Variant report

Variant	esv1814106
Chromosome Location	chr8:61089580-61105199
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61102724..61105275-chr8:61106074..61108720,2	K562	blood:
2	chr8:61099901..61102136-chr8:61109552..61111974,3	K562	blood:
3	chr8:61085167..61087969-chr8:61090479..61092210,2	K562	blood:
4	chr8:61084180..61086414-chr8:61091001..61092589,2	K562	blood:

Extended variants
information (count: 596 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:596 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2681554	chr8:61089580-61089581	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs2681555	chr8:61089612-61089613	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs551312890	chr8:61089637-61089638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181737116	chr8:61089665-61089666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11988301	chr8:61089666-61089667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375688122	chr8:61089671-61089672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527800901	chr8:61089693-61089694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549360531	chr8:61089742-61089743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567669956	chr8:61089743-61089744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530669297	chr8:61089854-61089855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538291395	chr8:61089909-61089910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200902749	chr8:61089921-61089922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556809458	chr8:61089956-61089957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs386725988	chr8:61089993-61089994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73683365	chr8:61089995-61089996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554093725	chr8:61090002-61090003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572570265	chr8:61090018-61090019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539942531	chr8:61090019-61090020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187226899	chr8:61090041-61090042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573290968	chr8:61090138-61090139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192110028	chr8:61090165-61090166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562777236	chr8:61090166-61090167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs62509952	chr8:61090287-61090288	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs373457355	chr8:61090294-61090295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545151904	chr8:61090361-61090362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560096307	chr8:61090395-61090396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527741485	chr8:61090400-61090401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2681558	chr8:61090435-61090436	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs567802734	chr8:61090448-61090449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541296306	chr8:61090458-61090459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2139583	chr8:61090507-61090508	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs549936212	chr8:61090516-61090517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182850584	chr8:61090534-61090535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538979654	chr8:61090568-61090569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535010022	chr8:61090602-61090603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139488082	chr8:61090611-61090612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs117671808	chr8:61090630-61090631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1520269	chr8:61090641-61090642	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs555027738	chr8:61090688-61090689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142693137	chr8:61090737-61090738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544164952	chr8:61090759-61090760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs17739496	chr8:61090767-61090768	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs577824682	chr8:61090773-61090774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544980878	chr8:61090817-61090818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186743632	chr8:61090864-61090865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535970828	chr8:61090876-61090877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1520273	chr8:61090895-61090896	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs542880162	chr8:61090903-61090904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190032989	chr8:61090909-61090910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373386674	chr8:61090910-61090911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
Schizophrenia	23813976	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61086400-61092400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr8:61087800-61089600	Enhancers	Adipose Nuclei	Adipose
3	chr8:61088800-61089800	Enhancers	K562	blood
4	chr8:61089800-61107800	Weak transcription	K562	blood
5	chr8:61090600-61100600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr8:61092400-61092600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr8:61093000-61093200	Enhancers	Left Ventricle	heart
8	chr8:61093200-61094000	Weak transcription	Left Ventricle	heart
9	chr8:61094000-61094200	Enhancers	Left Ventricle	heart
10	chr8:61094200-61106800	Weak transcription	Left Ventricle	heart
11	chr8:61094800-61096200	Enhancers	HUVEC	blood vessel
12	chr8:61095800-61096000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:61096000-61098000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:61096200-61096400	Bivalent Enhancer	HUVEC	blood vessel
15	chr8:61098000-61102400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:61098400-61099400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr8:61098800-61101000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr8:61099400-61100200	Strong transcription	Primary hematopoietic stem cells	blood
19	chr8:61100200-61129800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr8:61100600-61101200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr8:61101000-61101600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr8:61101200-61106800	Weak transcription	Fetal Intestine Large	intestine
23	chr8:61101200-61107800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr8:61101600-61106200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr8:61102400-61106800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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