Variant report

Variant	esv2761195
Chromosome Location	chr8:68544033-68568185
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:68547352..68551056-chr8:68551265..68553707,4	K562	blood:
2	chr8:68556723..68559195-chr8:68561641..68563171,2	MCF-7	breast:
3	chr8:68548341..68551213-chr8:68551272..68553707,2	K562	blood:
4	chr8:68546219..68548074-chr8:68552371..68554076,2	MCF-7	breast:
5	chr8:68547352..68551056-chr8:68551265..68553707,4	K562	blood:
6	chr8:68546219..68548074-chr8:68552371..68554076,2	MCF-7	breast:
7	chr8:68544829..68547462-chr8:68549274..68551822,2	K562	blood:
8	chr8:68544829..68547462-chr8:68549274..68551822,2	K562	blood:
9	chr8:68548341..68551213-chr8:68551272..68553707,2	K562	blood:
10	chr8:68518664..68520365-chr8:68551960..68554902,2	MCF-7	breast:
11	chr8:68556723..68559195-chr8:68561641..68563171,2	MCF-7	breast:

No data

Extended variants
information (count: 660 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:660 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551649302	chr8:68544038-68544039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs371304870	chr8:68544051-68544052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562245763	chr8:68544104-68544105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567096028	chr8:68544137-68544138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531194343	chr8:68544139-68544140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550908112	chr8:68544152-68544153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570995566	chr8:68544155-68544156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531208730	chr8:68544158-68544159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs145632939	chr8:68544195-68544196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565768900	chr8:68544198-68544199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534648777	chr8:68544230-68544231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554505516	chr8:68544234-68544235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551578900	chr8:68544236-68544237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574657109	chr8:68544237-68544238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528039704	chr8:68544242-68544243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537320323	chr8:68544269-68544270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556900688	chr8:68544274-68544275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569806358	chr8:68544344-68544345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs377303586	chr8:68544352-68544353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs398047244	chr8:68544384-68544385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs3221972	chr8:68544386-68544387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545580153	chr8:68544391-68544392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555812708	chr8:68544393-68544394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553629989	chr8:68548255-68548256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs11991669	chr8:68548258-68548259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142734053	chr8:68548275-68548276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556085263	chr8:68548327-68548328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs78444647	chr8:68548387-68548388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs147358524	chr8:68548392-68548393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs6472325	chr8:68548445-68548446	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs565159991	chr8:68548454-68548455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527522091	chr8:68548458-68548459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541216606	chr8:68548534-68548535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561228682	chr8:68548607-68548608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs137883881	chr8:68548637-68548638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572636060	chr8:68548744-68548745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187363162	chr8:68548764-68548765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563313456	chr8:68548794-68548795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111987909	chr8:68548795-68548796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs542894026	chr8:68548835-68548836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs6472327	chr8:68548904-68548905	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs566026833	chr8:68548918-68548919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528851072	chr8:68548993-68548994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs534956991	chr8:68549039-68549040	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs144133322	chr8:68549040-68549041	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs567260331	chr8:68549104-68549105	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs144386552	chr8:68549137-68549138	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs555910495	chr8:68549180-68549181	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs377062237	chr8:68549199-68549200	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs573225754	chr8:68550800-68550801	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
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
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	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
Cancer	16751803	CNVD
Salivary gland tumor	18059337	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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	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
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
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
head and neck squamous cell carcinoma	16715129	CNVD
Prostate cancer	16461572	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:68544000-68544400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr8:68548200-68548800	Enhancers	Colon Smooth Muscle	Colon
3	chr8:68548200-68548800	Enhancers	Rectal Smooth Muscle	rectum
4	chr8:68548600-68549000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:68549000-68549200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr8:68550800-68552000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:68550800-68552000	Enhancers	Adipose Nuclei	Adipose
8	chr8:68551400-68553400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:68551600-68551800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:68551600-68551800	Enhancers	Esophagus	oesophagus
11	chr8:68551600-68552800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:68551800-68552800	Weak transcription	Esophagus	oesophagus
13	chr8:68551800-68553200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:68552000-68552200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
15	chr8:68552000-68552400	Weak transcription	Adipose Nuclei	Adipose
16	chr8:68552200-68553400	Enhancers	Pancreas	Pancrea
17	chr8:68552400-68553200	Enhancers	Adipose Nuclei	Adipose
18	chr8:68552800-68553400	Enhancers	Esophagus	oesophagus
19	chr8:68553000-68553400	Enhancers	Gastric	stomach
20	chr8:68553200-68553400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:68553400-68553800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:68555400-68556200	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr8:68555400-68556200	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr8:68556200-68559600	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr8:68556200-68559600	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr8:68559200-68561000	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr8:68559200-68561400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr8:68559200-68562200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:68559600-68559800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr8:68559600-68559800	Enhancers	H9 Cell Line	embryonic stem cell
31	chr8:68559600-68560800	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr8:68559600-68560800	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr8:68559600-68561000	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr8:68559600-68562000	Enhancers	Primary hematopoietic stem cells	blood
35	chr8:68559800-68560600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr8:68559800-68560800	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr8:68559800-68563000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr8:68560000-68561400	Enhancers	Brain Anterior Caudate	brain
39	chr8:68560000-68561600	Enhancers	Brain Hippocampus Middle	brain
40	chr8:68560000-68561800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr8:68560000-68561800	Enhancers	Fetal Brain Male	brain
42	chr8:68560000-68562800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:68560200-68560800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr8:68560200-68561000	Enhancers	Fetal Stomach	stomach
45	chr8:68560200-68561400	Enhancers	Brain Cingulate Gyrus	brain
46	chr8:68560200-68561600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:68560200-68562800	Enhancers	Adipose Nuclei	Adipose
48	chr8:68560200-68563000	Enhancers	Colon Smooth Muscle	Colon
49	chr8:68560400-68561400	Enhancers	Brain Angular Gyrus	brain
50	chr8:68560600-68560800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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