Variant report

Variant	nsv549889
Chromosome Location	chr10:5610349-5630131
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:55)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:55 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr10:5611483..5614469-chr10:5622600..5625435,2	MCF-7	breast:
2	chr10:5625670..5627432-chr10:5629113..5631880,2	K562	blood:
3	chr10:5602399..5604933-chr10:5614544..5616232,2	K562	blood:
4	chr10:5621478..5624080-chr10:5625841..5627746,2	K562	blood:
5	chr10:5623488..5628108-chr10:5662504..5666628,7	MCF-7	breast:
6	chr10:5558645..5561778-chr10:5628008..5630881,3	MCF-7	breast:
7	chr10:5590216..5591949-chr10:5612041..5614492,2	MCF-7	breast:
8	chr10:5611483..5614469-chr10:5622600..5625435,2	MCF-7	breast:
9	chr10:5523297..5525984-chr10:5626929..5628566,2	MCF-7	breast:
10	chr10:5614636..5617261-chr10:5635762..5637348,3	K562	blood:
11	chr10:5541034..5543833-chr10:5624036..5628974,4	MCF-7	breast:
12	chr10:5505541..5510842-chr10:5625752..5629034,6	MCF-7	breast:
13	chr10:5616258..5618078-chr10:5623406..5625241,2	K562	blood:
14	chr10:5501498..5505039-chr10:5609054..5612377,4	K562	blood:
15	chr10:5625746..5627987-chr10:5645084..5647138,2	MCF-7	breast:
16	chr10:5482726..5485954-chr10:5624615..5627364,3	MCF-7	breast:
17	chr10:5623673..5635207-chr10:5656121..5669428,27	MCF-7	breast:
18	chr10:5612848..5615764-chr10:5625126..5626757,2	K562	blood:
19	chr10:5630058..5631900-chr10:5703072..5705315,2	MCF-7	breast:
20	chr10:5624590..5636573-chr10:5652742..5661113,15	MCF-7	breast:
21	chr10:5588926..5596967-chr10:5614767..5621599,13	MCF-7	breast:
22	chr10:5596817..5599618-chr10:5614255..5615929,2	K562	blood:
23	chr10:5624223..5628705-chr10:5705947..5708974,4	MCF-7	breast:
24	chr10:5527980..5531416-chr10:5628213..5631359,3	MCF-7	breast:
25	chr10:5504077..5506564-chr10:5616336..5618283,2	K562	blood:
26	chr10:5543933..5545635-chr10:5625422..5627089,2	MCF-7	breast:
27	chr10:5624309..5631245-chr10:5648674..5654250,8	MCF-7	breast:
28	chr10:5501498..5504725-chr10:5609054..5611930,3	K562	blood:
29	chr10:5611302..5613538-chr10:5641656..5643711,2	MCF-7	breast:
30	chr10:5606135..5606698-chr10:5627266..5627800,2	MCF-7	breast:
31	chr10:5606603..5608938-chr10:5627234..5631685,4	MCF-7	breast:
32	chr10:5621478..5624080-chr10:5625841..5627746,2	K562	blood:
33	chr10:5616258..5618078-chr10:5623406..5625241,2	K562	blood:
34	chr10:5622328..5624628-chr10:5935266..5938016,2	K562	blood:
35	chr10:5486586..5497147-chr10:5622068..5633259,25	MCF-7	breast:
36	chr10:5497463..5498986-chr10:5623708..5625714,2	MCF-7	breast:
37	chr10:5624520..5626694-chr10:5651576..5653939,2	K562	blood:
38	chr10:5488316..5491050-chr10:5609425..5610948,2	MCF-7	breast:
39	chr10:5584975..5598212-chr10:5621607..5634806,86	MCF-7	breast:
40	chr10:5621513..5624174-chr10:5725721..5728063,2	MCF-7	breast:
41	chr10:5622553..5625678-chr10:5643794..5647662,4	MCF-7	breast:
42	chr10:5616972..5619862-chr10:5631106..5633140,2	K562	blood:
43	chr10:4857671..4858400-chr10:5624407..5624994,2	K562	blood:
44	chr10:5535730..5537593-chr10:5625752..5627612,2	MCF-7	breast:
45	chr10:5610864..5613331-chr10:5629489..5631298,2	K562	blood:
46	chr10:5629667..5631405-chr10:5641253..5642832,2	MCF-7	breast:
47	chr10:5610864..5613331-chr10:5629489..5631298,2	K562	blood:
48	chr10:5612030..5614229-chr10:5627783..5630248,2	MCF-7	breast:
49	chr10:5629660..5633537-chr10:5634085..5636643,3	K562	blood:
50	chr10:5612848..5615764-chr10:5625126..5626757,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ASB13-5	chr10:5626954-5627110	NONHSAT011162

No data

Variant related genes	Relation type
ENSG00000228951	chromatin interactions
ENSG00000173848	chromatin interactions
ENSG00000108021	chromatin interactions
ENSG00000178372	chromatin interactions
ENSG00000231483	chromatin interactions
ENSG00000134452	chromatin interactions
ENSG00000196372	chromatin interactions
ENSG00000228685	chromatin interactions

