Variant report

Variant	nsv981975
Chromosome Location	chr8:117739483-117741262
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:117739444..117740964-chr8:117750827..117752359,2	K562	blood:
2	chr8:117735311..117740045-chr8:117740226..117743682,7	K562	blood:
3	chr8:117735115..117737954-chr8:117739728..117741269,2	MCF-7	breast:
4	chr8:117735311..117740045-chr8:117740226..117743682,7	K562	blood:
5	chr8:117726723..117730275-chr8:117737114..117740946,5	K562	blood:
6	chr6:134438581..134440830-chr8:117739985..117742395,2	MCF-7	breast:
7	chr8:117737571..117740694-chr8:117744182..117746515,3	MCF-7	breast:
8	chr8:117737378..117741486-chr8:117765387..117769431,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000147677	chromatin interactions

Extended variants
information (count: 56 )
Associated
traits (count: 143 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568615188	chr8:117739499-117739500	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs535852007	chr8:117739520-117739521	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs116782961	chr8:117739608-117739609	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs569381876	chr8:117739645-117739646	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs539921234	chr8:117739684-117739685	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs558824484	chr8:117739685-117739686	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs527944834	chr8:117739724-117739725	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs577125237	chr8:117739852-117739853	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs545057760	chr8:117739853-117739854	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs148262027	chr8:117739877-117739878	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs141847836	chr8:117739932-117739933	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs574602587	chr8:117739993-117739994	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs149374487	chr8:117740117-117740118	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs73701462	chr8:117740121-117740122	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs372325595	chr8:117740122-117740123	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs563133184	chr8:117740144-117740145	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs575325170	chr8:117740168-117740169	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs115499614	chr8:117740171-117740172	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs563811076	chr8:117740219-117740220	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs527708967	chr8:117740270-117740271	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs541299675	chr8:117740290-117740291	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs546751435	chr8:117740304-117740305	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs144958046	chr8:117740370-117740371	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs529560253	chr8:117740375-117740376	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs550983315	chr8:117740385-117740386	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs73701463	chr8:117740451-117740452	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs539806558	chr8:117740491-117740492	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs138799902	chr8:117740494-117740495	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs372657326	chr8:117740498-117740499	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs566921962	chr8:117740526-117740527	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs200027916	chr8:117740529-117740530	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs397891944	chr8:117740530-117740531	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs78059659	chr8:117740588-117740589	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs556737042	chr8:117740629-117740630	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs552882345	chr8:117740675-117740676	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs369338800	chr8:117740713-117740714	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs574720839	chr8:117740740-117740741	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs185748744	chr8:117740742-117740743	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs190109617	chr8:117740743-117740744	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs10094452	chr8:117740841-117740842	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs182390844	chr8:117740868-117740869	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs16888709	chr8:117740871-117740872	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs532270453	chr8:117740877-117740878	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs572595555	chr8:117740886-117740887	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs540473112	chr8:117740888-117740889	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs562122493	chr8:117740907-117740908	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs142072830	chr8:117740942-117740943	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs187735216	chr8:117740950-117740951	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs563165484	chr8:117740988-117740989	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs146329693	chr8:117741102-117741103	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:143)

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
Breast cancer	17603634	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	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
Chronic myeloid leukemia	21384125	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	20164920	CNVD
Breast cancer	20932292	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	22341455	CNVD
Acute myeloid leukemia	17268525	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	19204574	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
Oral squamous cell carcinoma	21853135	CNVD
Multiple myeloma	17550852	CNVD
Cancer	20164919	CNVD
Lung adenocarcinoma	21935476	CNVD
Colorectal cancer	21645411	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:189 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117722000-117740800	Weak transcription	NHLF	lung
2	chr8:117722600-117740800	Weak transcription	HSMMtube	muscle
3	chr8:117728000-117740800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr8:117728000-117740800	Weak transcription	Osteobl	bone
5	chr8:117728600-117740400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr8:117731400-117740200	ZNF genes & repeats	GM12878-XiMat	blood
7	chr8:117733000-117739800	Weak transcription	Fetal Heart	heart
8	chr8:117733000-117740800	Weak transcription	NHDF-Ad	bronchial
9	chr8:117733000-117742400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr8:117733600-117740800	Weak transcription	Aorta	Aorta
11	chr8:117733600-117740800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr8:117733600-117741000	Weak transcription	HUVEC	blood vessel
13	chr8:117733600-117742400	Weak transcription	Right Ventricle	heart
14	chr8:117733600-117745000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr8:117733600-117745200	Weak transcription	Brain Anterior Caudate	brain
16	chr8:117733600-117766600	Weak transcription	Fetal Lung	lung
17	chr8:117733600-117766800	Weak transcription	Adipose Nuclei	Adipose
18	chr8:117734000-117739800	Weak transcription	Colonic Mucosa	Colon
19	chr8:117734000-117740600	Weak transcription	HMEC	breast
20	chr8:117734000-117742200	Weak transcription	NH-A	brain
21	chr8:117734000-117742400	Weak transcription	Esophagus	oesophagus
22	chr8:117734000-117747800	Weak transcription	Lung	lung
23	chr8:117734200-117752400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:117734400-117740800	Weak transcription	Ovary	ovary
25	chr8:117734400-117742400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr8:117734400-117742400	Weak transcription	Gastric	stomach
27	chr8:117734400-117742400	Weak transcription	Pancreas	Pancrea
28	chr8:117734400-117742800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr8:117734400-117762000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr8:117734400-117766800	Weak transcription	Fetal Stomach	stomach
31	chr8:117734600-117740400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr8:117734600-117740600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:117734600-117741800	Weak transcription	Brain Germinal Matrix	brain
34	chr8:117734600-117742000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr8:117734600-117742400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr8:117734600-117742400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr8:117734600-117742400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr8:117734600-117742400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr8:117734600-117742400	Weak transcription	Left Ventricle	heart
40	chr8:117734600-117742400	Weak transcription	Spleen	Spleen
41	chr8:117734600-117742600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:117734600-117743400	Weak transcription	Brain Cingulate Gyrus	brain
43	chr8:117734600-117746800	Weak transcription	Thymus	Thymus
44	chr8:117734600-117766200	Weak transcription	Fetal Muscle Leg	muscle
45	chr8:117734600-117766400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr8:117734600-117766800	Weak transcription	Fetal Intestine Small	intestine
47	chr8:117734600-117767200	Weak transcription	Fetal Muscle Trunk	muscle
48	chr8:117734800-117740800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr8:117734800-117740800	Weak transcription	NHEK	skin
50	chr8:117734800-117741200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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