Variant report

Variant	nsv819372
Chromosome Location	chr8:121512657-121514799
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:121510638..121513169-chr8:121514269..121517383,3	K562	blood:
2	chr8:121510638..121513169-chr8:121514269..121517383,3	K562	blood:
3	chr8:121513049..121516697-chr8:121519405..121522575,3	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 141 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4431630	chr8:121512715-121512716	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs375449103	chr8:121512797-121512798	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188944444	chr8:121512820-121512821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371910778	chr8:121512917-121512918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115937425	chr8:121512985-121512986	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377149765	chr8:121513028-121513029	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530773858	chr8:121513099-121513100	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10085998	chr8:121513157-121513158	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs140058642	chr8:121513158-121513159	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192589850	chr8:121513160-121513161	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546544974	chr8:121513185-121513186	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535757074	chr8:121513197-121513198	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184738198	chr8:121513198-121513199	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188323077	chr8:121513200-121513201	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375897108	chr8:121513232-121513233	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548474206	chr8:121513238-121513239	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569911898	chr8:121513287-121513288	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562109350	chr8:121513302-121513303	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537286543	chr8:121513314-121513315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10086229	chr8:121513323-121513324	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs537693998	chr8:121513362-121513363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376980828	chr8:121513363-121513364	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181034437	chr8:121513387-121513388	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553292329	chr8:121513411-121513412	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541427214	chr8:121513417-121513418	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139608338	chr8:121513431-121513432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs59706254	chr8:121513452-121513453	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557819053	chr8:121513534-121513535	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10086640	chr8:121513537-121513538	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs533487238	chr8:121513549-121513550	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551984758	chr8:121513550-121513551	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186070699	chr8:121513580-121513581	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575496517	chr8:121513594-121513595	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34416297	chr8:121513633-121513634	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs62528338	chr8:121513661-121513662	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62528339	chr8:121513669-121513670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375596018	chr8:121513708-121513709	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540215366	chr8:121513724-121513725	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546050564	chr8:121513760-121513761	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34179952	chr8:121513771-121513772	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200657958	chr8:121513798-121513799	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs202002423	chr8:121513799-121513800	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564151015	chr8:121513814-121513815	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77974294	chr8:121513849-121513850	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189697549	chr8:121513884-121513885	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539959701	chr8:121513917-121513918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs80135439	chr8:121513993-121513994	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75663355	chr8:121514151-121514152	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548462008	chr8:121514163-121514164	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563672682	chr8:121514164-121514165	Weak transcription Strong 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
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121458600-121516400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr8:121458800-121539000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr8:121459000-121528600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:121469200-121515200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:121474600-121553600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr8:121484400-121541800	Weak transcription	Left Ventricle	heart
7	chr8:121488400-121539200	Weak transcription	HSMM	muscle
8	chr8:121491400-121541800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr8:121497200-121534200	Weak transcription	Small Intestine	intestine
10	chr8:121498200-121552400	Weak transcription	Pancreas	Pancrea
11	chr8:121498600-121533200	Weak transcription	HMEC	breast
12	chr8:121498800-121530200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr8:121499400-121530600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:121499400-121550600	Weak transcription	Fetal Kidney	kidney
15	chr8:121499800-121550600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr8:121500000-121530800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr8:121500000-121550800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr8:121500400-121514400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:121500400-121531600	Weak transcription	K562	blood
20	chr8:121500600-121513000	Weak transcription	NHEK	skin
21	chr8:121501200-121520600	Weak transcription	HepG2	liver
22	chr8:121501400-121540600	Weak transcription	GM12878-XiMat	blood
23	chr8:121502000-121542000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:121502200-121541600	Weak transcription	Adipose Nuclei	Adipose
25	chr8:121502200-121546600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr8:121502400-121512800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr8:121502400-121526800	Weak transcription	Primary T cells from cord blood	blood
28	chr8:121502400-121527800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr8:121502400-121530800	Weak transcription	Primary B cells from cord blood	blood
30	chr8:121502400-121541600	Weak transcription	Ovary	ovary
31	chr8:121502400-121542400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:121502400-121550600	Weak transcription	Fetal Intestine Large	intestine
33	chr8:121502600-121530200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr8:121502800-121528000	Weak transcription	Fetal Thymus	thymus
35	chr8:121502800-121528200	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr8:121502800-121536400	Weak transcription	Hela-S3	cervix
37	chr8:121503200-121563000	Weak transcription	Esophagus	oesophagus
38	chr8:121503400-121519400	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr8:121503400-121542200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr8:121504200-121527200	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr8:121504200-121548200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr8:121504400-121527400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr8:121504400-121536800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr8:121504400-121541600	Weak transcription	Fetal Muscle Leg	muscle
45	chr8:121504600-121527600	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr8:121504600-121550400	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr8:121504800-121517200	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr8:121504800-121526800	Weak transcription	Fetal Lung	lung
49	chr8:121507400-121514600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr8:121507400-121537000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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