Variant report

Variant	esv3480604
Chromosome Location	chr8:119932697-119933620
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	chr8:119921061..119923064-chr8:119931822..119933473,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 137 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551803476	chr8:119932734-119932735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs72680380	chr8:119932741-119932742	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs548674131	chr8:119932772-119932773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569668824	chr8:119932801-119932802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186817533	chr8:119932806-119932807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527649846	chr8:119932860-119932861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558793121	chr8:119932879-119932880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7835154	chr8:119932882-119932883	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs138038919	chr8:119932889-119932890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs367936867	chr8:119932937-119932938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567545585	chr8:119932959-119932960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553332011	chr8:119932964-119932965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192127231	chr8:119932965-119932966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541511735	chr8:119932992-119932993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs72351236	chr8:119933040-119933041	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs563390924	chr8:119933055-119933056	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs575274736	chr8:119933085-119933086	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs183386620	chr8:119933130-119933131	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs371554281	chr8:119933131-119933132	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs536481230	chr8:119933146-119933147	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs564353827	chr8:119933222-119933223	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs201355841	chr8:119933227-119933228	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs528424874	chr8:119933295-119933296	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs73709380	chr8:119933330-119933331	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs561694575	chr8:119933349-119933350	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs371610263	chr8:119933354-119933355	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs529088994	chr8:119933399-119933400	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs548365372	chr8:119933415-119933416	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs186789142	chr8:119933498-119933499	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs147144922	chr8:119933517-119933518	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs375750138	chr8:119933518-119933519	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs186184949	chr8:119933522-119933523	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs113264282	chr8:119933524-119933525	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs569777778	chr8:119933533-119933534	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs370012764	chr8:119933567-119933568	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs552198447	chr8:119933577-119933578	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs570799207	chr8:119933592-119933593	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs538359960	chr8:119933609-119933610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:137)

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

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119926800-119934600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr8:119927000-119935400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:119927000-119935600	Weak transcription	Osteobl	bone
4	chr8:119927200-119936400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:119927400-119941400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr8:119928200-119936200	Weak transcription	Fetal Intestine Large	intestine
7	chr8:119928400-119936600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:119928800-119956600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr8:119929000-119935400	Weak transcription	NHDF-Ad	bronchial
10	chr8:119929000-119936400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:119929000-119940400	Weak transcription	HSMMtube	muscle
12	chr8:119929200-119935400	Weak transcription	Hela-S3	cervix
13	chr8:119929200-119936200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:119929200-119936200	Weak transcription	HSMM	muscle
15	chr8:119929200-119936400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:119929200-119936600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:119929200-119947400	Weak transcription	NH-A	brain
18	chr8:119929400-119936000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:119929400-119936600	Weak transcription	NHLF	lung
20	chr8:119933000-119933600	Active TSS	K562	blood
21	chr8:119933200-119933400	Active TSS	Liver	Liver
22	chr8:119933200-119936400	Weak transcription	Aorta	Aorta
23	chr8:119933400-119938000	Weak transcription	Liver	Liver
24	chr8:119933600-119942600	Weak transcription	Fetal Intestine Small	intestine

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