Variant report

Variant	esv3516269
Chromosome Location	chr8:60985447-61009090
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:3)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:60999306..61001965-chr8:61002281..61004182,2	MCF-7	breast:
2	chr8:60982406..60984048-chr8:61008444..61010010,2	K562	blood:
3	chr8:60999306..61001965-chr8:61002281..61004182,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RAB2A-1	chr8:60987153-60987282	XLOC_006814
2	lnc-RAB2A-1	chr8:60987153-60987274	ENSG00000254775
3	lnc-RAB2A-1	chr8:60987153-60987282	NONHSAT126813
4	lnc-RAB2A-1	chr8:60987153-60987353	XLOC_006814

No data

Variant related genes	Relation type
HNRNPA2B1	miRNA target sites

Extended variants
information (count: 225 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:225 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144595095	chr8:60985465-60985466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562102865	chr8:60985497-60985498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs368770470	chr8:60985510-60985511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182563944	chr8:60985534-60985535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562945226	chr8:60985543-60985544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533585412	chr8:60985549-60985550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186613410	chr8:60987158-60987159	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs555652778	chr8:60987180-60987181	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs567553989	chr8:60987239-60987240	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs552377143	chr8:60987292-60987293	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs538273060	chr8:60987319-60987320	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs148129196	chr8:60987331-60987332	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs191151080	chr8:60987412-60987413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs73684951	chr8:60987416-60987417	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs73257569	chr8:60987477-60987478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542836930	chr8:60987497-60987498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2688654	chr8:60987518-60987519	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs531879086	chr8:60987521-60987522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186841452	chr8:60987573-60987574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs11305149	chr8:60987584-60987585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73684952	chr8:60987602-60987603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559167900	chr8:60987607-60987608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs59278405	chr8:60987610-60987611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532718242	chr8:60987653-60987654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570315065	chr8:60987681-60987682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566413394	chr8:60987706-60987707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs527517626	chr8:60987769-60987770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548885901	chr8:60987802-60987803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567612760	chr8:60987831-60987832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs34493532	chr8:60987883-60987884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs538129185	chr8:60987884-60987885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192932301	chr8:60987940-60987941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs571672025	chr8:60987976-60987977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190421532	chr8:60988400-60988401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375799920	chr8:60988443-60988444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs561073498	chr8:60988444-60988445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143039538	chr8:60988493-60988494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550122097	chr8:60988521-60988522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571532987	chr8:60988524-60988525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539050990	chr8:60988608-60988609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs113113020	chr8:60988619-60988620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs547471938	chr8:60988638-60988639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs566205104	chr8:60988640-60988641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370181166	chr8:60988645-60988646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs55730968	chr8:60988653-60988654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs2688653	chr8:60988669-60988670	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs193058608	chr8:60988698-60988699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs56867466	chr8:60988715-60988716	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs7812852	chr8:60988721-60988722	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs577591799	chr8:60988722-60988723	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:60985200-60985600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr8:60987400-60987800	Enhancers	Primary B cells from cord blood	blood
3	chr8:60987400-60988000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:60988400-60988800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:60988400-60989000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:60994600-60995600	Enhancers	Primary B cells from peripheral blood	blood
7	chr8:60994800-60995600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr8:60995000-60995600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr8:61001200-61001600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr8:61001600-61002600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr8:61002600-61002800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr8:61002600-61002800	Enhancers	Colon Smooth Muscle	Colon
13	chr8:61002800-61003400	Weak transcription	Colon Smooth Muscle	Colon
14	chr8:61003200-61004800	Enhancers	Rectal Smooth Muscle	rectum
15	chr8:61003400-61004400	Enhancers	Colon Smooth Muscle	Colon

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