Variant report

Variant	nsv894801
Chromosome Location	chr10:5600202-5631737
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:88)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:88 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr10:5598840..5600592-chr10:5600900..5603506,2	K562	blood:
2	chr10:5629660..5633537-chr10:5634085..5636643,3	K562	blood:
3	chr10:5624309..5631245-chr10:5648674..5654250,8	MCF-7	breast:
4	chr10:5630058..5631900-chr10:5703072..5705315,2	MCF-7	breast:
5	chr10:5631327..5633176-chr10:5653154..5654967,2	MCF-7	breast:
6	chr10:5488122..5490647-chr10:5604712..5607837,4	MCF-7	breast:
7	chr10:5606603..5608938-chr10:5627234..5631685,4	MCF-7	breast:
8	chr10:5598840..5600592-chr10:5600900..5603506,2	K562	blood:
9	chr10:5504077..5506564-chr10:5616336..5618283,2	K562	blood:
10	chr10:5593038..5596682-chr10:5605799..5608006,4	MCF-7	breast:
11	chr10:5631393..5632960-chr10:5641583..5643544,2	MCF-7	breast:
12	chr10:5611302..5613538-chr10:5641656..5643711,2	MCF-7	breast:
13	chr10:5614636..5617261-chr10:5635762..5637348,3	K562	blood:
14	chr10:5486586..5497147-chr10:5622068..5633259,25	MCF-7	breast:
15	chr10:5531559..5534343-chr10:5598627..5601561,2	K562	blood:
16	chr10:5611483..5614469-chr10:5622600..5625435,2	MCF-7	breast:
17	chr10:5508288..5510214-chr10:5604520..5606520,2	MCF-7	breast:
18	chr10:5584975..5598212-chr10:5621607..5634806,86	MCF-7	breast:
19	chr10:5606135..5606698-chr10:5627266..5627800,2	MCF-7	breast:
20	chr10:5487228..5489563-chr10:5631145..5633414,3	K562	blood:
21	chr10:5573411..5576339-chr10:5606332..5608916,2	K562	blood:
22	chr10:5624223..5628705-chr10:5705947..5708974,4	MCF-7	breast:
23	chr10:5623488..5628108-chr10:5662504..5666628,7	MCF-7	breast:
24	chr10:5533762..5535661-chr10:5631397..5633599,2	MCF-7	breast:
25	chr10:5606603..5608938-chr10:5627234..5631685,4	MCF-7	breast:
26	chr10:5505541..5510842-chr10:5625752..5629034,6	MCF-7	breast:
27	chr10:5599218..5601467-chr10:5626638..5630611,4	MCF-7	breast:
28	chr10:5541034..5543833-chr10:5624036..5628974,4	MCF-7	breast:
29	chr10:5621478..5624080-chr10:5625841..5627746,2	K562	blood:
30	chr10:5588926..5596967-chr10:5614767..5621599,13	MCF-7	breast:
31	chr10:5606135..5606698-chr10:5627266..5627800,2	MCF-7	breast:
32	chr10:5590216..5591949-chr10:5612041..5614492,2	MCF-7	breast:
33	chr10:5597404..5599365-chr10:5605126..5607018,2	K562	blood:
34	chr10:5519492..5522236-chr10:5601737..5603732,2	K562	blood:
35	chr10:5602399..5604933-chr10:5614544..5616232,2	K562	blood:
36	chr10:5616258..5618078-chr10:5623406..5625241,2	K562	blood:
37	chr10:5558375..5560423-chr10:5631236..5633723,2	MCF-7	breast:
38	chr10:5606200..5608461-chr10:5634669..5639030,3	K562	blood:
39	chr10:5616972..5619862-chr10:5631106..5633140,2	K562	blood:
40	chr10:5622553..5625678-chr10:5643794..5647662,4	MCF-7	breast:
41	chr10:5610864..5613331-chr10:5629489..5631298,2	K562	blood:
42	chr10:5535730..5537593-chr10:5625752..5627612,2	MCF-7	breast:
43	chr10:5488316..5491050-chr10:5609425..5610948,2	MCF-7	breast:
44	chr10:5612030..5614229-chr10:5627783..5630248,2	MCF-7	breast:
45	chr10:5616258..5618078-chr10:5623406..5625241,2	K562	blood:
46	chr10:5482726..5485954-chr10:5624615..5627364,3	MCF-7	breast:
47	chr10:5589141..5591832-chr10:5607489..5609696,2	MCF-7	breast:
48	chr10:5612848..5615764-chr10:5625126..5626757,2	K562	blood:
49	chr10:5495552..5497804-chr10:5602669..5605411,3	MCF-7	breast:
50	chr10:5501498..5504725-chr10:5609054..5611930,3	K562	blood:

(count:5 , 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
3	lnc-CALML5-4	chr10:5606320-5606443	XLOC_008709
4	lnc-CALML5-4	chr10:5605288-5605524	XLOC_008709
5	lnc-CALML5-5	chr10:5606767-5607268	XLOC_008710

