Variant report

Variant	esv3323551
Chromosome Location	chr8:60119947-60147653
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:60126464..60129437-chr8:60135528..60137372,2	MCF-7	breast:
2	chr8:60089336..60092263-chr8:60117316..60119998,2	K562	blood:
3	chr8:60127615..60128279-chr8:60833868..60834810,2	MCF-7	breast:
4	chr8:60126464..60129437-chr8:60135528..60137372,2	MCF-7	breast:
5	chr8:60131223..60133472-chr8:60135461..60137451,2	K562	blood:
6	chr8:60131223..60133472-chr8:60135461..60137451,2	K562	blood:
7	chr8:60127735..60128371-chr8:60214631..60215199,2	MCF-7	breast:

Extended variants
information (count: 701 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:701 , 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	rs146910175	chr8:60120639-60120640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs111464321	chr8:60120644-60120645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141457230	chr8:60120649-60120650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546631107	chr8:60120657-60120658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559933620	chr8:60120658-60120659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183365473	chr8:60120694-60120695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs3110122	chr8:60120700-60120701	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs572759645	chr8:60120753-60120754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544942656	chr8:60120778-60120779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565055739	chr8:60120840-60120841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571592657	chr8:60120845-60120846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185956921	chr8:60120874-60120875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550765396	chr8:60120893-60120894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139012641	chr8:60120896-60120897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536391109	chr8:60120897-60120898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575462993	chr8:60120907-60120908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112334036	chr8:60120924-60120925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143034849	chr8:60120969-60120970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534470190	chr8:60121002-60121003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539010085	chr8:60121044-60121045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs113070118	chr8:60121059-60121060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558643830	chr8:60121092-60121093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575628791	chr8:60121126-60121127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544470748	chr8:60121170-60121171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547861466	chr8:60121180-60121181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561071145	chr8:60121227-60121228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574675050	chr8:60121281-60121282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544088230	chr8:60121340-60121341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539998425	chr8:60121395-60121396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562098236	chr8:60121702-60121703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570273838	chr8:60121729-60121730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529839067	chr8:60121803-60121804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs3122662	chr8:60121820-60121821	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs4504624	chr8:60121834-60121835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs115661043	chr8:60121905-60121906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs567568927	chr8:60121955-60121956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs370987475	chr8:60121980-60121981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs530294407	chr8:60122029-60122030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546816280	chr8:60122062-60122063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148125556	chr8:60122069-60122070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190723458	chr8:60122103-60122104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76737746	chr8:60122147-60122148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs74953444	chr8:60122192-60122193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375511274	chr8:60122216-60122217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559755050	chr8:60122217-60122218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370105229	chr8:60122220-60122221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528475832	chr8:60122248-60122249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374142427	chr8:60122283-60122284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182965850	chr8:60122300-60122301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554898655	chr8:60122311-60122312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Breast cancer	22522925	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:60120600-60121400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr8:60121600-60122000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
3	chr8:60121600-60125000	Enhancers	Dnd41	blood
4	chr8:60122000-60122800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr8:60122000-60122800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr8:60122200-60122800	Enhancers	GM12878-XiMat	blood
7	chr8:60122800-60123000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr8:60123000-60124000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr8:60124000-60124200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr8:60128200-60130000	Enhancers	Dnd41	blood
11	chr8:60130000-60131400	Weak transcription	Dnd41	blood
12	chr8:60131400-60132200	Enhancers	Dnd41	blood
13	chr8:60132200-60133200	ZNF genes & repeats	Dnd41	blood
14	chr8:60132200-60142400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:60135400-60135600	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
16	chr8:60135400-60136600	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr8:60135600-60135800	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
18	chr8:60135800-60136000	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
19	chr8:60136000-60136200	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
20	chr8:60136200-60136400	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
21	chr8:60139600-60140200	Enhancers	HUVEC	blood vessel
22	chr8:60146200-60146600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:60147200-60147800	Enhancers	Fetal Heart	heart

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