Variant report

Variant	esv3523420
Chromosome Location	chr8:121533396-121535519
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	chr8:121532282..121534379-chr8:121535503..121538039,2	K562	blood:
2	chr8:121532282..121534379-chr8:121535503..121538039,2	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 141 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545772693	chr8:121533446-121533447	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548926641	chr8:121533451-121533452	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564361489	chr8:121533458-121533459	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185163034	chr8:121533566-121533567	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531313714	chr8:121533572-121533573	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549699739	chr8:121533596-121533597	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190751418	chr8:121533599-121533600	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540127759	chr8:121533601-121533602	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139859310	chr8:121533614-121533615	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7016071	chr8:121533631-121533632	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs78291645	chr8:121533640-121533641	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529474069	chr8:121533657-121533658	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548032496	chr8:121533659-121533660	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566354475	chr8:121533675-121533676	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372018901	chr8:121533696-121533697	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs386729299	chr8:121533722-121533723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143924465	chr8:121533909-121533910	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181876264	chr8:121533939-121533940	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558516661	chr8:121533980-121533981	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577659190	chr8:121533998-121533999	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185375027	chr8:121534002-121534003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570400996	chr8:121534047-121534048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188172468	chr8:121534058-121534059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200677377	chr8:121534102-121534103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs67462051	chr8:121534104-121534105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538330498	chr8:121534106-121534107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113493949	chr8:121534126-121534127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111704437	chr8:121534137-121534138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369929332	chr8:121534146-121534147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12548297	chr8:121534154-121534155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12548250	chr8:121534168-121534169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs56374628	chr8:121534179-121534180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12548300	chr8:121534196-121534197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112195189	chr8:121534210-121534211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12543378	chr8:121534280-121534281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537852117	chr8:121534294-121534295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542764699	chr8:121534314-121534315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113807209	chr8:121534322-121534323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370855245	chr8:121534440-121534441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560925278	chr8:121534450-121534451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs13282130	chr8:121534462-121534463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369811356	chr8:121534504-121534505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13282160	chr8:121534532-121534533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111892292	chr8:121534546-121534547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199602088	chr8:121534568-121534569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13282196	chr8:121534574-121534575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569586756	chr8:121534614-121534615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374539971	chr8:121534616-121534617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181281899	chr8:121534643-121534644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541685703	chr8:121534755-121534756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:141)

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
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	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
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121458800-121539000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr8:121474600-121553600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr8:121484400-121541800	Weak transcription	Left Ventricle	heart
4	chr8:121488400-121539200	Weak transcription	HSMM	muscle
5	chr8:121491400-121541800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:121497200-121534200	Weak transcription	Small Intestine	intestine
7	chr8:121498200-121552400	Weak transcription	Pancreas	Pancrea
8	chr8:121499400-121550600	Weak transcription	Fetal Kidney	kidney
9	chr8:121499800-121550600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr8:121500000-121550800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr8:121501400-121540600	Weak transcription	GM12878-XiMat	blood
12	chr8:121502000-121542000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:121502200-121541600	Weak transcription	Adipose Nuclei	Adipose
14	chr8:121502200-121546600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr8:121502400-121541600	Weak transcription	Ovary	ovary
16	chr8:121502400-121542400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:121502400-121550600	Weak transcription	Fetal Intestine Large	intestine
18	chr8:121502800-121536400	Weak transcription	Hela-S3	cervix
19	chr8:121503200-121563000	Weak transcription	Esophagus	oesophagus
20	chr8:121503400-121542200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr8:121504200-121548200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:121504400-121536800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr8:121504400-121541600	Weak transcription	Fetal Muscle Leg	muscle
24	chr8:121504600-121550400	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr8:121507400-121537000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr8:121508600-121541600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr8:121511000-121533400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:121516000-121541400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr8:121518000-121539200	Weak transcription	Osteobl	bone
30	chr8:121519800-121562200	Weak transcription	Thymus	Thymus
31	chr8:121521000-121541400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr8:121521400-121549400	Weak transcription	HepG2	liver
33	chr8:121522400-121550800	Weak transcription	Aorta	Aorta
34	chr8:121524400-121550400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr8:121526200-121544200	Weak transcription	HSMMtube	muscle
36	chr8:121526400-121544000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr8:121526600-121550600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr8:121527000-121550800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr8:121527200-121553400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr8:121527400-121541200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr8:121527600-121541600	Weak transcription	Brain Substantia Nigra	brain
42	chr8:121527800-121533400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr8:121527800-121534000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:121527800-121540600	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr8:121527800-121581600	Weak transcription	Spleen	Spleen
46	chr8:121528200-121534000	Weak transcription	Fetal Lung	lung
47	chr8:121528800-121536200	Weak transcription	NH-A	brain
48	chr8:121528800-121543400	Weak transcription	Primary T cells from cord blood	blood
49	chr8:121528800-121550600	Weak transcription	Lung	lung
50	chr8:121529000-121549600	Weak transcription	Primary T helper cells PMA-I stimulated	--

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