Variant report

Variant	esv2760953
Chromosome Location	chr5:58609468-58620440
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	chr5:58618629..58620597-chr5:58633400..58635092,2	K562	blood:
2	chr5:58605150..58607520-chr5:58610737..58612919,2	K562	blood:

Extended variants
information (count: 426 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:426 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs153981	chr5:58609468-58609469	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs367999306	chr5:58609515-58609516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551595878	chr5:58609535-58609536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570119894	chr5:58609542-58609543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150896360	chr5:58609549-58609550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77737825	chr5:58609553-58609554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571422207	chr5:58609556-58609557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139423171	chr5:58609561-58609562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144538967	chr5:58609583-58609584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573897628	chr5:58609585-58609586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184028929	chr5:58609591-58609592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556507273	chr5:58609596-58609597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187644	chr5:58609611-58609612	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs373727983	chr5:58609630-58609631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189279514	chr5:58609638-58609639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181073483	chr5:58609700-58609701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567845405	chr5:58609702-58609703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370222758	chr5:58609800-58609801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558880603	chr5:58609831-58609832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146602779	chr5:58609848-58609849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527839409	chr5:58609893-58609894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541241979	chr5:58609918-58609919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577307216	chr5:58609949-58609950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112501427	chr5:58609956-58609957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373284391	chr5:58609959-58609960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375713411	chr5:58610013-58610014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562499671	chr5:58610054-58610055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535037238	chr5:58610089-58610090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs34314412	chr5:58610103-58610104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs372086407	chr5:58610109-58610110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375186576	chr5:58610197-58610198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs6897504	chr5:58610216-58610217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190487911	chr5:58610241-58610242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547064744	chr5:58610243-58610244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533943055	chr5:58610316-58610317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs76784632	chr5:58610320-58610321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs553627143	chr5:58610355-58610356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs140151588	chr5:58610383-58610384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs556233495	chr5:58610400-58610401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs118170409	chr5:58610406-58610407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538658226	chr5:58610412-58610413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558592107	chr5:58610494-58610495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs34445163	chr5:58610511-58610512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572185595	chr5:58610573-58610574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541161238	chr5:58610581-58610582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577606184	chr5:58610599-58610600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs6450515	chr5:58610620-58610621	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs143691213	chr5:58610622-58610623	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs114700239	chr5:58610623-58610624	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs369242694	chr5:58610641-58610642	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	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
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Lung adenocarcinoma	17982442	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:302 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58593000-58611200	Weak transcription	Right Ventricle	heart
2	chr5:58593200-58612600	Weak transcription	Fetal Lung	lung
3	chr5:58593200-58613400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:58594000-58612800	Weak transcription	Stomach Mucosa	stomach
5	chr5:58598000-58612600	Weak transcription	Fetal Intestine Large	intestine
6	chr5:58598000-58612800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:58598000-58612800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr5:58605000-58612800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:58605200-58612800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr5:58605200-58613000	Weak transcription	Fetal Brain Female	brain
11	chr5:58605600-58611200	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr5:58605800-58612400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:58606000-58612600	Weak transcription	Fetal Stomach	stomach
14	chr5:58606600-58609600	Enhancers	Hela-S3	cervix
15	chr5:58606800-58612800	Enhancers	Colon Smooth Muscle	Colon
16	chr5:58607000-58610600	Enhancers	A549	lung
17	chr5:58607000-58611000	Weak transcription	Fetal Intestine Small	intestine
18	chr5:58607000-58611600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr5:58607800-58611400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr5:58607800-58616400	Enhancers	Fetal Heart	heart
21	chr5:58608600-58612600	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr5:58608800-58609800	Weak transcription	Left Ventricle	heart
23	chr5:58608800-58612600	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr5:58609000-58609800	Enhancers	Stomach Smooth Muscle	stomach
25	chr5:58609000-58610000	Weak transcription	Fetal Muscle Leg	muscle
26	chr5:58609000-58610200	Enhancers	Rectal Smooth Muscle	rectum
27	chr5:58609000-58611400	Weak transcription	Right Atrium	heart
28	chr5:58609200-58610000	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr5:58609400-58610200	Weak transcription	Psoas Muscle	Psoas
30	chr5:58609600-58610600	Weak transcription	Hela-S3	cervix
31	chr5:58609800-58612000	Enhancers	Left Ventricle	heart
32	chr5:58609800-58612600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr5:58610000-58612600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr5:58610000-58613800	Enhancers	Fetal Muscle Leg	muscle
35	chr5:58610200-58612000	Enhancers	Psoas Muscle	Psoas
36	chr5:58610200-58612200	Weak transcription	Rectal Smooth Muscle	rectum
37	chr5:58610200-58612800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr5:58610600-58611600	Genic enhancers	A549	lung
39	chr5:58610600-58613000	Enhancers	Hela-S3	cervix
40	chr5:58611000-58611200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr5:58611200-58611400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr5:58611200-58611800	Enhancers	Right Ventricle	heart
43	chr5:58611200-58611800	Enhancers	Spleen	Spleen
44	chr5:58611200-58613800	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr5:58611400-58611600	Enhancers	Gastric	stomach
46	chr5:58611400-58612000	Enhancers	Right Atrium	heart
47	chr5:58611400-58613000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr5:58611400-58613000	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr5:58611600-58611800	Enhancers	Colonic Mucosa	Colon
50	chr5:58611600-58612600	Weak transcription	Fetal Intestine Small	intestine

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