta	Placenta
19	chr5:120444400-120444800	Active TSS	Hela-S3	cervix
20	chr5:120444400-120445600	Enhancers	Dnd41	blood
21	chr5:120444600-120444800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr5:120445000-120449000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:120447600-120447800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:120449000-120449600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:120449600-120450200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:120463600-120464200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr5:120466400-120466800	Enhancers	Fetal Heart	heart
28	chr5:120468000-120469000	Enhancers	Dnd41	blood

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