Variant report

Variant	esv3426651
Chromosome Location	chr5:96252101-96252517
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:96250090..96254054-chr5:96271244..96274355,3	K562	blood:
2	chr5:96251167..96254648-chr5:96255205..96257867,3	K562	blood:

Variant related genes	Relation type
ENSG00000247121	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189978292	chr5:96252111-96252112	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs148335911	chr5:96252115-96252116	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs13171667	chr5:96252148-96252149	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs531188340	chr5:96252254-96252255	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs543380040	chr5:96252284-96252285	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs10454291	chr5:96252292-96252293	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs556837904	chr5:96252317-96252318	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs190247412	chr5:96252318-96252319	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs141466933	chr5:96252355-96252356	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs556205176	chr5:96252387-96252388	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs139086235	chr5:96252406-96252407	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs533089484	chr5:96252429-96252430	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs112661212	chr5:96252431-96252432	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs2927608	chr5:96252432-96252433	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs34358677	chr5:96252469-96252470	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs199810676	chr5:96252470-96252471	Weak transcription Strong transcription	Chromatin interactive region	1 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
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96218000-96264600	Weak transcription	Right Ventricle	heart
2	chr5:96218600-96259600	Weak transcription	HMEC	breast
3	chr5:96221600-96269200	Weak transcription	Fetal Brain Male	brain
4	chr5:96222000-96268600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:96222400-96258200	Weak transcription	Stomach Mucosa	stomach
6	chr5:96225600-96266400	Weak transcription	Gastric	stomach
7	chr5:96229600-96269600	Weak transcription	Aorta	Aorta
8	chr5:96229800-96256800	Weak transcription	NHEK	skin
9	chr5:96229800-96256800	Weak transcription	Osteobl	bone
10	chr5:96229800-96257000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:96229800-96270000	Weak transcription	Esophagus	oesophagus
12	chr5:96232600-96258400	Weak transcription	Brain Hippocampus Middle	brain
13	chr5:96233000-96255600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr5:96233000-96256200	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr5:96233800-96256000	Strong transcription	Primary B cells from peripheral blood	blood
16	chr5:96234200-96255600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr5:96237400-96269200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:96237800-96265000	Weak transcription	Fetal Muscle Leg	muscle
19	chr5:96238400-96256800	Weak transcription	NHDF-Ad	bronchial
20	chr5:96239400-96256800	Weak transcription	HSMM	muscle
21	chr5:96239400-96257200	Weak transcription	NHLF	lung
22	chr5:96239600-96252800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:96239800-96268000	Weak transcription	Colonic Mucosa	Colon
24	chr5:96240200-96253600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr5:96240400-96254200	Strong transcription	GM12878-XiMat	blood
26	chr5:96240600-96256800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:96242000-96259800	Weak transcription	Fetal Stomach	stomach
28	chr5:96242200-96255600	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr5:96242200-96256000	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr5:96242200-96268000	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr5:96243400-96257200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr5:96243600-96255000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr5:96243600-96266400	Weak transcription	Brain Angular Gyrus	brain
34	chr5:96243800-96256000	Strong transcription	Fetal Thymus	thymus
35	chr5:96244200-96258600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr5:96245200-96256600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr5:96245400-96258200	Weak transcription	Small Intestine	intestine
38	chr5:96245400-96259600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr5:96245400-96259800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr5:96245600-96255800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr5:96245800-96253600	Weak transcription	Placenta	Placenta
42	chr5:96245800-96254200	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr5:96245800-96256600	Weak transcription	HUVEC	blood vessel
44	chr5:96245800-96256800	Weak transcription	Colon Smooth Muscle	Colon
45	chr5:96245800-96258600	Weak transcription	Ovary	ovary
46	chr5:96245800-96264600	Weak transcription	Left Ventricle	heart
47	chr5:96246000-96256800	Weak transcription	Stomach Smooth Muscle	stomach
48	chr5:96246000-96258000	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr5:96246000-96268200	Weak transcription	Fetal Intestine Small	intestine
50	chr5:96246000-96270200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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