Variant report

Variant	nsv967630
Chromosome Location	chr8:130710443-130711212
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:130709112..130710957-chr8:130718766..130720271,2	K562	blood:
2	chr8:130699826..130701651-chr8:130708566..130712426,4	K562	blood:
3	chr8:130710996..130713027-chr8:130721393..130723665,2	K562	blood:
4	chr8:130707905..130710506-chr8:130721790..130724532,3	K562	blood:
5	chr8:130700584..130702961-chr8:130710020..130711748,2	MCF-7	breast:
6	chr8:130698168..130701867-chr8:130706682..130711085,4	MCF-7	breast:
7	chr8:130547962..130549604-chr8:130709178..130711041,2	MCF-7	breast:
8	chr8:130709158..130713272-chr8:130716107..130718644,3	K562	blood:
9	chr8:130709015..130711494-chr8:130712126..130713771,2	K562	blood:
10	chr8:130001691..130004294-chr8:130710957..130713827,2	K562	blood:
11	chr8:128747402..128749351-chr8:130710399..130712084,2	K562	blood:
12	chr8:130703853..130706502-chr8:130708490..130712451,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000136997	chromatin interactions

Extended variants
information (count: 24 )
Associated
traits (count: 154 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542178856	chr8:130710495-130710496	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs187897106	chr8:130710561-130710562	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs572167074	chr8:130710564-130710565	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs540039311	chr8:130710621-130710622	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs4733723	chr8:130710638-130710639	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs145538433	chr8:130710678-130710679	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs73401546	chr8:130710692-130710693	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs1481767	chr8:130710714-130710715	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs529676862	chr8:130710772-130710773	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs191247742	chr8:130710786-130710787	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs114619021	chr8:130710922-130710923	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs527380180	chr8:130710931-130710932	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs1010255	chr8:130710946-130710947	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs118172328	chr8:130710947-130710948	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs538560126	chr8:130710949-130710950	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs376046721	chr8:130710952-130710953	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs556600694	chr8:130710964-130710965	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs568704001	chr8:130711040-130711041	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs183794747	chr8:130711049-130711050	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs186665489	chr8:130711050-130711051	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs546127020	chr8:130711058-130711059	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs6998925	chr8:130711062-130711063	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs545883192	chr8:130711137-130711138	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs192844518	chr8:130711150-130711151	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:154)

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
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
Malignant melanoma	17260012	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Sezary syndrome	18413736	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
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21611746	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130705800-130713600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr8:130707200-130713200	Weak transcription	Fetal Lung	lung
3	chr8:130708200-130720200	Weak transcription	Esophagus	oesophagus
4	chr8:130709400-130710800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:130709400-130710800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:130709400-130710800	Enhancers	HSMM	muscle
7	chr8:130709400-130710800	Enhancers	NH-A	brain
8	chr8:130709400-130710800	Enhancers	NHEK	skin
9	chr8:130709400-130710800	Enhancers	Osteobl	bone
10	chr8:130709400-130711400	Enhancers	A549	lung
11	chr8:130709600-130710600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:130709600-130710800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:130709600-130710800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr8:130709600-130710800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:130709600-130710800	Enhancers	HMEC	breast
16	chr8:130709600-130710800	Enhancers	NHDF-Ad	bronchial
17	chr8:130709600-130710800	Enhancers	NHLF	lung
18	chr8:130709600-130711600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:130709800-130710600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:130709800-130710600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:130709800-130710600	Enhancers	Placenta Amnion	Placenta Amnion
22	chr8:130709800-130710800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:130709800-130710800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr8:130709800-130710800	Enhancers	HSMMtube	muscle
25	chr8:130709800-130711600	Enhancers	K562	blood
26	chr8:130710400-130715400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr8:130710600-130713800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:130710600-130716400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:130710600-130719800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:130710800-130714000	Weak transcription	HSMM	muscle
31	chr8:130710800-130716000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr8:130710800-130719200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:130710800-130719200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:130710800-130719400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr8:130710800-130719800	Weak transcription	NHLF	lung
36	chr8:130710800-130720000	Weak transcription	HSMMtube	muscle

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