Variant report

Variant	nsv429940
Chromosome Location	chr8:127881818-127929818
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:26)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:127881390..127882102-chr8:130693928..130694709,3	K562	blood:
2	chr8:127888783..127889396-chr8:128190557..128191077,3	MCF-7	breast:
3	chr8:127889004..127891889-chr8:127895574..127897530,2	K562	blood:
4	chr8:127925433..127928266-chr8:127928542..127930103,2	K562	blood:
5	chr8:127897687..127899780-chr8:128012321..128014197,2	MCF-7	breast:
6	chr8:127888435..127891716-chr8:128747434..128751329,3	MCF-7	breast:
7	chr8:127888564..127889446-chr8:130699431..130700261,2	K562	blood:
8	chr8:127889004..127891889-chr8:127895574..127897530,2	K562	blood:
9	chr8:127836311..127837281-chr8:127888680..127889401,2	MCF-7	breast:
10	chr8:127888513..127889240-chr8:128174738..128175621,2	MCF-7	breast:
11	chr8:127887780..127894023-chr8:128746795..128750796,8	MCF-7	breast:
12	chr8:127887627..127889305-chr8:128171709..128173869,2	MCF-7	breast:
13	chr8:127888555..127889369-chr8:128050671..128051188,2	MCF-7	breast:
14	chr8:127901981..127904471-chr8:127906350..127908238,2	K562	blood:
15	chr8:127890394..127893328-chr8:128049298..128051966,2	MCF-7	breast:
16	chr8:127888650..127889474-chr8:128219262..128219815,3	MCF-7	breast:
17	chr8:127888611..127889740-chr8:128174743..128176385,8	MCF-7	breast:
18	chr8:127925433..127928266-chr8:127928542..127930103,2	K562	blood:
19	chr8:127888573..127889987-chr8:128190304..128191389,7	MCF-7	breast:
20	chr8:127901981..127904471-chr8:127906350..127908238,2	K562	blood:
21	chr8:127928539..127930158-chr8:127931880..127934143,2	K562	blood:
22	chr8:127888486..127889437-chr8:128046877..128047818,8	MCF-7	breast:
23	chr8:127907271..127909489-chr8:128745390..128747673,2	MCF-7	breast:
24	chr8:127836631..127837289-chr8:127881392..127882026,2	MCF-7	breast:
25	chr8:127888960..127889471-chr8:128508382..128509088,2	MCF-7	breast:
26	chr8:127888506..127889510-chr8:128190851..128191526,3	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POU5F1B-2	chr8:127889917-127890077	NONHSAT129013
2	lnc-POU5F1B-2	chr8:127889917-127890035	ENSG00000253438
3	lnc-POU5F1B-2	chr8:127889400-127889489	NONHSAT129013
4	lnc-POU5F1B-2	chr8:127890620-127890725	ENSG00000253438

No data

Variant related genes	Relation type
ENSG00000249375	chromatin interactions
ENSG00000136997	chromatin interactions

Extended variants
information (count: 2022 )
Associated
traits (count: 158 )

Variant overlapped rSNPs/rCNVs (count:2022 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189038002	chr8:127881836-127881837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544199537	chr8:127881844-127881845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563790266	chr8:127881845-127881846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs16901814	chr8:127881952-127881953	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs6985700	chr8:127881974-127881975	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs6986096	chr8:127881989-127881990	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs370659864	chr8:127882040-127882041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528732913	chr8:127882073-127882074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1467193	chr8:127882075-127882076	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs6985873	chr8:127882119-127882120	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs1467192	chr8:127882169-127882170	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs146222072	chr8:127882188-127882189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568147722	chr8:127882189-127882190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1467191	chr8:127882195-127882196	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs553019669	chr8:127882242-127882243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572685214	chr8:127882288-127882289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373464314	chr8:127882304-127882305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11985141	chr8:127882306-127882307	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs554998479	chr8:127882317-127882318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575006615	chr8:127882345-127882346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10102061	chr8:127882371-127882372	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs557731648	chr8:127882382-127882383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11988555	chr8:127882448-127882449	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs10102079	chr8:127882464-127882465	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs560105743	chr8:127882470-127882471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200135621	chr8:127882499-127882500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200900168	chr8:127882500-127882501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147340513	chr8:127882501-127882502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs386413942	chr8:127882502-127882503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs72537292	chr8:127882503-127882504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs61558813	chr8:127882504-127882505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528671249	chr8:127882518-127882519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201968087	chr8:127882534-127882535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548574981	chr8:127882607-127882608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368651800	chr8:127882612-127882613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192026614	chr8:127882622-127882623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527736260	chr8:127882623-127882624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200437693	chr8:127882643-127882644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550840329	chr8:127882660-127882661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570803583	chr8:127882670-127882671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533205114	chr8:127882671-127882672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35695790	chr8:127882673-127882674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs57612714	chr8:127882674-127882675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs386413943	chr8:127882677-127882678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs397955344	chr8:127882678-127882679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13253755	chr8:127882679-127882680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546453740	chr8:127882681-127882682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549498402	chr8:127882695-127882696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566451389	chr8:127882727-127882728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73707716	chr8:127882897-127882898	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:158)

