Variant report

Variant	esv3378272
Chromosome Location	chr8:120258010-120258543
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 139 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532285131	chr8:120258014-120258015	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536508056	chr8:120258017-120258018	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541800911	chr8:120258061-120258062	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142280491	chr8:120258082-120258083	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566960483	chr8:120258124-120258125	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150832148	chr8:120258129-120258130	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554559390	chr8:120258143-120258144	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549375643	chr8:120258171-120258172	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567635281	chr8:120258172-120258173	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1364715	chr8:120258186-120258187	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs114475703	chr8:120258200-120258201	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs578112968	chr8:120258282-120258283	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539220902	chr8:120258298-120258299	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371443694	chr8:120258300-120258301	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553628201	chr8:120258303-120258304	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139409091	chr8:120258318-120258319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542246393	chr8:120258320-120258321	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560575007	chr8:120258321-120258322	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575601099	chr8:120258323-120258324	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543352063	chr8:120258328-120258329	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200805099	chr8:120258392-120258393	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368936847	chr8:120258393-120258394	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1364714	chr8:120258397-120258398	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs75524073	chr8:120258405-120258406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547552875	chr8:120258412-120258413	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187005909	chr8:120258420-120258421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75934374	chr8:120258430-120258431	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs56819929	chr8:120258446-120258447	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs549464021	chr8:120258455-120258456	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150072425	chr8:120258490-120258491	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:139)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120223800-120262400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:120230600-120261400	Weak transcription	Colonic Mucosa	Colon
3	chr8:120239400-120261600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr8:120240600-120266800	Weak transcription	Stomach Mucosa	stomach
5	chr8:120240800-120260800	Weak transcription	Gastric	stomach
6	chr8:120241000-120262400	Weak transcription	Fetal Stomach	stomach
7	chr8:120242400-120260800	Weak transcription	Esophagus	oesophagus
8	chr8:120242400-120261800	Weak transcription	Pancreas	Pancrea
9	chr8:120247200-120260800	Weak transcription	Fetal Intestine Small	intestine
10	chr8:120252200-120261800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr8:120252400-120259200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr8:120252400-120261400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:120252400-120262200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:120252400-120262200	Strong transcription	Liver	Liver
15	chr8:120252800-120261400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr8:120252800-120262400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr8:120253000-120260400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr8:120253200-120262800	Weak transcription	Adipose Nuclei	Adipose
19	chr8:120253600-120262000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:120254400-120261800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr8:120254600-120260000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr8:120255400-120262400	Weak transcription	HepG2	liver
23	chr8:120255800-120258400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr8:120256200-120260600	Weak transcription	NHEK	skin
25	chr8:120256400-120262400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr8:120256600-120259400	Strong transcription	HMEC	breast
27	chr8:120257200-120260600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr8:120257200-120260600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr8:120257200-120260600	Weak transcription	Hela-S3	cervix
30	chr8:120257200-120262800	Weak transcription	Fetal Intestine Large	intestine
31	chr8:120257400-120260800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr8:120257600-120260600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr8:120257800-120259800	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr8:120257800-120260600	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr8:120258400-120262000	Strong transcription	Duodenum Mucosa	Duodenum

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