Variant report

Variant	esv3480494
Chromosome Location	chr8:68156374-68162214
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	chr8:68151600..68153614-chr8:68161063..68163903,2	K562	blood:
2	chr8:68161941..68162818-chr8:68368451..68369242,2	MCF-7	breast:

Extended variants
information (count: 194 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:194 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187521167	chr8:68156409-68156410	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561948244	chr8:68156414-68156415	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192044479	chr8:68156457-68156458	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185031074	chr8:68156465-68156466	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs13254896	chr8:68156473-68156474	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34333039	chr8:68156477-68156478	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs71517407	chr8:68156506-68156507	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs71249427	chr8:68156511-68156512	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371397864	chr8:68156512-68156513	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542312265	chr8:68156538-68156539	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374044408	chr8:68156551-68156552	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376228822	chr8:68156552-68156553	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111968611	chr8:68156554-68156555	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74412820	chr8:68156579-68156580	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564094020	chr8:68156585-68156586	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533159762	chr8:68156600-68156601	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs573467147	chr8:68156606-68156607	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs546728683	chr8:68156610-68156611	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs75623345	chr8:68156622-68156623	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs187905407	chr8:68156636-68156637	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs192861866	chr8:68156649-68156650	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs113939296	chr8:68156686-68156687	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs563543589	chr8:68156731-68156732	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs569185519	chr8:68156766-68156767	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs114087569	chr8:68156780-68156781	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs530975571	chr8:68156786-68156787	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs552065476	chr8:68156823-68156824	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571702897	chr8:68156824-68156825	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534452414	chr8:68156887-68156888	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552784248	chr8:68156928-68156929	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573008957	chr8:68156937-68156938	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184415293	chr8:68156998-68156999	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535421757	chr8:68157114-68157115	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552387991	chr8:68157189-68157190	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs200329134	chr8:68157209-68157210	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372106529	chr8:68157234-68157235	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557200677	chr8:68157285-68157286	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564407892	chr8:68157337-68157338	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577758275	chr8:68157375-68157376	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540459072	chr8:68157446-68157447	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560195624	chr8:68157451-68157452	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529374120	chr8:68157463-68157464	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549087394	chr8:68157494-68157495	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562507737	chr8:68157562-68157563	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531605917	chr8:68157592-68157593	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551785322	chr8:68157602-68157603	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs116435483	chr8:68157686-68157687	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs534115682	chr8:68157784-68157785	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547998848	chr8:68157787-68157788	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542651991	chr8:68157805-68157806	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	17142309	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

Chromatin state (count:289 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:68103600-68158200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr8:68104600-68193000	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr8:68104600-68215600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr8:68104800-68159600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:68104800-68182400	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr8:68105000-68184400	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr8:68105600-68158800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr8:68113000-68172600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr8:68119000-68157200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:68135200-68184400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr8:68139000-68178000	Weak transcription	Small Intestine	intestine
12	chr8:68139600-68161400	Weak transcription	Fetal Brain Male	brain
13	chr8:68139800-68162200	Weak transcription	A549	lung
14	chr8:68142000-68158800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr8:68143800-68158600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr8:68146000-68157400	Strong transcription	Adipose Nuclei	Adipose
17	chr8:68146000-68168200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr8:68149000-68157400	Weak transcription	HUVEC	blood vessel
19	chr8:68149600-68167200	Weak transcription	Fetal Heart	heart
20	chr8:68149800-68173000	Weak transcription	Psoas Muscle	Psoas
21	chr8:68150600-68161600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr8:68150800-68157400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr8:68151200-68159800	Weak transcription	HSMMtube	muscle
24	chr8:68151200-68161000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr8:68151200-68161000	Weak transcription	HSMM	muscle
26	chr8:68151200-68161000	Weak transcription	NH-A	brain
27	chr8:68152600-68156800	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr8:68153400-68157200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr8:68153600-68156800	Strong transcription	Primary T cells from cord blood	blood
30	chr8:68153600-68159400	Strong transcription	Primary hematopoietic stem cells	blood
31	chr8:68153600-68181000	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr8:68153800-68156800	Strong transcription	Fetal Intestine Large	intestine
33	chr8:68153800-68157400	Strong transcription	Fetal Muscle Leg	muscle
34	chr8:68153800-68159200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr8:68153800-68168400	Strong transcription	Fetal Thymus	thymus
36	chr8:68154000-68156800	Strong transcription	Fetal Intestine Small	intestine
37	chr8:68154000-68156800	Strong transcription	Fetal Stomach	stomach
38	chr8:68154000-68156800	Strong transcription	Lung	lung
39	chr8:68154000-68158800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:68154000-68158800	Strong transcription	Dnd41	blood
41	chr8:68154000-68170800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr8:68154200-68156800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr8:68154200-68156800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr8:68154200-68156800	Strong transcription	Right Ventricle	heart
45	chr8:68154200-68157200	Strong transcription	Liver	Liver
46	chr8:68154200-68157800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
47	chr8:68154400-68156800	Strong transcription	Brain Germinal Matrix	brain
48	chr8:68154800-68157000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
49	chr8:68154800-68157000	Strong transcription	Fetal Muscle Trunk	muscle
50	chr8:68154800-68157800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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