Variant report

Variant	nsv891336
Chromosome Location	chr8:114667112-114753522
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	chr8:114666240..114668992-chr8:114678548..114680585,2	K562	blood:
2	chr8:114728056..114730786-chr8:114735490..114737141,2	MCF-7	breast:
3	chr8:114666240..114668992-chr8:114678548..114680585,2	K562	blood:
4	chr8:114674540..114677133-chr8:114678204..114681093,2	MCF-7	breast:
5	chr8:114726767..114728382-chr8:114731029..114732643,2	K562	blood:
6	chr8:114728056..114730786-chr8:114735490..114737141,2	MCF-7	breast:
7	chr8:114726767..114728382-chr8:114731029..114732643,2	K562	blood:
8	chr8:114674540..114677133-chr8:114678204..114681093,2	MCF-7	breast:

No data

Extended variants
information (count: 974 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:974 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527743930	chr8:114668686-114668687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147029137	chr8:114668721-114668722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs371410252	chr8:114668725-114668726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191707961	chr8:114668730-114668731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148091579	chr8:114668759-114668760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530089943	chr8:114668768-114668769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550254648	chr8:114668785-114668786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs76923439	chr8:114668797-114668798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537405198	chr8:114668835-114668836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547927443	chr8:114668902-114668903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535406382	chr8:114668945-114668946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555491445	chr8:114668971-114668972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572158522	chr8:114668975-114668976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540721699	chr8:114668982-114668983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557479823	chr8:114669036-114669037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs77070180	chr8:114669046-114669047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542978598	chr8:114669082-114669083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563157693	chr8:114669088-114669089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531982660	chr8:114669097-114669098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542165915	chr8:114669169-114669170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79689001	chr8:114669203-114669204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs527925956	chr8:114669204-114669205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141858873	chr8:114669205-114669206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570991713	chr8:114669207-114669208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552477633	chr8:114669228-114669229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs369596263	chr8:114669266-114669267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs150636038	chr8:114669271-114669272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184295443	chr8:114669275-114669276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569953625	chr8:114669286-114669287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535701166	chr8:114669352-114669353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565947651	chr8:114669381-114669382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573517353	chr8:114671407-114671408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs372608462	chr8:114671424-114671425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs537784721	chr8:114671425-114671426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555774084	chr8:114671427-114671428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572885498	chr8:114671441-114671442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs376872774	chr8:114671465-114671466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs150163454	chr8:114671466-114671467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187467156	chr8:114671477-114671478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530671271	chr8:114671478-114671479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs1597862	chr8:114671487-114671488	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs560917552	chr8:114671514-114671515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs374640647	chr8:114671519-114671520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs149138360	chr8:114671524-114671525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376394125	chr8:114671554-114671555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs734621	chr8:114671631-114671632	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs734622	chr8:114671682-114671683	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs550389936	chr8:114671691-114671692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192318150	chr8:114671718-114671719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs568842501	chr8:114671729-114671730	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Melanoma	18172304	CNVD
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
Cancer	20164919	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
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	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
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Schizophrenia	20967226	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:114668600-114669400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:114668800-114669400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:114671400-114674200	Enhancers	Primary B cells from peripheral blood	blood
4	chr8:114671600-114672600	Enhancers	Primary B cells from cord blood	blood
5	chr8:114672600-114673600	Weak transcription	Primary B cells from cord blood	blood
6	chr8:114673600-114674400	Enhancers	Primary B cells from cord blood	blood
7	chr8:114674200-114676600	Weak transcription	Primary B cells from peripheral blood	blood
8	chr8:114676600-114677200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
9	chr8:114676800-114677200	ZNF genes & repeats	Dnd41	blood
10	chr8:114677200-114677800	Weak transcription	Primary B cells from peripheral blood	blood
11	chr8:114677800-114678200	Enhancers	Primary B cells from peripheral blood	blood
12	chr8:114677800-114678200	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr8:114696000-114697800	Active TSS	Brain Anterior Caudate	brain
14	chr8:114696400-114697000	Enhancers	Primary B cells from cord blood	blood
15	chr8:114696400-114697200	Enhancers	GM12878-XiMat	blood
16	chr8:114696800-114698200	Enhancers	Primary B cells from peripheral blood	blood
17	chr8:114697000-114697200	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr8:114697000-114697400	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr8:114697000-114698200	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr8:114697200-114698000	Flanking Active TSS	GM12878-XiMat	blood
21	chr8:114697200-114698000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr8:114697400-114698600	Enhancers	Primary B cells from cord blood	blood
23	chr8:114698000-114698200	Enhancers	GM12878-XiMat	blood
24	chr8:114698000-114698200	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr8:114698200-114703400	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr8:114698200-114703600	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr8:114703400-114704800	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr8:114703600-114704800	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr8:114703600-114705000	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr8:114704200-114704600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:114706600-114706800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr8:114706600-114706800	ZNF genes & repeats	Esophagus	oesophagus
33	chr8:114706600-114706800	ZNF genes & repeats	Pancreas	Pancrea
34	chr8:114724200-114724400	Enhancers	Lung	lung
35	chr8:114739400-114739800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr8:114746200-114746600	Enhancers	Dnd41	blood
37	chr8:114746400-114746600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr8:114746600-114746800	Enhancers	Primary hematopoietic stem cells	blood
39	chr8:114746600-114746800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr8:114746600-114747400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:114746600-114747400	Flanking Active TSS	Dnd41	blood
42	chr8:114746800-114747200	Active TSS	Primary hematopoietic stem cells	blood
43	chr8:114746800-114747200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr8:114747200-114747400	Enhancers	Primary hematopoietic stem cells	blood
45	chr8:114747200-114747400	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr8:114747200-114747400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr8:114747400-114747600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr8:114747400-114747600	Enhancers	Dnd41	blood
49	chr8:114747400-114749800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr8:114747400-114752200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links