Variant report

Variant	esv2188156
Chromosome Location	chr8:89248826-89249301
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	chr8:89247957..89250912-chr8:89288410..89290191,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533110730	chr8:89248830-89248831	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs118111995	chr8:89248912-89248913	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs559720254	chr8:89248916-89248917	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs375060602	chr8:89248932-89248933	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs527345276	chr8:89248947-89248948	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs548657252	chr8:89248962-89248963	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs373700964	chr8:89248982-89248983	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs376704627	chr8:89248983-89248984	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs368676222	chr8:89248984-89248985	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs373451612	chr8:89248985-89248986	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs567295319	chr8:89248986-89248987	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs538410941	chr8:89249003-89249004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560240715	chr8:89249016-89249017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550140804	chr8:89249039-89249040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571872418	chr8:89249071-89249072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538987957	chr8:89249101-89249102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554164694	chr8:89249102-89249103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs200862888	chr8:89249105-89249106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs6982189	chr8:89249106-89249107	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs184739035	chr8:89249119-89249120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187968006	chr8:89249123-89249124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143020159	chr8:89249170-89249171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577820551	chr8:89249177-89249178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544912228	chr8:89249184-89249185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560054565	chr8:89249188-89249189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs527286591	chr8:89249254-89249255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542240671	chr8:89249264-89249265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs116862374	chr8:89249271-89249272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538358520	chr8:89249273-89249274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531319794	chr8:89249274-89249275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs147450742	chr8:89249287-89249288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs547180595	chr8:89249299-89249300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	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
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	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
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
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
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
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Breast cancer	21611746	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Glioma	20126413	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:89239000-89260800	Weak transcription	Aorta	Aorta
2	chr8:89240200-89254800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:89240400-89254400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:89243400-89254400	Weak transcription	Osteobl	bone
5	chr8:89243800-89250000	Weak transcription	NHDF-Ad	bronchial
6	chr8:89243800-89252200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:89245800-89250000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr8:89246000-89252200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr8:89246000-89254600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr8:89246000-89254800	Weak transcription	Fetal Lung	lung
11	chr8:89246000-89255400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr8:89247000-89252200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:89247200-89252200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:89247200-89255000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr8:89247400-89255600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:89247600-89250200	Weak transcription	Fetal Intestine Small	intestine
17	chr8:89248000-89249600	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr8:89248200-89250800	Weak transcription	Right Ventricle	heart
19	chr8:89248600-89249000	Active TSS	Spleen	Spleen
20	chr8:89248600-89250400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:89248800-89249000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr8:89248800-89250000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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