Variant report

Variant	nsv524750
Chromosome Location	chr8:120990068-120993134
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:120885927..120888357-chr8:120992198..120996692,5	MCF-7	breast:
2	chr8:120992487..120993376-chr8:121072550..121073500,6	MCF-7	breast:
3	chr8:120867407..120870404-chr8:120990220..120992815,2	MCF-7	breast:
4	chr8:120992589..120993124-chr8:121096758..121097431,2	MCF-7	breast:
5	chr8:120981030..120983921-chr8:120987926..120990763,2	K562	blood:
6	chr8:120884447..120887297-chr8:120988136..120991127,2	MCF-7	breast:
7	chr8:120886491..120887260-chr8:120992637..120993679,3	MCF-7	breast:
8	chr8:120985045..120986649-chr8:120987660..120991345,3	MCF-7	breast:
9	chr8:120991897..120993934-chr8:121016274..121018192,2	MCF-7	breast:
10	chr8:120992148..120993125-chr8:121096415..121097113,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000136982	chromatin interactions
ENSG00000155792	chromatin interactions
ENSG00000245330	chromatin interactions

Extended variants
information (count: 114 )
Associated
traits (count: 140 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs908945	chr8:120990068-120990069	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs532934901	chr8:120990079-120990080	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs540862207	chr8:120990110-120990111	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs558895364	chr8:120990112-120990113	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs145260435	chr8:120990289-120990290	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs114986979	chr8:120990311-120990312	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs368302431	chr8:120990325-120990326	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs546781798	chr8:120990353-120990354	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs76139219	chr8:120990363-120990364	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs146502467	chr8:120990393-120990394	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs141163359	chr8:120990412-120990413	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs570437173	chr8:120990435-120990436	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs144767687	chr8:120990444-120990445	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs1106482	chr8:120990447-120990448	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs1106481	chr8:120990455-120990456	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs536904121	chr8:120990510-120990511	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs138609881	chr8:120990578-120990579	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs555015979	chr8:120990590-120990591	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs576475685	chr8:120990658-120990659	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs543825146	chr8:120990738-120990739	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs184551120	chr8:120990770-120990771	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs114933942	chr8:120990781-120990782	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs149583336	chr8:120990910-120990911	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs73705862	chr8:120990920-120990921	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs143276233	chr8:120991028-120991029	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs189308945	chr8:120991127-120991128	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs11987040	chr8:120991150-120991151	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs36212257	chr8:120991185-120991186	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs137973213	chr8:120991187-120991188	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs72673656	chr8:120991190-120991191	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs66893819	chr8:120991191-120991192	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs76382494	chr8:120991201-120991202	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs71895589	chr8:120991209-120991210	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs571631050	chr8:120991217-120991218	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs148329680	chr8:120991219-120991220	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs181970792	chr8:120991292-120991293	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs117999577	chr8:120991322-120991323	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs113893228	chr8:120991326-120991327	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs116169142	chr8:120991327-120991328	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs536964874	chr8:120991328-120991329	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs575719472	chr8:120991381-120991382	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs536428190	chr8:120991400-120991401	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs372794152	chr8:120991403-120991404	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs555326828	chr8:120991420-120991421	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs142959174	chr8:120991483-120991484	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs147457380	chr8:120991512-120991513	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs184343925	chr8:120991573-120991574	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs35767723	chr8:120991643-120991644	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs541133886	chr8:120991660-120991661	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs553155553	chr8:120991661-120991662	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:140)

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
Oral squamous cell carcinoma	21853135	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	22341455	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:191 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120977800-120994600	Weak transcription	Fetal Lung	lung
2	chr8:120978000-120994800	Weak transcription	Esophagus	oesophagus
3	chr8:120978000-120994800	Weak transcription	Right Ventricle	heart
4	chr8:120978000-121013600	Weak transcription	Gastric	stomach
5	chr8:120978400-120993200	Weak transcription	Primary T cells from cord blood	blood
6	chr8:120978400-120993200	Weak transcription	Brain Anterior Caudate	brain
7	chr8:120979000-120990600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:120979400-120994800	Weak transcription	Left Ventricle	heart
9	chr8:120981600-120992600	Enhancers	Fetal Intestine Large	intestine
10	chr8:120983400-120994800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:120984200-120990200	Weak transcription	Colonic Mucosa	Colon
12	chr8:120984200-120990400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr8:120984600-120990400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:120984600-120990600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:120985600-120996800	Enhancers	Stomach Mucosa	stomach
16	chr8:120986000-120994800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr8:120986200-120990600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:120986200-120994400	Weak transcription	Right Atrium	heart
19	chr8:120986400-120990200	Weak transcription	Brain Hippocampus Middle	brain
20	chr8:120986400-120990200	Weak transcription	Fetal Thymus	thymus
21	chr8:120986400-120990400	Weak transcription	Fetal Stomach	stomach
22	chr8:120986400-120999600	Weak transcription	Spleen	Spleen
23	chr8:120986800-120990400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr8:120987000-120990800	Weak transcription	Adipose Nuclei	Adipose
25	chr8:120987400-120992200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr8:120987600-120990400	Enhancers	Duodenum Mucosa	Duodenum
27	chr8:120987600-120990400	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr8:120987600-120991200	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr8:120987800-120992000	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr8:120988200-120990400	Weak transcription	Placenta	Placenta
31	chr8:120988400-120991200	Enhancers	Liver	Liver
32	chr8:120988400-120991400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr8:120988400-120996800	Enhancers	Fetal Intestine Small	intestine
34	chr8:120988600-120990400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr8:120988600-120991800	Enhancers	Fetal Muscle Leg	muscle
36	chr8:120988800-120990200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr8:120988800-120990400	Enhancers	Stomach Smooth Muscle	stomach
38	chr8:120988800-120990800	Enhancers	Ovary	ovary
39	chr8:120988800-120990800	Enhancers	Pancreas	Pancrea
40	chr8:120988800-120991200	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr8:120988800-120992400	Enhancers	Rectal Smooth Muscle	rectum
42	chr8:120989000-120990200	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr8:120989000-120990400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr8:120989200-120990200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr8:120989200-120990200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr8:120989200-120990200	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr8:120989200-120990400	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr8:120989200-120990400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr8:120989200-120990400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr8:120989200-120990400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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