Variant report

Variant	esv2005767
Chromosome Location	chr8:119959288-119959711
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	chr8:119954185..119957500-chr8:119957720..119961384,3	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 138 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542943839	chr8:119959312-119959313	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561304510	chr8:119959313-119959314	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531632875	chr8:119959334-119959335	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs3102731	chr8:119959389-119959390	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs571656987	chr8:119959428-119959429	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs11573832	chr8:119959451-119959452	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs142514225	chr8:119959452-119959453	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs11573833	chr8:119959483-119959484	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs374808324	chr8:119959498-119959499	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs200381827	chr8:119959500-119959501	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs372994483	chr8:119959501-119959502	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs376966630	chr8:119959503-119959504	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs369973179	chr8:119959504-119959505	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs547931438	chr8:119959533-119959534	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs559075496	chr8:119959579-119959580	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs11573831	chr8:119959594-119959595	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs11573830	chr8:119959616-119959617	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs11573829	chr8:119959623-119959624	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs189459393	chr8:119959655-119959656	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs3134063	chr8:119959657-119959658	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs558887600	chr8:119959670-119959671	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:138)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Testicular cancer	18059402	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
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	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	18698023	CNVD
Multiple myeloma	16461302	CNVD
Uveal melanoma	20484589	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Breast cancer	19181860	CNVD
Endometrial cancer	23636398	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119945400-119960800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr8:119945600-119960600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:119948200-119960200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:119948400-119959600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:119948400-119960600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:119951600-119959400	Strong transcription	NHDF-Ad	bronchial
7	chr8:119953400-119963600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr8:119954200-119959600	Strong transcription	Osteobl	bone
9	chr8:119954200-119962600	Weak transcription	Fetal Intestine Large	intestine
10	chr8:119956000-119959600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:119956000-119960400	Weak transcription	Fetal Kidney	kidney
12	chr8:119956800-119960600	Weak transcription	HSMMtube	muscle
13	chr8:119957000-119959400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr8:119957000-119959600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr8:119957200-119959600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:119957200-119959600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr8:119957200-119960200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr8:119957200-119960400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:119958200-119959400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:119958600-119960400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:119958600-119960400	Weak transcription	Fetal Lung	lung
22	chr8:119958800-119959400	Weak transcription	NHLF	lung
23	chr8:119959000-119960400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:119959000-119960600	Weak transcription	Aorta	Aorta
25	chr8:119959200-119961800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr8:119959400-119959600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr8:119959400-119959600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr8:119959400-119959600	Genic enhancers	NHDF-Ad	bronchial
29	chr8:119959400-119959600	Active TSS	NHLF	lung
30	chr8:119959400-119960000	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr8:119959400-119961600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr8:119959600-119959800	Transcr. at gene 5' and 3'	NHLF	lung
33	chr8:119959600-119960200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr8:119959600-119960200	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr8:119959600-119960400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr8:119959600-119960400	Genic enhancers	Osteobl	bone
37	chr8:119959600-119960800	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
38	chr8:119959600-119961600	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr8:119959600-119961600	Enhancers	H1 Cell Line	embryonic stem cell
40	chr8:119959600-119961600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr8:119959600-119961600	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr8:119959600-119961600	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr8:119959600-119961800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:119959600-119961800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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