No data

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

Extended variants
information (count: 1540 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1540 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11253229	chr10:5600202-5600203	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs560896080	chr10:5600211-5600212	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs531353196	chr10:5600212-5600213	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs376110358	chr10:5600235-5600236	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs77787882	chr10:5600241-5600242	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs571541441	chr10:5600248-5600249	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs200869781	chr10:5600249-5600250	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs532547108	chr10:5600265-5600266	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs547556059	chr10:5600267-5600268	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs372278610	chr10:5600277-5600278	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs566047591	chr10:5600283-5600284	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs563866809	chr10:5600284-5600285	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs536908748	chr10:5600294-5600295	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs548294734	chr10:5600312-5600313	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs376927000	chr10:5600313-5600314	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs570027590	chr10:5600329-5600330	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs148235865	chr10:5600397-5600398	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs186436458	chr10:5600404-5600405	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs532849262	chr10:5600411-5600412	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs538854275	chr10:5600412-5600413	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs553971183	chr10:5600418-5600419	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs572256403	chr10:5600449-5600450	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs542907577	chr10:5600451-5600452	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs34621538	chr10:5600458-5600459	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs141268552	chr10:5600460-5600461	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs575976887	chr10:5600461-5600462	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs543141822	chr10:5600489-5600490	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs564661883	chr10:5600529-5600530	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs532043181	chr10:5600530-5600531	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs547592372	chr10:5600539-5600540	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs559850845	chr10:5600574-5600575	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs530371009	chr10:5600581-5600582	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs548852687	chr10:5600585-5600586	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs569982006	chr10:5600617-5600618	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs530927361	chr10:5600654-5600655	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs11594248	chr10:5600686-5600687	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs552573295	chr10:5600691-5600692	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs61834860	chr10:5600704-5600705	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs535075050	chr10:5600722-5600723	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs373454642	chr10:5600741-5600742	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs572196946	chr10:5600743-5600744	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs72781949	chr10:5600854-5600855	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs190848173	chr10:5600858-5600859	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs576230047	chr10:5600883-5600884	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs528756203	chr10:5600891-5600892	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs543029825	chr10:5600893-5600894	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs564499624	chr10:5600918-5600919	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs576531354	chr10:5600924-5600925	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs540723767	chr10:5600947-5600948	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs559734952	chr10:5600959-5600960	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	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:943 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5588400-5608200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr10:5591400-5605400	Weak transcription	Right Atrium	heart
3	chr10:5593400-5601600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr10:5593600-5601000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr10:5594600-5601400	Weak transcription	HSMMtube	muscle
6	chr10:5595200-5604800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr10:5595600-5606200	Weak transcription	Spleen	Spleen
8	chr10:5596600-5601400	Weak transcription	HSMM	muscle
9	chr10:5596600-5601400	Weak transcription	NHEK	skin
10	chr10:5596600-5605400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr10:5596800-5600800	Weak transcription	NHDF-Ad	bronchial
12	chr10:5596800-5601000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr10:5596800-5601200	Weak transcription	A549	lung
14	chr10:5596800-5601400	Weak transcription	Fetal Thymus	thymus
15	chr10:5596800-5601800	Weak transcription	Fetal Brain Female	brain
16	chr10:5596800-5601800	Weak transcription	HMEC	breast
17	chr10:5596800-5603600	Enhancers	HepG2	liver
18	chr10:5597000-5600600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr10:5597000-5600800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr10:5597000-5601400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr10:5597000-5601600	Weak transcription	Primary T cells from cord blood	blood
22	chr10:5597000-5603400	Enhancers	Stomach Smooth Muscle	stomach
23	chr10:5597200-5600600	Weak transcription	Fetal Muscle Leg	muscle
24	chr10:5597200-5600800	Weak transcription	Osteobl	bone
25	chr10:5597200-5601200	Weak transcription	HUVEC	blood vessel
26	chr10:5597200-5601800	Weak transcription	Fetal Lung	lung
27	chr10:5597400-5601600	Weak transcription	Hela-S3	cervix
28	chr10:5597400-5602200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr10:5597600-5601600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr10:5597600-5606000	Weak transcription	Gastric	stomach
31	chr10:5597800-5605400	Weak transcription	Esophagus	oesophagus
32	chr10:5598600-5600400	Enhancers	Ovary	ovary
33	chr10:5598800-5600800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr10:5599000-5601600	Weak transcription	K562	blood
35	chr10:5599000-5603200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr10:5599200-5604200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr10:5599400-5600600	Enhancers	Aorta	Aorta
38	chr10:5599400-5600800	Weak transcription	Colon Smooth Muscle	Colon
39	chr10:5599400-5602800	Weak transcription	Fetal Intestine Small	intestine
40	chr10:5599600-5600600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr10:5599600-5603000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr10:5599800-5601400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr10:5599800-5601800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr10:5599800-5602400	Enhancers	Rectal Smooth Muscle	rectum
45	chr10:5599800-5605600	Weak transcription	Fetal Intestine Large	intestine
46	chr10:5600000-5601600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr10:5600000-5601800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr10:5600000-5602600	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr10:5600000-5603600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr10:5600200-5601600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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