Variant report

Variant	esv2760945
Chromosome Location	chr5:101531329-101564111
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:98439759..98440660-chr5:101559209..101559794,3	K562	blood:

Extended variants
information (count: 714 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:714 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531746760	chr5:101536808-101536809	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs550140072	chr5:101536814-101536815	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs180780447	chr5:101536836-101536837	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs529156720	chr5:101536860-101536861	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs73181990	chr5:101536870-101536871	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs551701511	chr5:101536942-101536943	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs533187871	chr5:101536948-101536949	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs551312525	chr5:101536961-101536962	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs115150129	chr5:101536976-101536977	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs527467091	chr5:101537001-101537002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549188568	chr5:101537002-101537003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs56181932	chr5:101537017-101537018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114182281	chr5:101537036-101537037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567152259	chr5:101537092-101537093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73181992	chr5:101537093-101537094	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs57377403	chr5:101537253-101537254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs113620676	chr5:101537266-101537267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs369971845	chr5:101537341-101537342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs115875785	chr5:101538004-101538005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186073913	chr5:101538005-101538006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375456414	chr5:101538011-101538012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576568527	chr5:101538024-101538025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs367805520	chr5:101538034-101538035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543862720	chr5:101538068-101538069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542828610	chr5:101538069-101538070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs67736259	chr5:101538104-101538105	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs574206938	chr5:101538166-101538167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541424468	chr5:101538199-101538200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs375298734	chr5:101538321-101538322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12055358	chr5:101538343-101538344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73181999	chr5:101538415-101538416	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs560408081	chr5:101538461-101538462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369942404	chr5:101538471-101538472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs578248527	chr5:101538502-101538503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs190446966	chr5:101538539-101538540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183061894	chr5:101538555-101538556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185564272	chr5:101538594-101538595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562622106	chr5:101538603-101538604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530635457	chr5:101538623-101538624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191270283	chr5:101538639-101538640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577705550	chr5:101538694-101538695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs560628319	chr5:101538760-101538761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545059954	chr5:101538776-101538777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs111648905	chr5:101538800-101538801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115810953	chr5:101538861-101538862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147503909	chr5:101538865-101538866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182743447	chr5:101538893-101538894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551801627	chr5:101538906-101538907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570201335	chr5:101538917-101538918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537223479	chr5:101538933-101538934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Breast cancer	21509527	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:101536800-101537000	Bivalent Enhancer	HepG2	liver
2	chr5:101536800-101537200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:101537000-101537400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:101538000-101538800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:101538800-101539800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:101539800-101540000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:101546400-101547800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr5:101546400-101547800	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr5:101546800-101547200	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr5:101546800-101547400	Enhancers	HepG2	liver
11	chr5:101546800-101547600	Enhancers	Liver	Liver
12	chr5:101547200-101548200	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr5:101547400-101551800	Weak transcription	HepG2	liver
14	chr5:101547600-101551800	Weak transcription	Liver	Liver
15	chr5:101548200-101548400	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr5:101549400-101549600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
17	chr5:101550600-101551200	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr5:101551200-101551800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr5:101551400-101551800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr5:101551800-101552000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr5:101551800-101552000	Enhancers	H1 Cell Line	embryonic stem cell
22	chr5:101551800-101552000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr5:101551800-101552000	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr5:101551800-101552000	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr5:101551800-101552200	Enhancers	Liver	Liver
26	chr5:101551800-101552400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr5:101551800-101553000	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr5:101551800-101553200	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr5:101551800-101553200	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr5:101551800-101553400	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr5:101551800-101555000	Enhancers	HepG2	liver
32	chr5:101552000-101552200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr5:101552000-101552400	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr5:101552000-101552400	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr5:101552000-101553200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr5:101552200-101552600	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr5:101552200-101552600	Flanking Active TSS	Liver	Liver
38	chr5:101552200-101553200	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr5:101552400-101552600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr5:101552400-101553400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr5:101552600-101552800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr5:101552600-101552800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr5:101552600-101553200	Enhancers	Liver	Liver
44	chr5:101553200-101553400	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr5:101553200-101553600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
46	chr5:101553200-101553600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
47	chr5:101553200-101554000	Enhancers	H1 Cell Line	embryonic stem cell
48	chr5:101553200-101554000	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr5:101553200-101554400	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr5:101553400-101553600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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