Variant report

Variant	nsv882787
Chromosome Location	chr5:119874306-119925692
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:119899537..119902283-chr5:119906756..119908959,2	K562	blood:
2	chr5:119886756..119889709-chr5:119891670..119893322,2	K562	blood:
3	chr5:119877678..119879721-chr5:119882058..119884163,2	K562	blood:
4	chr5:119891736..119894093-chr5:119898854..119902222,3	K562	blood:
5	chr5:119847102..119848643-chr5:119877942..119880653,2	K562	blood:
6	chr5:119886756..119889709-chr5:119891670..119893322,2	K562	blood:
7	chr5:119906837..119908623-chr5:119910419..119912812,2	K562	blood:
8	chr5:119906837..119908623-chr5:119910419..119912812,2	K562	blood:
9	chr5:119877678..119879721-chr5:119882058..119884163,2	K562	blood:
10	chr5:119870688..119872446-chr5:119874411..119876714,2	K562	blood:
11	chr5:119899537..119902283-chr5:119906756..119908959,2	K562	blood:
12	chr5:119849515..119851535-chr5:119903167..119905944,2	K562	blood:
13	chr5:119875090..119877798-chr5:119880363..119881947,2	K562	blood:
14	chr5:119901221..119903356-chr5:119911285..119913616,2	K562	blood:
15	chr5:119901221..119903356-chr5:119911285..119913616,2	K562	blood:
16	chr5:119875090..119877798-chr5:119880363..119881947,2	K562	blood:
17	chr5:119889111..119891337-chr5:119901156..119903856,2	K562	blood:
18	chr5:119889111..119891337-chr5:119901156..119903856,2	K562	blood:
19	chr5:119891736..119894093-chr5:119898854..119902222,3	K562	blood:

No data

Extended variants
information (count: 2150 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:2150 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13188158	chr5:119874306-119874307	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566530586	chr5:119874341-119874342	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs528906690	chr5:119874346-119874347	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs9986275	chr5:119874356-119874357	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs138155459	chr5:119874400-119874401	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs537743841	chr5:119874401-119874402	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188772953	chr5:119874420-119874421	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570693445	chr5:119874438-119874439	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536175975	chr5:119874455-119874456	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539609520	chr5:119874467-119874468	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142325566	chr5:119874493-119874494	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368215058	chr5:119874598-119874599	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555643929	chr5:119874602-119874603	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541866824	chr5:119874617-119874618	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555724713	chr5:119874618-119874619	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs17146746	chr5:119874629-119874630	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs532905660	chr5:119874633-119874634	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373803473	chr5:119874634-119874635	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544497419	chr5:119874663-119874664	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564307211	chr5:119874745-119874746	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs17146750	chr5:119874789-119874790	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs540403700	chr5:119874815-119874816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559996538	chr5:119874834-119874835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192118323	chr5:119874857-119874858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548748822	chr5:119874869-119874870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76774606	chr5:119874899-119874900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544252606	chr5:119875050-119875051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531140107	chr5:119875062-119875063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550877883	chr5:119875144-119875145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572620703	chr5:119875154-119875155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570780869	chr5:119875220-119875221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539647212	chr5:119875261-119875262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148635521	chr5:119875271-119875272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539932621	chr5:119875284-119875285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535942441	chr5:119875312-119875313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555506944	chr5:119875340-119875341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142092061	chr5:119875346-119875347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544585578	chr5:119875358-119875359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199697060	chr5:119875372-119875373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558108892	chr5:119875490-119875491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577966374	chr5:119875492-119875493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540438789	chr5:119875527-119875528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73786515	chr5:119875528-119875529	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs73786516	chr5:119875529-119875530	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs542689163	chr5:119875530-119875531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569760185	chr5:119875531-119875532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75029437	chr5:119875537-119875538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs13165484	chr5:119875565-119875566	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs531227379	chr5:119875584-119875585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550914856	chr5:119875585-119875586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
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
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
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:251 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119839800-119879800	Weak transcription	Psoas Muscle	Psoas
2	chr5:119864600-119874400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:119867200-119879800	Weak transcription	Left Ventricle	heart
4	chr5:119869000-119874400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr5:119869800-119874400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr5:119870800-119874400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:119871600-119874400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:119874000-119875000	Enhancers	NH-A	brain
9	chr5:119874000-119876400	Enhancers	HMEC	breast
10	chr5:119874200-119874400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:119874200-119874400	Flanking Active TSS	HSMM	muscle
12	chr5:119874200-119874600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:119874200-119874600	Flanking Active TSS	NHDF-Ad	bronchial
14	chr5:119874200-119874800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:119874200-119874800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:119874200-119874800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:119874200-119874800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr5:119874200-119874800	Flanking Active TSS	NHLF	lung
19	chr5:119874200-119874800	Flanking Active TSS	Osteobl	bone
20	chr5:119874200-119875000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr5:119874200-119875800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr5:119874400-119874600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:119874400-119874800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr5:119874400-119874800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:119874400-119874800	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr5:119874400-119875000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr5:119874400-119875000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:119874400-119875000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:119874400-119875400	Enhancers	HSMM	muscle
30	chr5:119874400-119875400	Enhancers	HSMMtube	muscle
31	chr5:119874400-119876200	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr5:119874400-119876600	Enhancers	Fetal Heart	heart
33	chr5:119874600-119875800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr5:119874600-119876400	Enhancers	NHDF-Ad	bronchial
35	chr5:119874600-119877000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:119874800-119876000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr5:119874800-119876400	Enhancers	Muscle Satellite Cultured Cells	--
38	chr5:119874800-119876400	Enhancers	NHLF	lung
39	chr5:119874800-119876400	Enhancers	Osteobl	bone
40	chr5:119874800-119876800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr5:119874800-119876800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr5:119874800-119877400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:119874800-119886000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:119875000-119875400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr5:119875000-119875400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr5:119875000-119875400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr5:119875000-119875400	Weak transcription	NH-A	brain
48	chr5:119875000-119875600	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr5:119875400-119875800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr5:119875400-119876000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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