Variant report

Variant	nsv526687
Chromosome Location	chr8:6287342-6291524
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:6286838..6288405-chr8:6317627..6319306,2	K562	blood:
2	chr8:6283795..6285745-chr8:6287831..6290125,2	K562	blood:
3	chr8:6280717..6283066-chr8:6285737..6287533,2	K562	blood:
4	chr8:6285464..6288077-chr8:6414656..6417304,2	K562	blood:
5	chr8:6286039..6288419-chr8:6293741..6296990,3	K562	blood:
6	chr8:6286384..6290104-chr8:6563339..6566818,4	MCF-7	breast:
7	chr8:6285374..6287527-chr8:6566715..6569546,2	K562	blood:
8	chr8:6286159..6289308-chr8:6294471..6296990,3	K562	blood:
9	chr8:6280318..6283443-chr8:6285224..6287821,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000155189	chromatin interactions
ENSG00000249898	chromatin interactions

Extended variants
information (count: 260 )
Associated
traits (count: 137 )

Variant overlapped rSNPs/rCNVs (count:260 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs963754	chr8:6287342-6287343	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs139681590	chr8:6287367-6287368	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs552483394	chr8:6287375-6287376	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs370134085	chr8:6287390-6287391	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs149784921	chr8:6287394-6287395	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs569983499	chr8:6287407-6287408	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs535390486	chr8:6287422-6287423	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs555599390	chr8:6287461-6287462	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs572126252	chr8:6287465-6287466	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs540999720	chr8:6287475-6287476	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs557857858	chr8:6287482-6287483	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs185808019	chr8:6287493-6287494	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs374619035	chr8:6287506-6287507	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs145617560	chr8:6287540-6287541	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs563733106	chr8:6287548-6287549	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs141451892	chr8:6287554-6287555	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs570042268	chr8:6287567-6287568	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs548424119	chr8:6287574-6287575	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs191450884	chr8:6287579-6287580	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs537149066	chr8:6287585-6287586	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs527309934	chr8:6287595-6287596	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs368867043	chr8:6287607-6287608	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs79537429	chr8:6287650-6287651	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs570599576	chr8:6287673-6287674	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs145190452	chr8:6287674-6287675	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs147618377	chr8:6287688-6287689	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs386721792	chr8:6287690-6287691	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs2920682	chr8:6287692-6287693	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs565617268	chr8:6287727-6287728	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs2916764	chr8:6287753-6287754	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs142200925	chr8:6287762-6287763	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs577764054	chr8:6287771-6287772	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs76334636	chr8:6287783-6287784	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs557392892	chr8:6287791-6287792	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs182773638	chr8:6287817-6287818	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs2166010	chr8:6287833-6287834	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs374644849	chr8:6287847-6287848	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs560119971	chr8:6287848-6287849	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs7002187	chr8:6287866-6287867	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs573480137	chr8:6287872-6287873	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs541071915	chr8:6287884-6287885	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs563433279	chr8:6287904-6287905	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs564076422	chr8:6287905-6287906	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs143066767	chr8:6287909-6287910	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs148232133	chr8:6287916-6287917	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs140082199	chr8:6287923-6287924	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs150299410	chr8:6287941-6287942	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs372162198	chr8:6287946-6287947	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs548752436	chr8:6287961-6287962	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs186993771	chr8:6287966-6287967	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:137)

Disease	PMID	Source
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	21364760	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Bladder cancer	21909424	CNVD
Autism	20685689	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:296 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6265000-6339200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr8:6265200-6302200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:6265400-6287400	Weak transcription	Psoas Muscle	Psoas
4	chr8:6265400-6303800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:6265600-6290000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr8:6267600-6291400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr8:6267600-6302400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:6268200-6287400	Weak transcription	Colon Smooth Muscle	Colon
9	chr8:6268800-6291600	Weak transcription	HSMMtube	muscle
10	chr8:6269800-6290200	Weak transcription	NH-A	brain
11	chr8:6270200-6295000	Weak transcription	Fetal Brain Female	brain
12	chr8:6273200-6291400	Weak transcription	Aorta	Aorta
13	chr8:6273200-6291600	Weak transcription	Esophagus	oesophagus
14	chr8:6273600-6302800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:6274200-6289400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr8:6274200-6290400	Weak transcription	HMEC	breast
17	chr8:6274400-6300200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr8:6276000-6289800	Weak transcription	Brain Germinal Matrix	brain
19	chr8:6278600-6289200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr8:6278600-6305400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr8:6279000-6289000	Weak transcription	Hela-S3	cervix
22	chr8:6279000-6291800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr8:6279200-6291400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr8:6279400-6289400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr8:6279400-6290200	Weak transcription	Lung	lung
26	chr8:6279400-6290400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr8:6279400-6291400	Weak transcription	Spleen	Spleen
28	chr8:6279400-6291600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:6279600-6287600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:6279600-6290200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:6281600-6290000	Weak transcription	A549	lung
32	chr8:6281800-6302200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr8:6282000-6300600	Weak transcription	Fetal Heart	heart
34	chr8:6282200-6289200	Weak transcription	Fetal Muscle Trunk	muscle
35	chr8:6282200-6289400	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr8:6282200-6292800	Weak transcription	Right Ventricle	heart
37	chr8:6282400-6290000	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr8:6282400-6291200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr8:6282400-6291400	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr8:6282600-6289400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr8:6282600-6290200	Weak transcription	NHEK	skin
42	chr8:6282800-6289400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr8:6282800-6289600	Weak transcription	Left Ventricle	heart
44	chr8:6282800-6290000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr8:6282800-6290200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr8:6282800-6313400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr8:6283000-6290000	Weak transcription	Stomach Smooth Muscle	stomach
48	chr8:6283200-6287400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr8:6283200-6289400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr8:6283200-6289600	Weak transcription	Fetal Lung	lung

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