Variant report

Variant	nsv612113
Chromosome Location	chr8:121616345-121635396
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:120879496..120880083-chr8:121617650..121618484,2	K562	blood:
2	chr8:121621876..121624440-chr8:121626414..121628538,2	MCF-7	breast:
3	chr8:112248281..112249195-chr8:121617648..121618574,4	MCF-7	breast:
4	chr8:121619967..121621577-chr8:121621884..121624584,2	MCF-7	breast:
5	chr8:121608620..121610687-chr8:121614325..121616979,2	K562	blood:
6	chr8:121621581..121622349-chr8:121950956..121951927,3	MCF-7	breast:
7	chr8:121628159..121631762-chr8:121633780..121636360,3	K562	blood:
8	chr7:1451932..1452733-chr8:121617665..121618450,2	MCF-7	breast:
9	chr8:112248686..112249491-chr8:121617700..121618578,2	MCF-7	breast:
10	chr8:111842460..111843306-chr8:121617683..121618475,2	MCF-7	breast:
11	chr8:121456024..121458883-chr8:121625908..121628453,2	K562	blood:
12	chr8:121621876..121624440-chr8:121626414..121628538,2	MCF-7	breast:
13	chr8:121464608..121465642-chr8:121617640..121618545,4	MCF-7	breast:
14	chr8:121619967..121621577-chr8:121621884..121624584,2	MCF-7	breast:
15	chr8:112152279..112153092-chr8:121617588..121618297,2	MCF-7	breast:
16	chr8:121464599..121465793-chr8:121617159..121618618,14	MCF-7	breast:
17	chr8:121628159..121631762-chr8:121633780..121636360,3	K562	blood:
18	chr8:112112573..112113471-chr8:121617637..121618420,2	MCF-7	breast:
19	chr8:121456487..121458997-chr8:121617348..121619898,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253103	chromatin interactions
ENSG00000172167	chromatin interactions
ENSG00000172172	chromatin interactions

Extended variants
information (count: 708 )
Associated
traits (count: 141 )

Variant overlapped rSNPs/rCNVs (count:708 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4870736	chr8:121616345-121616346	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573897572	chr8:121616350-121616351	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7017780	chr8:121616369-121616370	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs576375519	chr8:121616380-121616381	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543370863	chr8:121616441-121616442	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558532069	chr8:121616488-121616489	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147200246	chr8:121616528-121616529	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540940382	chr8:121616535-121616536	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111902033	chr8:121616565-121616566	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576352789	chr8:121616579-121616580	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529874188	chr8:121616590-121616591	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10111936	chr8:121616599-121616600	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs563198462	chr8:121616618-121616619	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530636425	chr8:121616627-121616628	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552177002	chr8:121616635-121616636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570477526	chr8:121616658-121616659	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532839661	chr8:121616660-121616661	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs60947708	chr8:121616698-121616699	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs80086965	chr8:121616711-121616712	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527280276	chr8:121616762-121616763	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536485102	chr8:121616763-121616764	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555154250	chr8:121616765-121616766	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551884156	chr8:121616790-121616791	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370786767	chr8:121616818-121616819	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148533705	chr8:121616821-121616822	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142891457	chr8:121616837-121616838	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558485381	chr8:121616844-121616845	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375291239	chr8:121616866-121616867	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576857866	chr8:121616880-121616881	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540903550	chr8:121616931-121616932	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189863669	chr8:121616943-121616944	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531555025	chr8:121616950-121616951	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574688227	chr8:121616963-121616964	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541615934	chr8:121616978-121616979	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565387893	chr8:121616984-121616985	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530589334	chr8:121617019-121617020	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116911797	chr8:121617208-121617209	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs61371861	chr8:121617211-121617212	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116017993	chr8:121617234-121617235	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs13249701	chr8:121617288-121617289	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs368088786	chr8:121617317-121617318	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs4514023	chr8:121617318-121617319	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs566200733	chr8:121617319-121617320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530423704	chr8:121617350-121617351	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs4338145	chr8:121617359-121617360	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs62526695	chr8:121617419-121617420	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs550253437	chr8:121617446-121617447	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs151065450	chr8:121617455-121617456	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs543473145	chr8:121617567-121617568	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs555483739	chr8:121617578-121617579	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	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:228 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121587200-121623000	Weak transcription	Fetal Intestine Small	intestine
2	chr8:121587800-121640600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr8:121588200-121642400	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr8:121588600-121636600	Weak transcription	Primary B cells from cord blood	blood
5	chr8:121601200-121623200	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr8:121602000-121627600	Weak transcription	Aorta	Aorta
7	chr8:121603200-121626400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr8:121605800-121644400	Weak transcription	Gastric	stomach
9	chr8:121606200-121626200	Weak transcription	HSMMtube	muscle
10	chr8:121607400-121623200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr8:121607600-121643000	Weak transcription	Fetal Intestine Large	intestine
12	chr8:121608400-121618600	Strong transcription	HepG2	liver
13	chr8:121609600-121641000	Weak transcription	Lung	lung
14	chr8:121609800-121629000	Weak transcription	Fetal Muscle Leg	muscle
15	chr8:121609800-121629000	Weak transcription	Fetal Stomach	stomach
16	chr8:121610200-121623000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:121610400-121627400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr8:121610600-121619800	Weak transcription	Primary T cells from cord blood	blood
19	chr8:121610800-121629800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr8:121611400-121624400	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr8:121612800-121619800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:121613200-121621600	Weak transcription	Spleen	Spleen
23	chr8:121613200-121622800	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr8:121613200-121623000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:121613200-121668000	Weak transcription	Pancreas	Pancrea
26	chr8:121613400-121617600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr8:121613400-121617600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:121613400-121617600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:121613400-121637200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:121614200-121618000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:121614600-121617400	Weak transcription	Osteobl	bone
32	chr8:121614800-121617400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:121614800-121617400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:121614800-121617400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr8:121614800-121617600	Weak transcription	NHLF	lung
36	chr8:121614800-121627600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:121615000-121617400	Weak transcription	NHDF-Ad	bronchial
38	chr8:121615400-121624400	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr8:121615600-121616600	Strong transcription	Liver	Liver
40	chr8:121615800-121616600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr8:121616000-121637200	Weak transcription	HSMM	muscle
42	chr8:121616600-121621600	Weak transcription	Liver	Liver
43	chr8:121616600-121639000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr8:121616800-121624400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr8:121617400-121618000	Enhancers	Osteobl	bone
46	chr8:121617400-121618200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:121617400-121618200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr8:121617400-121618400	Enhancers	NHDF-Ad	bronchial
49	chr8:121617400-121619000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr8:121617600-121618000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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