Variant report

Variant	esv3331990
Chromosome Location	chr5:95262346-95264544
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:95263040..95265383-chr5:95296310..95298391,2	MCF-7	breast:
2	chr5:95261849..95263612-chr5:95264702..95267235,2	MCF-7	breast:
3	chr5:95262626..95265334-chr5:95402014..95404790,2	K562	blood:
4	chr5:95256084..95258584-chr5:95264436..95266158,3	K562	blood:

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

Variant related genes	Relation type
ENSG00000251314	chromatin interactions
ENSG00000118985	chromatin interactions

Extended variants
information (count: 188 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:188 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149149489	chr5:95262354-95262355	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs113110197	chr5:95262510-95262511	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs11738945	chr5:95262513-95262514	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
4	rs11742959	chr5:95262616-95262617	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs537522310	chr5:95262651-95262652	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs199838156	chr5:95262676-95262677	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551403042	chr5:95262681-95262682	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368267835	chr5:95262725-95262726	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372498319	chr5:95262760-95262761	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571146875	chr5:95262819-95262820	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs79407482	chr5:95262854-95262855	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs553205148	chr5:95262859-95262860	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs78814372	chr5:95262863-95262864	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs148369216	chr5:95262974-95262975	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs532645635	chr5:95263029-95263030	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535621796	chr5:95263032-95263033	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192111350	chr5:95263041-95263042	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs144248172	chr5:95263062-95263063	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs183886427	chr5:95263063-95263064	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs187751654	chr5:95263066-95263067	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs200914293	chr5:95263068-95263069	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs201450768	chr5:95263070-95263071	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs372656152	chr5:95263074-95263075	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs199694367	chr5:95263076-95263077	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs200572943	chr5:95263078-95263079	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs529186278	chr5:95263085-95263086	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs542834211	chr5:95263086-95263087	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs562539282	chr5:95263087-95263088	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs531473934	chr5:95263088-95263089	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs551149438	chr5:95263092-95263093	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs571225735	chr5:95263093-95263094	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs527267073	chr5:95263098-95263099	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs546905115	chr5:95263100-95263101	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs566860408	chr5:95263104-95263105	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs375605065	chr5:95263105-95263106	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs535727733	chr5:95263110-95263111	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs555976597	chr5:95263112-95263113	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs569309961	chr5:95263113-95263114	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs538337798	chr5:95263114-95263115	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs569462021	chr5:95263117-95263118	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs578080239	chr5:95263119-95263120	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs146833353	chr5:95263124-95263125	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs540663707	chr5:95263128-95263129	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs554185161	chr5:95263130-95263131	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs574030803	chr5:95263136-95263137	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs542548463	chr5:95263138-95263139	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs548845087	chr5:95263150-95263151	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs565777192	chr5:95263152-95263153	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs190838113	chr5:95263154-95263155	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs369619552	chr5:95263155-95263156	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:147 , 50 per page) page: 1 2 3

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	chr5:95252200-95263800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr5:95252200-95272400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr5:95252400-95264600	Weak transcription	Ovary	ovary
12	chr5:95252400-95266400	Weak transcription	HSMMtube	muscle
13	chr5:95253400-95262600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr5:95253800-95272400	Weak transcription	Placenta	Placenta
15	chr5:95254600-95266000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:95256200-95263000	Genic enhancers	NHEK	skin
17	chr5:95257400-95266400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr5:95257400-95276600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr5:95258600-95262400	Enhancers	Brain Substantia Nigra	brain
20	chr5:95258800-95262800	Enhancers	Brain Hippocampus Middle	brain
21	chr5:95259000-95262600	Enhancers	Primary B cells from cord blood	blood
22	chr5:95259000-95264000	Enhancers	Dnd41	blood
23	chr5:95259000-95264600	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr5:95259400-95263600	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr5:95259400-95264600	Weak transcription	Gastric	stomach
26	chr5:95259400-95264800	Enhancers	Primary B cells from peripheral blood	blood
27	chr5:95259400-95266800	Weak transcription	Aorta	Aorta
28	chr5:95259400-95271400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:95259400-95271400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr5:95259400-95273400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr5:95259400-95274600	Weak transcription	Psoas Muscle	Psoas
32	chr5:95259800-95270000	Weak transcription	Right Ventricle	heart
33	chr5:95260000-95264600	Weak transcription	Pancreas	Pancrea
34	chr5:95260000-95264600	Weak transcription	Right Atrium	heart
35	chr5:95260000-95272200	Weak transcription	Left Ventricle	heart
36	chr5:95260000-95280600	Weak transcription	Esophagus	oesophagus
37	chr5:95260200-95263000	Enhancers	HepG2	liver
38	chr5:95260200-95263200	Enhancers	Liver	Liver
39	chr5:95260600-95262600	Weak transcription	HSMM	muscle
40	chr5:95260800-95263800	Weak transcription	Small Intestine	intestine
41	chr5:95260800-95264200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr5:95260800-95264200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr5:95260800-95273400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr5:95260800-95295200	Weak transcription	Primary T cells from cord blood	blood
45	chr5:95261000-95263600	Weak transcription	Hela-S3	cervix
46	chr5:95261200-95264200	Weak transcription	Duodenum Mucosa	Duodenum
47	chr5:95261200-95265800	Weak transcription	Brain Anterior Caudate	brain
48	chr5:95261400-95262800	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr5:95261400-95263600	Weak transcription	Fetal Intestine Small	intestine
50	chr5:95261400-95263600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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