Variant report

Variant	nsv1024391
Chromosome Location	chr5:98355665-98653657
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:90)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:90 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr5:98411117..98412931-chr5:98414405..98417154,2	K562	blood:
2	chr5:98386273..98389246-chr5:98395943..98397711,2	K562	blood:
3	chr5:98398453..98401255-chr5:98402077..98404728,2	K562	blood:
4	chr5:98263162..98264704-chr5:98365544..98368385,2	K562	blood:
5	chr5:98429467..98432649-chr5:98432895..98434455,3	K562	blood:
6	chr5:98439732..98443167-chr5:98443628..98446985,4	K562	blood:
7	chr5:98461688..98463310-chr5:98465572..98467259,2	K562	blood:
8	chr5:98254296..98256757-chr5:98393861..98395478,2	K562	blood:
9	chr5:98440489..98443167-chr5:98443628..98445845,2	K562	blood:
10	chr5:98382879..98385337-chr5:98386615..98388496,2	K562	blood:
11	chr5:98398974..98401238-chr5:98428191..98430684,2	MCF-7	breast:
12	chr5:98423960..98426113-chr5:98429583..98431463,3	K562	blood:
13	chr5:98247883..98250755-chr5:98381007..98383241,2	K562	blood:
14	chr5:98355578..98358107-chr5:98362158..98365732,4	K562	blood:
15	chr5:98250951..98253126-chr5:98356611..98358893,2	K562	blood:
16	chr5:98571402..98573856-chr5:98574423..98577083,2	K562	blood:
17	chr5:98440489..98443167-chr5:98443628..98445845,2	K562	blood:
18	chr5:97966444..97968012-chr5:98368423..98370387,2	K562	blood:
19	chr5:98367873..98368452-chr5:98395154..98396281,3	MCF-7	breast:
20	chr5:98265027..98268409-chr5:98365166..98367986,4	K562	blood:
21	chr5:98264902..98266916-chr5:98381565..98384690,3	K562	blood:
22	chr5:98262156..98264317-chr5:98355438..98358771,4	K562	blood:
23	chr5:98241190..98242629-chr5:98367641..98368871,16	K562	blood:
24	chr5:98252569..98255536-chr5:98389385..98390974,2	K562	blood:
25	chr5:98355578..98358107-chr5:98362158..98365732,4	K562	blood:
26	chr5:98439732..98443167-chr5:98443628..98446985,4	K562	blood:
27	chr5:98356545..98359049-chr5:98366364..98368367,2	K562	blood:
28	chr5:98403925..98406393-chr5:98408428..98410098,2	K562	blood:
29	chr5:98369332..98370875-chr5:98373257..98375496,2	K562	blood:
30	chr5:98398974..98401238-chr5:98428191..98430684,2	MCF-7	breast:
31	chr5:98440206..98440855-chr5:98503610..98504175,2	MCF-7	breast:
32	chr5:98325863..98328194-chr5:98369753..98372423,2	MCF-7	breast:
33	chr5:98262821..98265314-chr5:98397018..98399137,2	MCF-7	breast:
34	chr5:98266316..98268754-chr5:98386981..98389928,2	MCF-7	breast:
35	chr5:98263067..98265701-chr5:98365532..98368540,4	MCF-7	breast:
36	chr5:98571402..98573856-chr5:98574423..98577083,2	K562	blood:
37	chr5:98641996..98644469-chr5:98647051..98649595,2	K562	blood:
38	chr5:98271965..98274046-chr5:98366756..98368349,2	K562	blood:
39	chr5:98369332..98370875-chr5:98373257..98375496,2	K562	blood:
40	chr5:98243191..98245221-chr5:98386260..98388013,2	K562	blood:
41	chr5:98241392..98242207-chr5:98367928..98368798,4	MCF-7	breast:
42	chr5:98641996..98644469-chr5:98647051..98649595,2	K562	blood:
43	chr5:98356545..98359049-chr5:98366364..98368367,2	K562	blood:
44	chr5:98264688..98266479-chr5:98468438..98470812,2	K562	blood:
45	chr5:98461688..98463310-chr5:98465572..98467259,2	K562	blood:
46	chr5:98362205..98363958-chr5:98366950..98369649,2	MCF-7	breast:
47	chr5:98264285..98266376-chr5:98383857..98386212,2	K562	blood:
48	chr5:98372764..98374577-chr5:98390711..98393548,2	MCF-7	breast:
49	chr5:98383000..98385352-chr5:98389341..98391227,2	K562	blood:
50	chr5:98263646..98265342-chr5:98360622..98362324,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000048471	chromatin interactions
ENSG00000234719	chromatin interactions
ENSG00000248489	chromatin interactions
ENSG00000153922	chromatin interactions
ENSG00000200351	chromatin interactions

Extended variants
information (count: 4791 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:4791 , 50 per page) page: 1 2 3 4 5 6 7 ... 96

