Variant report

Variant	nsv462386
Chromosome Location	chr5:111667572-111699317
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:12)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:111672466..111674712-chr5:111689508..111691131,2	K562	blood:
2	chr5:111664622..111667062-chr5:111669246..111671249,2	K562	blood:
3	chr5:111681506..111684177-chr5:111711327..111713137,2	K562	blood:
4	chr5:111676724..111678269-chr5:111678976..111680650,2	MCF-7	breast:
5	chr5:111676724..111678269-chr5:111678976..111680650,2	MCF-7	breast:
6	chr5:111678130..111679875-chr5:111682477..111684112,2	K562	blood:
7	chr5:111683856..111685558-chr5:111688927..111690455,2	MCF-7	breast:
8	chr5:111678130..111679875-chr5:111682477..111684112,2	K562	blood:
9	chr5:111685601..111687919-chr5:111689516..111692384,2	K562	blood:
10	chr5:111685601..111687919-chr5:111689516..111692384,2	K562	blood:
11	chr5:111683856..111685558-chr5:111688927..111690455,2	MCF-7	breast:
12	chr5:111672466..111674712-chr5:111689508..111691131,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C5orf13-6	chr5:111699153-111699363	NONHSAT103226

No data

Extended variants
information (count: 1413 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1413 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs821735	chr5:111667572-111667573	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs821734	chr5:111667579-111667580	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs6886398	chr5:111667620-111667621	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs549208596	chr5:111667637-111667638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539566178	chr5:111667652-111667653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113571899	chr5:111667657-111667658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557618823	chr5:111667729-111667730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78256779	chr5:111667734-111667735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186196709	chr5:111667746-111667747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555721929	chr5:111667770-111667771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574010453	chr5:111667819-111667820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191991522	chr5:111667839-111667840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs183525726	chr5:111667889-111667890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530981149	chr5:111667913-111667914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115707725	chr5:111667929-111667930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564488456	chr5:111667943-111667944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528709501	chr5:111667957-111667958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs116820387	chr5:111667967-111667968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568401431	chr5:111667989-111667990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529585693	chr5:111668001-111668002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201273560	chr5:111668012-111668013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs75316979	chr5:111668053-111668054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs117905425	chr5:111668055-111668056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs140567947	chr5:111668061-111668062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376150689	chr5:111668073-111668074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186833079	chr5:111668112-111668113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566520450	chr5:111668154-111668155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533967771	chr5:111668204-111668205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs148676732	chr5:111668221-111668222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191216227	chr5:111668250-111668251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537959172	chr5:111668271-111668272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182498534	chr5:111668276-111668277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552486700	chr5:111668396-111668397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372619977	chr5:111668408-111668409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557353288	chr5:111668423-111668424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575611596	chr5:111668425-111668426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545955883	chr5:111668433-111668434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564585112	chr5:111668444-111668445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186964093	chr5:111668473-111668474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs821733	chr5:111668481-111668482	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs11739473	chr5:111668564-111668565	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs142156316	chr5:111668573-111668574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550869539	chr5:111668615-111668616	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs554481124	chr5:111668654-111668655	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs151231705	chr5:111668672-111668673	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs551118409	chr5:111668690-111668691	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs571924107	chr5:111668708-111668709	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs139376069	chr5:111668710-111668711	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs12517378	chr5:111668712-111668713	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs549154121	chr5:111668723-111668724	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Prostate cancer	22341455	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:444 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111637400-111684600	Weak transcription	Aorta	Aorta
2	chr5:111653200-111674000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:111659200-111668800	Weak transcription	Pancreas	Pancrea
4	chr5:111661400-111669000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr5:111664200-111669000	Enhancers	Fetal Heart	heart
6	chr5:111665400-111667800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr5:111665400-111668800	Enhancers	HUVEC	blood vessel
8	chr5:111665400-111670600	Weak transcription	Hela-S3	cervix
9	chr5:111665400-111674600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr5:111665600-111668600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr5:111665600-111668600	Weak transcription	Fetal Brain Female	brain
12	chr5:111665600-111668800	Weak transcription	Fetal Lung	lung
13	chr5:111665600-111669000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr5:111665600-111669000	Weak transcription	Fetal Kidney	kidney
15	chr5:111665600-111669200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:111665600-111674000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr5:111665800-111668400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr5:111665800-111668800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr5:111665800-111668800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:111665800-111669200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr5:111666000-111668600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr5:111666000-111668600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr5:111666000-111669000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr5:111666000-111669800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr5:111666200-111667600	Enhancers	Lung	lung
26	chr5:111666200-111668400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr5:111666200-111668600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr5:111666400-111668800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:111666800-111667600	Enhancers	Right Ventricle	heart
30	chr5:111666800-111667800	Enhancers	Left Ventricle	heart
31	chr5:111667000-111667600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:111667000-111667600	Enhancers	Gastric	stomach
33	chr5:111667000-111668600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:111667200-111667600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:111667200-111667600	Enhancers	Psoas Muscle	Psoas
36	chr5:111667200-111667600	Enhancers	Spleen	Spleen
37	chr5:111667200-111667800	Enhancers	Right Atrium	heart
38	chr5:111667200-111669800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr5:111667200-111674000	Weak transcription	Esophagus	oesophagus
40	chr5:111667400-111667800	Enhancers	Adipose Nuclei	Adipose
41	chr5:111667400-111668000	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr5:111667400-111668600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:111667600-111668800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr5:111667600-111668800	Weak transcription	Lung	lung
45	chr5:111667600-111668800	Weak transcription	Right Ventricle	heart
46	chr5:111667600-111669000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:111667600-111669000	Weak transcription	Psoas Muscle	Psoas
48	chr5:111667600-111669000	Weak transcription	Spleen	Spleen
49	chr5:111667600-111671200	Weak transcription	Gastric	stomach
50	chr5:111667800-111668800	Weak transcription	Adipose Nuclei	Adipose

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