Variant report

Variant	nsv894802
Chromosome Location	chr10:5608202-5631737
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:68)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:68 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr10:5625746..5627987-chr10:5645084..5647138,2	MCF-7	breast:
2	chr10:5611483..5614469-chr10:5622600..5625435,2	MCF-7	breast:
3	chr10:5629667..5631405-chr10:5641253..5642832,2	MCF-7	breast:
4	chr10:5625670..5627432-chr10:5629113..5631880,2	K562	blood:
5	chr10:5612030..5614229-chr10:5627783..5630248,2	MCF-7	breast:
6	chr10:5543933..5545635-chr10:5625422..5627089,2	MCF-7	breast:
7	chr10:5621478..5624080-chr10:5625841..5627746,2	K562	blood:
8	chr10:5558375..5560423-chr10:5631236..5633723,2	MCF-7	breast:
9	chr10:5624590..5636573-chr10:5652742..5661113,15	MCF-7	breast:
10	chr10:5533762..5535661-chr10:5631397..5633599,2	MCF-7	breast:
11	chr10:5482726..5485954-chr10:5624615..5627364,3	MCF-7	breast:
12	chr10:5616972..5619862-chr10:5631106..5633140,2	K562	blood:
13	chr10:5616258..5618078-chr10:5623406..5625241,2	K562	blood:
14	chr10:5602399..5604933-chr10:5614544..5616232,2	K562	blood:
15	chr10:5488316..5491050-chr10:5609425..5610948,2	MCF-7	breast:
16	chr10:5599218..5601467-chr10:5626638..5630611,4	MCF-7	breast:
17	chr10:5612030..5614229-chr10:5627783..5630248,2	MCF-7	breast:
18	chr10:5541034..5543833-chr10:5624036..5628974,4	MCF-7	breast:
19	chr10:5606603..5608938-chr10:5627234..5631685,4	MCF-7	breast:
20	chr10:5624520..5626694-chr10:5651576..5653939,2	K562	blood:
21	chr10:5590216..5591949-chr10:5612041..5614492,2	MCF-7	breast:
22	chr10:5630058..5631900-chr10:5703072..5705315,2	MCF-7	breast:
23	chr10:5625670..5627432-chr10:5629113..5631880,2	K562	blood:
24	chr10:5596817..5599618-chr10:5614255..5615929,2	K562	blood:
25	chr10:5527980..5531416-chr10:5628213..5631359,3	MCF-7	breast:
26	chr10:5622553..5625678-chr10:5643794..5647662,4	MCF-7	breast:
27	chr10:5616258..5618078-chr10:5623406..5625241,2	K562	blood:
28	chr10:5505541..5510842-chr10:5625752..5629034,6	MCF-7	breast:
29	chr10:5604398..5606617-chr10:5607814..5609704,2	K562	blood:
30	chr10:5606603..5608938-chr10:5627234..5631685,4	MCF-7	breast:
31	chr10:5523297..5525984-chr10:5626929..5628566,2	MCF-7	breast:
32	chr10:5497463..5498986-chr10:5623708..5625714,2	MCF-7	breast:
33	chr10:5612848..5615764-chr10:5625126..5626757,2	K562	blood:
34	chr10:5610864..5613331-chr10:5629489..5631298,2	K562	blood:
35	chr10:5624309..5631245-chr10:5648674..5654250,8	MCF-7	breast:
36	chr10:5623488..5628108-chr10:5662504..5666628,7	MCF-7	breast:
37	chr10:5486586..5497147-chr10:5622068..5633259,25	MCF-7	breast:
38	chr10:5584975..5598212-chr10:5621607..5634806,86	MCF-7	breast:
39	chr10:4857671..4858400-chr10:5624407..5624994,2	K562	blood:
40	chr10:5606135..5606698-chr10:5627266..5627800,2	MCF-7	breast:
41	chr10:5629660..5633537-chr10:5634085..5636643,3	K562	blood:
42	chr10:5573411..5576339-chr10:5606332..5608916,2	K562	blood:
43	chr10:5501498..5505039-chr10:5609054..5612377,4	K562	blood:
44	chr10:5612848..5615764-chr10:5625126..5626757,2	K562	blood:
45	chr10:5614636..5617261-chr10:5635762..5637348,3	K562	blood:
46	chr10:5535730..5537593-chr10:5625752..5627612,2	MCF-7	breast:
47	chr10:5487228..5489563-chr10:5631145..5633414,3	K562	blood:
48	chr10:5611483..5614469-chr10:5622600..5625435,2	MCF-7	breast:
49	chr10:5588648..5590183-chr10:5612214..5614608,2	MCF-7	breast:
50	chr10:5529211..5535200-chr10:5622519..5627906,7	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ASB13-5	chr10:5626954-5627110	NONHSAT011162
2	lnc-CALML5-5	chr10:5608499-5608680	XLOC_008710

No data

Variant related genes	Relation type
ENSG00000134452	chromatin interactions
ENSG00000108021	chromatin interactions
ENSG00000228951	chromatin interactions
ENSG00000242147	chromatin interactions
ENSG00000173848	chromatin interactions
ENSG00000231483	chromatin interactions
ENSG00000196372	chromatin interactions
ENSG00000178372	chromatin interactions
ENSG00000228685	chromatin interactions

