Variant report

Variant	nsv823183
Chromosome Location	chr5:112295843-112296301
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	chr5:112292808..112297954-chr5:112311731..112314309,4	MCF-7	breast:
2	chr5:112294256..112295877-chr5:112297212..112298935,2	K562	blood:
3	chr5:112296171..112299064-chr5:112312877..112315865,3	K562	blood:
4	chr5:112295383..112297610-chr5:112302677..112305586,2	K562	blood:
5	chr5:112293295..112296045-chr5:112298149..112301329,3	MCF-7	breast:
6	chr5:112256942..112259777-chr5:112292490..112295980,4	MCF-7	breast:
7	chr5:112292348..112294065-chr5:112295595..112297511,2	MCF-7	breast:
8	chr5:112294258..112297172-chr5:112310787..112314038,4	MCF-7	breast:
9	chr5:112256312..112258572-chr5:112293343..112296094,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000129625	chromatin interactions
ENSG00000172795	chromatin interactions

Extended variants
information (count: 26 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552281795	chr5:112295859-112295860	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs181665722	chr5:112295864-112295865	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs111724604	chr5:112295889-112295890	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs368902830	chr5:112295925-112295926	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs552648190	chr5:112295936-112295937	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs142391446	chr5:112295957-112295958	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs10515452	chr5:112295964-112295965	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs529633006	chr5:112295982-112295983	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs550889386	chr5:112296017-112296018	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs534180675	chr5:112296019-112296020	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs377465777	chr5:112296020-112296021	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs569459556	chr5:112296040-112296041	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs539142675	chr5:112296081-112296082	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs527617061	chr5:112296133-112296134	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs153571	chr5:112296136-112296137	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs566104809	chr5:112296156-112296157	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs113923996	chr5:112296222-112296223	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs555204484	chr5:112296258-112296259	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs550082099	chr5:112296269-112296270	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs77106202	chr5:112296275-112296276	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs369339145	chr5:112296276-112296277	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs558605291	chr5:112296277-112296278	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs544541973	chr5:112296286-112296287	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs367613393	chr5:112296293-112296294	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs62366965	chr5:112296294-112296295	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs4367291	chr5:112296297-112296298	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
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
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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	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
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Colorectal cancer	21297112	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Sezary syndrome	18413736	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112291600-112297600	Enhancers	HepG2	liver
2	chr5:112293200-112296400	Enhancers	Stomach Smooth Muscle	stomach
3	chr5:112293200-112296400	Enhancers	HSMMtube	muscle
4	chr5:112293200-112296400	Enhancers	HUVEC	blood vessel
5	chr5:112293200-112297000	Enhancers	NHDF-Ad	bronchial
6	chr5:112293200-112297000	Enhancers	NHLF	lung
7	chr5:112293400-112297200	Enhancers	Fetal Muscle Leg	muscle
8	chr5:112293400-112297200	Enhancers	Fetal Stomach	stomach
9	chr5:112293600-112296400	Enhancers	HSMM	muscle
10	chr5:112293800-112296000	Enhancers	Colon Smooth Muscle	Colon
11	chr5:112293800-112296000	Enhancers	Stomach Mucosa	stomach
12	chr5:112293800-112296000	Enhancers	HMEC	breast
13	chr5:112293800-112297000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:112293800-112297000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:112293800-112297200	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr5:112293800-112297200	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr5:112293800-112297600	Enhancers	K562	blood
18	chr5:112293800-112297800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr5:112294000-112311800	Weak transcription	Right Atrium	heart
20	chr5:112294200-112296800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr5:112294400-112298000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr5:112294600-112296200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:112294600-112299400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr5:112294800-112296600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:112294800-112297000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr5:112294800-112297000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:112294800-112299400	Weak transcription	Fetal Heart	heart
28	chr5:112294800-112304400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr5:112295000-112296200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:112295000-112296200	Weak transcription	Brain Hippocampus Middle	brain
31	chr5:112295000-112296400	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr5:112295000-112296800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr5:112295000-112297000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:112295000-112297200	Enhancers	Psoas Muscle	Psoas
35	chr5:112295200-112296200	Enhancers	Fetal Muscle Trunk	muscle
36	chr5:112295200-112297000	Enhancers	Osteobl	bone
37	chr5:112295200-112297200	Enhancers	Brain Germinal Matrix	brain
38	chr5:112295200-112297200	Enhancers	NH-A	brain
39	chr5:112295200-112299000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr5:112295200-112299000	Weak transcription	Adipose Nuclei	Adipose
41	chr5:112295200-112299600	Enhancers	GM12878-XiMat	blood
42	chr5:112295200-112304400	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr5:112295400-112296000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr5:112295400-112296000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr5:112295600-112296200	Flanking Active TSS	A549	lung
46	chr5:112295600-112296200	Enhancers	NHEK	skin
47	chr5:112295600-112297000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr5:112295800-112296000	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr5:112295800-112296000	Enhancers	Fetal Brain Female	brain
50	chr5:112295800-112296000	Enhancers	Rectal Smooth Muscle	rectum

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