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
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
Acute myeloid leukemia	20729466	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
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
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	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
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Burkitt''s lymphoma	20823134	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Ductal carcinoma	22052326	CNVD
Gastric cancer	18160780	CNVD
Gastric cancer	21635755	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Breast cancer	22048815	CNVD
Colorectal cancer	16912164	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	21148746	CNVD
Lung cancer	21911935	CNVD
Breast cancer	20459607	CNVD
Medulloblastoma	19270706	CNVD
Acute myeloid leukemia	19651601	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	22860045	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Prostate cancer	17217626	CNVD
Cancer	17160897	CNVD
Breast cancer	16497871	CNVD
Colorectal cancer	16882699	CNVD
Cystic fibrosis	19273617	CNVD
Chronic stroke	19622162	CNVD
Chordoma	18071362	CNVD
Breast cancer	17850661	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	16272173	CNVD
Uveal melanoma	20484589	CNVD
Ovarian cancer	20844748	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	16620391	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:452 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:127876600-127886400	Weak transcription	Fetal Muscle Leg	muscle
2	chr8:127878000-127885800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:127878600-127889000	Weak transcription	Right Atrium	heart
4	chr8:127880400-127882400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:127880800-127882400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:127881200-127882400	Enhancers	NHEK	skin
7	chr8:127881400-127882200	Enhancers	HMEC	breast
8	chr8:127881400-127883000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:127881400-127883000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:127881600-127882200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:127881800-127888600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr8:127883000-127883400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr8:127883000-127884600	Enhancers	GM12878-XiMat	blood
14	chr8:127883000-127888400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:127883000-127888600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:127883400-127888800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr8:127883800-127884400	Enhancers	Primary B cells from peripheral blood	blood
18	chr8:127884400-127889000	Weak transcription	Primary B cells from peripheral blood	blood
19	chr8:127885800-127886800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr8:127885800-127887200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:127886000-127887200	Enhancers	Fetal Intestine Large	intestine
22	chr8:127886000-127887200	Enhancers	HepG2	liver
23	chr8:127886000-127887400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:127886200-127886400	Enhancers	Fetal Muscle Trunk	muscle
25	chr8:127886200-127887000	Enhancers	Placenta	Placenta
26	chr8:127886200-127887200	Enhancers	HUVEC	blood vessel
27	chr8:127886400-127887000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr8:127886400-127887200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:127886400-127887200	Enhancers	Fetal Muscle Leg	muscle
30	chr8:127886400-127889200	Weak transcription	Fetal Muscle Trunk	muscle
31	chr8:127886600-127887000	Enhancers	Fetal Lung	lung
32	chr8:127886800-127887000	Enhancers	Fetal Kidney	kidney
33	chr8:127886800-127887200	Enhancers	Fetal Brain Male	brain
34	chr8:127887000-127888800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr8:127887000-127889000	Weak transcription	Placenta	Placenta
36	chr8:127887000-127889200	Weak transcription	Fetal Lung	lung
37	chr8:127887200-127888600	Weak transcription	Fetal Muscle Leg	muscle
38	chr8:127887200-127888600	Weak transcription	HUVEC	blood vessel
39	chr8:127887200-127888800	Weak transcription	Fetal Brain Male	brain
40	chr8:127887200-127889200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr8:127887200-127889200	Weak transcription	Fetal Intestine Large	intestine
42	chr8:127887200-127889200	Weak transcription	HepG2	liver
43	chr8:127887400-127887600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr8:127887400-127888600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr8:127887800-127889000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr8:127888400-127889200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr8:127888600-127888800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr8:127888600-127889000	Enhancers	A549	lung
49	chr8:127888600-127889200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr8:127888600-127889200	Enhancers	HSMMtube	muscle

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