Extended variants
information (count: 1082 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1082 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7899101	chr10:5608202-5608203	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	disease
2	rs550041178	chr10:5608219-5608220	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs571822294	chr10:5608264-5608265	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs532557517	chr10:5608271-5608272	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs547435704	chr10:5608297-5608298	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs77281292	chr10:5608305-5608306	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs145581872	chr10:5608361-5608362	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs147307257	chr10:5608380-5608381	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs368802695	chr10:5608383-5608384	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs567449344	chr10:5608461-5608462	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs140387592	chr10:5608501-5608502	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs370899218	chr10:5608508-5608509	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs577503214	chr10:5608514-5608515	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs188928317	chr10:5608515-5608516	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs369609668	chr10:5608517-5608518	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs553441277	chr10:5608518-5608519	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs72781955	chr10:5608606-5608607	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs542299936	chr10:5608620-5608621	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs375086789	chr10:5608628-5608629	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs548962175	chr10:5608631-5608632	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs533290424	chr10:5608715-5608716	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs531809987	chr10:5608726-5608727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543622129	chr10:5608727-5608728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs9423658	chr10:5608741-5608742	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs532651458	chr10:5608743-5608744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547815320	chr10:5608755-5608756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs74871995	chr10:5608760-5608761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530249704	chr10:5608780-5608781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548677102	chr10:5608787-5608788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570136794	chr10:5608800-5608801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs539043747	chr10:5608804-5608805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs372143511	chr10:5608810-5608811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs193260688	chr10:5608840-5608841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs554122465	chr10:5608841-5608842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571521041	chr10:5608893-5608894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs77154651	chr10:5608978-5608979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs553766008	chr10:5609044-5609045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571685836	chr10:5609096-5609097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542188027	chr10:5609098-5609099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554261843	chr10:5609107-5609108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575693799	chr10:5609139-5609140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs149704031	chr10:5609185-5609186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565337059	chr10:5609204-5609205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536131412	chr10:5609205-5609206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs200413664	chr10:5609210-5609211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577504624	chr10:5609224-5609225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541345526	chr10:5609237-5609238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs559811515	chr10:5609244-5609245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs7100069	chr10:5609254-5609255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148403113	chr10:5609262-5609263	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:640 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5602600-5609400	Weak transcription	A549	lung
2	chr10:5605200-5608800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr10:5605200-5611200	Enhancers	HMEC	breast
4	chr10:5605400-5608600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr10:5605400-5608600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr10:5605400-5608600	Bivalent Enhancer	Fetal Muscle Leg	muscle
7	chr10:5605400-5608600	Enhancers	HSMMtube	muscle
8	chr10:5605400-5608800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr10:5605400-5608800	Enhancers	NH-A	brain
10	chr10:5605400-5609000	Enhancers	NHDF-Ad	bronchial
11	chr10:5605400-5609200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr10:5605600-5608800	Enhancers	Fetal Thymus	thymus
13	chr10:5605600-5609000	Weak transcription	Right Atrium	heart
14	chr10:5606000-5608400	Enhancers	Esophagus	oesophagus
15	chr10:5606000-5609400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr10:5606200-5609000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr10:5606600-5608400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr10:5606600-5608800	Enhancers	Osteobl	bone
19	chr10:5606800-5608400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr10:5606800-5608800	Enhancers	Primary T cells fromperipheralblood	blood
21	chr10:5606800-5608800	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr10:5607000-5608400	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr10:5607000-5608800	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr10:5607000-5608800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr10:5607000-5609200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr10:5607200-5609000	Enhancers	Primary T cells from cord blood	blood
27	chr10:5607200-5609200	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr10:5607200-5611800	Weak transcription	K562	blood
29	chr10:5607400-5608400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr10:5607400-5612200	Weak transcription	Lung	lung
31	chr10:5607400-5614600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr10:5607600-5608600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr10:5607600-5608800	Weak transcription	Fetal Intestine Large	intestine
34	chr10:5607600-5609200	Weak transcription	Fetal Intestine Small	intestine
35	chr10:5608000-5608400	Bivalent Enhancer	HepG2	liver
36	chr10:5608000-5608600	Flanking Active TSS	HSMM	muscle
37	chr10:5608000-5609000	Weak transcription	Fetal Stomach	stomach
38	chr10:5608200-5608600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr10:5608200-5608600	Flanking Active TSS	NHEK	skin
40	chr10:5608200-5609000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr10:5608200-5609600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr10:5608200-5609800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr10:5608200-5612200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr10:5608200-5612200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr10:5608400-5608800	Enhancers	Muscle Satellite Cultured Cells	--
46	chr10:5608400-5610600	Enhancers	HepG2	liver
47	chr10:5608600-5609000	Enhancers	HSMM	muscle
48	chr10:5608600-5609600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr10:5608600-5610000	Enhancers	NHEK	skin
50	chr10:5608600-5615800	Weak transcription	HSMMtube	muscle

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