Variant report

Variant	nsv971260
Chromosome Location	chr8:121418214-121420621
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	chr8:121407423..121410250-chr8:121415555..121418365,2	MCF-7	breast:
2	chr8:121420399..121421994-chr8:121434767..121437184,2	K562	blood:

Extended variants
information (count: 91 )
Associated
traits (count: 141 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538155652	chr8:121418240-121418241	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550068111	chr8:121418263-121418264	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191599425	chr8:121418355-121418356	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561865914	chr8:121418377-121418378	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555658562	chr8:121418395-121418396	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538866566	chr8:121418444-121418445	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528956643	chr8:121418450-121418451	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553812740	chr8:121418494-121418495	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143527351	chr8:121418507-121418508	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536779418	chr8:121418511-121418512	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374727963	chr8:121418570-121418571	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182934349	chr8:121418633-121418634	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534622717	chr8:121418691-121418692	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543312931	chr8:121418711-121418712	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116631101	chr8:121418715-121418716	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369186538	chr8:121418794-121418795	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201496463	chr8:121418795-121418796	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs398009615	chr8:121418824-121418825	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577085594	chr8:121418843-121418844	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541245293	chr8:121418903-121418904	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546044025	chr8:121418918-121418919	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6998437	chr8:121418944-121418945	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs371873821	chr8:121418994-121418995	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529733335	chr8:121419080-121419081	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375097770	chr8:121419148-121419149	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369917140	chr8:121419207-121419208	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141637858	chr8:121419208-121419209	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372095034	chr8:121419223-121419224	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374978652	chr8:121419262-121419263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77110024	chr8:121419304-121419305	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550030934	chr8:121419309-121419310	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147074860	chr8:121419311-121419312	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188781766	chr8:121419324-121419325	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538978792	chr8:121419386-121419387	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547562140	chr8:121419390-121419391	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566308139	chr8:121419437-121419438	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536339306	chr8:121419449-121419450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555054303	chr8:121419479-121419480	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576311953	chr8:121419531-121419532	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559136259	chr8:121419591-121419592	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10098378	chr8:121419596-121419597	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs551681984	chr8:121419602-121419603	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370454460	chr8:121419603-121419604	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577195426	chr8:121419630-121419631	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569935030	chr8:121419639-121419640	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs76497291	chr8:121419666-121419667	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76805101	chr8:121419681-121419682	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191435596	chr8:121419682-121419683	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs28606064	chr8:121419685-121419686	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183269529	chr8:121419692-121419693	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
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:145 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121402000-121456400	Weak transcription	Small Intestine	intestine
2	chr8:121404000-121433400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:121404400-121421400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr8:121404400-121454400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr8:121404600-121456000	Weak transcription	Colonic Mucosa	Colon
6	chr8:121405000-121456000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr8:121405600-121455600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr8:121407800-121424600	Weak transcription	Brain Angular Gyrus	brain
9	chr8:121407800-121442800	Weak transcription	NHEK	skin
10	chr8:121408200-121450400	Weak transcription	Psoas Muscle	Psoas
11	chr8:121408400-121442800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr8:121409800-121446200	Weak transcription	Right Ventricle	heart
13	chr8:121410200-121456400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr8:121410200-121456600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr8:121410600-121423000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:121410600-121423000	Weak transcription	Thymus	Thymus
17	chr8:121410600-121456600	Weak transcription	Gastric	stomach
18	chr8:121410600-121456600	Weak transcription	Spleen	Spleen
19	chr8:121411000-121443600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr8:121411000-121456000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr8:121412400-121423000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr8:121412600-121450400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr8:121412800-121423400	Weak transcription	Brain Anterior Caudate	brain
24	chr8:121412800-121430600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr8:121412800-121456000	Weak transcription	Fetal Brain Male	brain
26	chr8:121413400-121428400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr8:121413400-121428600	Strong transcription	Dnd41	blood
28	chr8:121413600-121454800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr8:121414000-121422800	Weak transcription	Fetal Muscle Trunk	muscle
30	chr8:121414400-121424600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr8:121414600-121421400	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr8:121414600-121432400	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr8:121414800-121419800	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr8:121414800-121426200	Strong transcription	Primary B cells from peripheral blood	blood
35	chr8:121415000-121423000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr8:121415400-121420600	Weak transcription	Primary hematopoietic stem cells	blood
37	chr8:121415800-121418400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr8:121415800-121419800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr8:121415800-121420600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:121415800-121421000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr8:121415800-121421400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr8:121415800-121422800	Weak transcription	Lung	lung
43	chr8:121415800-121423000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr8:121415800-121423600	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr8:121415800-121424800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr8:121415800-121424800	Weak transcription	Left Ventricle	heart
47	chr8:121415800-121425600	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr8:121415800-121436600	Weak transcription	Fetal Muscle Leg	muscle
49	chr8:121415800-121443400	Weak transcription	Brain Germinal Matrix	brain
50	chr8:121415800-121450200	Weak transcription	Pancreas	Pancrea

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