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529470327	chr5:98355674-98355675	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs547843726	chr5:98355689-98355690	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs73159415	chr5:98355690-98355691	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs539429903	chr5:98355724-98355725	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs116465183	chr5:98355739-98355740	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs181147219	chr5:98355749-98355750	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs373073062	chr5:98355771-98355772	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs17166564	chr5:98355778-98355779	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs576484881	chr5:98355798-98355799	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs144068558	chr5:98355850-98355851	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs185899264	chr5:98355866-98355867	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs146604258	chr5:98355895-98355896	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs190321425	chr5:98355903-98355904	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs113404319	chr5:98355912-98355913	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs572200285	chr5:98355917-98355918	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs149200423	chr5:98355925-98355926	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs557828565	chr5:98355927-98355928	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs182034073	chr5:98355972-98355973	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs186223257	chr5:98356015-98356016	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs189850792	chr5:98356127-98356128	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs182756240	chr5:98356227-98356228	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs541299409	chr5:98356262-98356263	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs185851930	chr5:98356267-98356268	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs142445326	chr5:98356293-98356294	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs7712408	chr5:98356337-98356338	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs569672816	chr5:98356338-98356339	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs151331207	chr5:98356467-98356468	Enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs533709252	chr5:98356656-98356657	Enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs13179812	chr5:98356733-98356734	Enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs140427479	chr5:98356770-98356771	Enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs150404461	chr5:98356794-98356795	Enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs111318836	chr5:98356806-98356807	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs182814450	chr5:98356822-98356823	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs557891661	chr5:98356850-98356851	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs576080930	chr5:98356851-98356852	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs187669259	chr5:98356924-98356925	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs563295579	chr5:98357030-98357031	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs556013329	chr5:98357151-98357152	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs528968607	chr5:98357185-98357186	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs574277136	chr5:98357204-98357205	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs78253641	chr5:98357239-98357240	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs375191648	chr5:98357273-98357274	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs541607476	chr5:98357280-98357281	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs138346645	chr5:98357286-98357287	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs533357169	chr5:98357323-98357324	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs142426425	chr5:98357352-98357353	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs4370306	chr5:98357370-98357371	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs530899874	chr5:98357376-98357377	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs138094184	chr5:98357396-98357397	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs549143121	chr5:98357409-98357410	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:1082 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98353600-98358000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:98353600-98361600	Weak transcription	Small Intestine	intestine
3	chr5:98354600-98357000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:98354600-98357000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:98354800-98355800	Enhancers	Rectal Mucosa Donor 29	rectum
6	chr5:98354800-98356800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:98354800-98357000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr5:98355000-98356200	Enhancers	Rectal Smooth Muscle	rectum
9	chr5:98355000-98356400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:98355000-98356400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:98355000-98356400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:98355000-98356400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr5:98355000-98356400	Enhancers	Stomach Mucosa	stomach
14	chr5:98355000-98356400	Enhancers	HSMM	muscle
15	chr5:98355000-98356400	Enhancers	K562	blood
16	chr5:98355000-98356600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:98355000-98356600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr5:98355000-98356600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:98355000-98356600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:98355000-98356600	Enhancers	Hela-S3	cervix
21	chr5:98355000-98356800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:98355000-98356800	Enhancers	NH-A	brain
23	chr5:98355000-98356800	Enhancers	Osteobl	bone
24	chr5:98355000-98358200	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr5:98355000-98358400	Enhancers	Fetal Intestine Small	intestine
26	chr5:98355000-98358600	Enhancers	Fetal Intestine Large	intestine
27	chr5:98355200-98356000	Enhancers	Colonic Mucosa	Colon
28	chr5:98355400-98356400	Enhancers	Colon Smooth Muscle	Colon
29	chr5:98355400-98356600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:98355400-98357000	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr5:98355400-98357000	Enhancers	Liver	Liver
32	chr5:98355400-98357400	Enhancers	Duodenum Mucosa	Duodenum
33	chr5:98355600-98355800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr5:98355600-98355800	Enhancers	HSMMtube	muscle
35	chr5:98355600-98356000	Flanking Active TSS	HUVEC	blood vessel
36	chr5:98355600-98356000	Flanking Active TSS	NHDF-Ad	bronchial
37	chr5:98355600-98356400	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr5:98355600-98356400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr5:98355600-98356400	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr5:98355600-98356400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr5:98355600-98356400	Enhancers	Placenta Amnion	Placenta Amnion
42	chr5:98355600-98356400	Enhancers	NHEK	skin
43	chr5:98355600-98356600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr5:98355600-98356600	Enhancers	HMEC	breast
45	chr5:98355600-98356800	Enhancers	Adipose Nuclei	Adipose
46	chr5:98355600-98356800	Enhancers	A549	lung
47	chr5:98355600-98358400	Enhancers	HepG2	liver
48	chr5:98355800-98356000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr5:98355800-98356000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
50	chr5:98355800-98356200	Flanking Active TSS	HSMMtube	muscle

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