Variant report

Variant	esv3371299
Chromosome Location	chr5:95261096-95265494
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:1)
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	chr5:95256084..95258584-chr5:95264436..95266158,3	K562	blood:
2	chr5:95263040..95265383-chr5:95296310..95298391,2	MCF-7	breast:
3	chr5:95265302..95267698-chr5:95294461..95296344,2	K562	blood:
4	chr5:95228710..95230634-chr5:95260424..95262150,2	K562	blood:
5	chr5:95259027..95261912-chr5:95403568..95405178,2	K562	blood:
6	chr5:95257637..95262263-chr5:95295485..95300660,6	K562	blood:
7	chr5:95265302..95267698-chr5:95294461..95297744,3	K562	blood:
8	chr5:95260360..95261946-chr5:95297991..95299734,2	K562	blood:
9	chr5:95262626..95265334-chr5:95402014..95404790,2	K562	blood:
10	chr5:95232218..95234348-chr5:95259684..95262327,2	MCF-7	breast:
11	chr5:95228710..95230436-chr5:95260445..95262150,2	K562	blood:
12	chr5:95261849..95263612-chr5:95264702..95267235,2	MCF-7	breast:
13	chr5:95261849..95263612-chr5:95264702..95267235,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GLRX-4	chr5:95263669-95263880	expReg_chr5_5250_-

No data

Variant related genes	Relation type
ENSG00000251314	chromatin interactions
ENSG00000118985	chromatin interactions

Extended variants
information (count: 251 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:251 , 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	rs144383978	chr5:95261104-95261105	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs374084726	chr5:95261117-95261118	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs533064193	chr5:95261153-95261154	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs147828987	chr5:95261260-95261261	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs78130469	chr5:95261290-95261291	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs566660475	chr5:95261325-95261326	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs201838258	chr5:95261398-95261399	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs535551964	chr5:95261401-95261402	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs35177653	chr5:95261466-95261467	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs549049955	chr5:95261480-95261481	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs11948037	chr5:95261510-95261511	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs6877329	chr5:95261538-95261539	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs73771806	chr5:95261634-95261635	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs577492894	chr5:95261657-95261658	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs576357356	chr5:95261696-95261697	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs541987350	chr5:95261700-95261701	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs539740550	chr5:95261713-95261714	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs555427865	chr5:95261724-95261725	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs186014006	chr5:95261765-95261766	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs573062386	chr5:95261815-95261816	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs141633507	chr5:95261907-95261908	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs562184328	chr5:95261924-95261925	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs575567893	chr5:95261945-95261946	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs544629933	chr5:95261961-95261962	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs145479115	chr5:95261967-95261968	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs111654886	chr5:95262015-95262016	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs3777184	chr5:95262044-95262045	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs563893266	chr5:95262207-95262208	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs145193465	chr5:95262245-95262246	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs560390716	chr5:95262246-95262247	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs149149489	chr5:95262354-95262355	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113110197	chr5:95262510-95262511	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11738945	chr5:95262513-95262514	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
34	rs11742959	chr5:95262616-95262617	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs537522310	chr5:95262651-95262652	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs199838156	chr5:95262676-95262677	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551403042	chr5:95262681-95262682	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs368267835	chr5:95262725-95262726	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs372498319	chr5:95262760-95262761	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571146875	chr5:95262819-95262820	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs79407482	chr5:95262854-95262855	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs553205148	chr5:95262859-95262860	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs78814372	chr5:95262863-95262864	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs148369216	chr5:95262974-95262975	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs532645635	chr5:95263029-95263030	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535621796	chr5:95263032-95263033	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192111350	chr5:95263041-95263042	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs144248172	chr5:95263062-95263063	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs183886427	chr5:95263063-95263064	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs187751654	chr5:95263066-95263067	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Williams Syndrome	20824207	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:232 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95226400-95263600	Weak transcription	Colonic Mucosa	Colon
2	chr5:95236400-95276600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:95238200-95282000	Weak transcription	HUVEC	blood vessel
4	chr5:95243400-95278800	Weak transcription	Lung	lung
5	chr5:95243600-95274200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr5:95246400-95266400	Weak transcription	NHDF-Ad	bronchial
7	chr5:95249800-95271600	Weak transcription	NH-A	brain
8	chr5:95250600-95263000	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr5:95251200-95261800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:95252200-95263800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr5:95252200-95272400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr5:95252400-95264600	Weak transcription	Ovary	ovary
13	chr5:95252400-95266400	Weak transcription	HSMMtube	muscle
14	chr5:95253400-95262600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr5:95253800-95272400	Weak transcription	Placenta	Placenta
16	chr5:95254600-95266000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:95256200-95263000	Genic enhancers	NHEK	skin
18	chr5:95256600-95261600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:95257400-95261400	Genic enhancers	Muscle Satellite Cultured Cells	--
20	chr5:95257400-95266400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr5:95257400-95276600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr5:95258600-95261600	Enhancers	Fetal Intestine Large	intestine
23	chr5:95258600-95262000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:95258600-95262000	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr5:95258600-95262200	Enhancers	Brain Cingulate Gyrus	brain
26	chr5:95258600-95262400	Enhancers	Brain Substantia Nigra	brain
27	chr5:95258800-95262800	Enhancers	Brain Hippocampus Middle	brain
28	chr5:95259000-95261200	Enhancers	Brain Anterior Caudate	brain
29	chr5:95259000-95261400	Enhancers	Fetal Intestine Small	intestine
30	chr5:95259000-95261400	Enhancers	Stomach Mucosa	stomach
31	chr5:95259000-95261800	Enhancers	Adipose Nuclei	Adipose
32	chr5:95259000-95262000	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr5:95259000-95262200	Enhancers	Brain Angular Gyrus	brain
34	chr5:95259000-95262600	Enhancers	Primary B cells from cord blood	blood
35	chr5:95259000-95264000	Enhancers	Dnd41	blood
36	chr5:95259000-95264600	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr5:95259200-95261600	Flanking Active TSS	GM12878-XiMat	blood
38	chr5:95259200-95261800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr5:95259400-95261600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr5:95259400-95263600	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr5:95259400-95264600	Weak transcription	Gastric	stomach
42	chr5:95259400-95264800	Enhancers	Primary B cells from peripheral blood	blood
43	chr5:95259400-95266800	Weak transcription	Aorta	Aorta
44	chr5:95259400-95271400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr5:95259400-95271400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:95259400-95273400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr5:95259400-95274600	Weak transcription	Psoas Muscle	Psoas
48	chr5:95259600-95261400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr5:95259600-95261600	Enhancers	Fetal Thymus	thymus
50	chr5:95259600-95262200	Enhancers	Primary hematopoietic stem cells	blood

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