Variant report

Variant	nsv527372
Chromosome Location	chr8:125902415-125905658
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125882022..125884684-chr8:125903554..125906736,3	K562	blood:
2	chr8:125900667..125902302-chr8:125902732..125904411,2	MCF-7	breast:
3	chr8:125900915..125903416-chr8:125906634..125910674,4	K562	blood:
4	chr8:125545642..125547249-chr8:125900302..125903286,2	MCF-7	breast:
5	chr8:125893623..125896589-chr8:125899803..125902568,2	MCF-7	breast:
6	chr8:125901791..125903358-chr8:125908573..125910554,2	K562	blood:
7	chr8:125882022..125884684-chr8:125903554..125905435,2	K562	blood:
8	chr8:125826377..125828891-chr8:125902425..125904376,2	K562	blood:
9	chr8:125900299..125904105-chr8:125905303..125908707,4	MCF-7	breast:
10	chr8:125903181..125907429-chr8:125925929..125929993,4	K562	blood:
11	chr8:125863185..125866167-chr8:125900364..125902687,2	K562	blood:
12	chr8:125900299..125904105-chr8:125905303..125908707,4	MCF-7	breast:
13	chr8:125550619..125552268-chr8:125900750..125903343,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255491	chromatin interactions
ENSG00000147687	chromatin interactions
ENSG00000147684	chromatin interactions

Extended variants
information (count: 132 )
Associated
traits (count: 139 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6470317	chr8:125902415-125902416	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542663626	chr8:125902433-125902434	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs368099918	chr8:125902444-125902445	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs577960842	chr8:125902446-125902447	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs576216812	chr8:125902462-125902463	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs7834577	chr8:125902509-125902510	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs117285872	chr8:125902581-125902582	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs572235670	chr8:125902618-125902619	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs189778331	chr8:125902642-125902643	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs532632752	chr8:125902651-125902652	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs560865815	chr8:125902652-125902653	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs142553799	chr8:125902688-125902689	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs548968966	chr8:125902729-125902730	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs562582920	chr8:125902785-125902786	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs146846587	chr8:125902798-125902799	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs551877585	chr8:125902846-125902847	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs182432007	chr8:125902891-125902892	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs374459085	chr8:125902897-125902898	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs534417765	chr8:125903004-125903005	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs368055105	chr8:125903025-125903026	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs567960984	chr8:125903029-125903030	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs536903901	chr8:125903059-125903060	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs76796162	chr8:125903138-125903139	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs187872795	chr8:125903180-125903181	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs6470318	chr8:125903222-125903223	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs546769544	chr8:125903244-125903245	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs369513397	chr8:125903248-125903249	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs192097365	chr8:125903264-125903265	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs558655780	chr8:125903281-125903282	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs183922858	chr8:125903352-125903353	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs188519812	chr8:125903360-125903361	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs541244835	chr8:125903462-125903463	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs560703682	chr8:125903479-125903480	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs13262017	chr8:125903495-125903496	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs192944325	chr8:125903503-125903504	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs115223200	chr8:125903525-125903526	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs182478710	chr8:125903530-125903531	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs551449826	chr8:125903531-125903532	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs565399337	chr8:125903569-125903570	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs36022319	chr8:125903575-125903576	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs369026815	chr8:125903586-125903587	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs567006507	chr8:125903596-125903597	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs567902208	chr8:125903612-125903613	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs368205002	chr8:125903632-125903633	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs7010284	chr8:125903666-125903667	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs7010151	chr8:125903667-125903668	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs538645429	chr8:125903677-125903678	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs187169580	chr8:125903711-125903712	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs572109601	chr8:125903722-125903723	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs7464449	chr8:125903723-125903724	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:139)

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
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
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
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16461302	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Burkitt''s lymphoma	20823134	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Breast cancer	21611746	CNVD
Ductal carcinoma	22052326	CNVD
Gastric cancer	18160780	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125900000-125903200	Enhancers	HMEC	breast
2	chr8:125900200-125902600	Enhancers	Esophagus	oesophagus
3	chr8:125900200-125903000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:125900200-125903200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:125900600-125903200	Weak transcription	Right Atrium	heart
6	chr8:125901600-125906000	Weak transcription	K562	blood
7	chr8:125901800-125902800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr8:125902200-125903000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:125902400-125902600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:125902400-125902800	Enhancers	Left Ventricle	heart
11	chr8:125902400-125903000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:125902400-125903000	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr8:125902400-125903000	Flanking Active TSS	NHEK	skin
14	chr8:125902400-125903000	Enhancers	Osteobl	bone
15	chr8:125902400-125903200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:125902600-125903000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:125902600-125903000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr8:125902600-125903000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr8:125902600-125903000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:125902600-125903000	Enhancers	Brain Angular Gyrus	brain
21	chr8:125902600-125903000	Enhancers	Brain Hippocampus Middle	brain
22	chr8:125902800-125903000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr8:125902800-125905000	Weak transcription	Left Ventricle	heart
24	chr8:125903000-125905600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:125903000-125907800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:125903000-125908000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr8:125903000-125908000	Weak transcription	NHEK	skin
28	chr8:125903000-125908200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr8:125903000-125911000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:125903200-125908400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr8:125905000-125905200	Enhancers	Left Ventricle	heart
32	chr8:125905600-125906200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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