Extended variants
information (count: 893 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:893 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4881483	chr10:5610349-5610350	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528541138	chr10:5610382-5610383	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs150220394	chr10:5610442-5610443	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs60208988	chr10:5610481-5610482	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs529969614	chr10:5610482-5610483	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs577332147	chr10:5610519-5610520	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs548056144	chr10:5610522-5610523	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs569902957	chr10:5610542-5610543	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs138681644	chr10:5610588-5610589	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs189833164	chr10:5610605-5610606	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs540180044	chr10:5610694-5610695	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs545162547	chr10:5610717-5610718	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs534704721	chr10:5610774-5610775	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs553643733	chr10:5610799-5610800	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs182413284	chr10:5610895-5610896	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs544660148	chr10:5610944-5610945	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs79264475	chr10:5610971-5610972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536029967	chr10:5610982-5610983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557703916	chr10:5611010-5611011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187042228	chr10:5611029-5611030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545884141	chr10:5611067-5611068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558131156	chr10:5611097-5611098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573300521	chr10:5611107-5611108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560120261	chr10:5611115-5611116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540316574	chr10:5611166-5611167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs116584013	chr10:5611194-5611195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529858776	chr10:5611199-5611200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188415584	chr10:5611276-5611277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs9423447	chr10:5611310-5611311	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs530785455	chr10:5611311-5611312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551931947	chr10:5611315-5611316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs117567619	chr10:5611328-5611329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528229052	chr10:5611336-5611337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs9423448	chr10:5611426-5611427	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs149354854	chr10:5611485-5611486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs180783808	chr10:5611493-5611494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557483285	chr10:5611564-5611565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569499381	chr10:5611577-5611578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs540118747	chr10:5611580-5611581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550022431	chr10:5611590-5611591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557903189	chr10:5611593-5611594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs9423449	chr10:5611602-5611603	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs560421102	chr10:5611628-5611629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs116300520	chr10:5611665-5611666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs555454457	chr10:5611706-5611707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573755175	chr10:5611728-5611729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs138528716	chr10:5611737-5611738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs35360455	chr10:5611748-5611749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs9423450	chr10:5611804-5611805	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs78591999	chr10:5611854-5611855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Ovarian cancer	22355333	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:552 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5605200-5611200	Enhancers	HMEC	breast
2	chr10:5607200-5611800	Weak transcription	K562	blood
3	chr10:5607400-5612200	Weak transcription	Lung	lung
4	chr10:5607400-5614600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr10:5608200-5612200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr10:5608200-5612200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr10:5608400-5610600	Enhancers	HepG2	liver
8	chr10:5608600-5615800	Weak transcription	HSMMtube	muscle
9	chr10:5608800-5610400	Enhancers	Fetal Intestine Large	intestine
10	chr10:5608800-5612200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr10:5608800-5614400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr10:5609000-5617200	Weak transcription	NHDF-Ad	bronchial
13	chr10:5609200-5610400	Enhancers	Duodenum Mucosa	Duodenum
14	chr10:5609200-5610600	Enhancers	Fetal Intestine Small	intestine
15	chr10:5609200-5614200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr10:5609400-5612600	Weak transcription	Liver	Liver
17	chr10:5609400-5614200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr10:5609600-5614200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr10:5610200-5616000	Weak transcription	Fetal Stomach	stomach
20	chr10:5610400-5612800	Weak transcription	Fetal Intestine Large	intestine
21	chr10:5610400-5613000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr10:5610600-5611000	Weak transcription	HepG2	liver
23	chr10:5610600-5613200	Weak transcription	Fetal Intestine Small	intestine
24	chr10:5611000-5612000	Enhancers	HepG2	liver
25	chr10:5611200-5614000	Weak transcription	HMEC	breast
26	chr10:5611800-5612200	Enhancers	K562	blood
27	chr10:5612000-5612400	Flanking Active TSS	HepG2	liver
28	chr10:5612000-5616000	Weak transcription	Right Atrium	heart
29	chr10:5612200-5612600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr10:5612200-5612600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr10:5612200-5612600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr10:5612200-5612800	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr10:5612200-5612800	Enhancers	Lung	lung
34	chr10:5612400-5613400	Enhancers	HepG2	liver
35	chr10:5612600-5614200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr10:5612600-5617600	Enhancers	Liver	Liver
37	chr10:5612800-5614200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr10:5612800-5619400	Enhancers	Fetal Intestine Large	intestine
39	chr10:5613000-5614800	Enhancers	Duodenum Mucosa	Duodenum
40	chr10:5613200-5613800	Enhancers	Stomach Mucosa	stomach
41	chr10:5613200-5617200	Enhancers	Fetal Intestine Small	intestine
42	chr10:5613400-5613600	Enhancers	Stomach Smooth Muscle	stomach
43	chr10:5613400-5613800	Enhancers	Colonic Mucosa	Colon
44	chr10:5613400-5614000	Flanking Active TSS	HepG2	liver
45	chr10:5613800-5614600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
46	chr10:5613800-5616600	Weak transcription	Colonic Mucosa	Colon
47	chr10:5613800-5621400	Weak transcription	Stomach Mucosa	stomach
48	chr10:5614000-5616200	Enhancers	HepG2	liver
49	chr10:5614000-5619200	Enhancers	HMEC	breast
50	chr10:5614200-5615000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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