Variant report

Variant	nsv947777
Chromosome Location	chr10:26927480-26940308
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:115)
CpG islands
(count:672)
Chromatin interactive
region (count:0)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:115 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:26936670-26936828	GM19239	blood:	n/a	n/a
2	CTCF	chr10:26936680-26936830	AG09309	skin:	n/a	n/a
3	CTCF	chr10:26936640-26936790	NHEK	skin:	n/a	n/a
4	CTCF	chr10:26936662-26936814	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr10:26937295-26937388	GM10248	blood:	n/a	chr10:26937300-26937313
6	CTCF	chr10:26936680-26936830	GM12865	blood:	n/a	n/a
7	CTCF	chr10:26936837-26936914	GM10248	blood:	n/a	n/a
8	CTCF	chr10:26936680-26936830	GM12872	blood:	n/a	n/a
9	CTCF	chr10:26936660-26936810	GM12865	blood:	n/a	n/a
10	CTCF	chr10:26936660-26936810	GM12866	blood:	n/a	n/a
11	CTCF	chr10:26936660-26936810	GM12864	blood:	n/a	n/a
12	CTCF	chr10:26936660-26936810	GM12875	blood:	n/a	n/a
13	CTCF	chr10:26936660-26936810	SAEC	small airway:	n/a	n/a
14	CTCF	chr10:26936660-26936859	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr10:26936639-26936859	GM12892	blood:	n/a	n/a
16	CTCF	chr10:26936640-26936790	GM12874	blood:	n/a	n/a
17	CTCF	chr10:26936655-26936852	GM19238	blood:	n/a	n/a
18	CTCF	chr10:26936677-26936805	GM13977	blood:	n/a	n/a
19	CTCF	chr10:26937392-26937404	GM10248	blood:	n/a	n/a
20	CTCF	chr10:26936675-26936828	Fibrobl	skin:	n/a	n/a
21	CTCF	chr10:26932240-26932390	SK-N-SH_RA	brain:	n/a	n/a
22	CTCF	chr10:26936582-26936851	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr10:26934820-26934970	GM12865	blood:	n/a	n/a
24	CTCF	chr10:26936680-26936830	HepG2	liver:	n/a	n/a
25	CTCF	chr10:26936680-26936830	A549	lung:	n/a	n/a
26	CTCF	chr10:26934923-26934938	LNCaP	prostate:	n/a	n/a
27	CTCF	chr10:26934780-26934930	GM12869	blood:	n/a	n/a
28	CTCF	chr10:26936586-26936897	GM12878	blood:	n/a	n/a
29	CTCF	chr10:26936660-26936810	GM12869	blood:	n/a	n/a
30	CTCF	chr10:26934972-26935025	GM13976	blood:	n/a	n/a
31	CTCF	chr10:26936711-26936790	GM10266	blood:	n/a	n/a
32	CTCF	chr10:26936693-26936767	NHEK	skin:	n/a	n/a
33	CTCF	chr10:26934913-26934954	GM12878	blood:	n/a	n/a
34	CTCF	chr10:26936420-26936492	Kidney_OC	kidney:	n/a	n/a
35	CTCF	chr10:26936620-26936770	GM12868	blood:	n/a	n/a
36	CTCF	chr10:26936640-26936790	GM12872	blood:	n/a	n/a
37	CTCF	chr10:26936700-26936850	HFF-Myc	foreskin:	n/a	n/a
38	CTCF	chr10:26934800-26934950	GM12865	blood:	n/a	n/a
39	CTCF	chr10:26936600-26936750	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr10:26932280-26932430	SK-N-SH_RA	brain:	n/a	n/a
41	CTCF	chr10:26936600-26936750	GM12875	blood:	n/a	n/a
42	CTCF	chr10:26936660-26936810	GM12873	blood:	n/a	n/a
43	CTCF	chr10:26936680-26936830	GM06990	blood:	n/a	n/a
44	CTCF	chr10:26936640-26936790	GM06990	blood:	n/a	n/a
45	CTCF	chr10:26936554-26936889	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr10:26934880-26935030	GM06990	blood:	n/a	n/a
47	CTCF	chr10:26936539-26936834	MCF-7	breast:	n/a	n/a
48	CTCF	chr10:26936656-26936835	MCF-7	breast:	n/a	n/a
49	CTCF	chr10:26936600-26936750	GM12878	blood:	n/a	n/a
50	CTCF	chr10:26936678-26936812	GM19240	blood:	n/a	n/a

(count:672 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:26931912-26931962	A549	lung:	n/a
2	chr10:26931912-26931962	A549	lung:	n/a
3	chr10:26931794-26931844	AG09309	skin:	n/a
4	chr10:26931991-26932041	IMR90	lung:	fetal
5	chr10:26931978-26932028	IMR90	lung:	fetal
6	chr10:26931978-26932028	PrEC	prostate:	n/a
7	chr10:26931794-26931844	AoSMC	blood vessel:	n/a
8	chr10:26931731-26931781	ECC-1	luminal epithelium:	n/a
9	chr10:26931986-26932036	AG10803	skin:	n/a
10	chr10:26930863-26930913	AG04450	lung:	fetal
11	chr10:26931986-26932036	Jurkat	blood:	n/a
12	chr10:26931969-26932019	HUVEC	blood vessel:	n/a
13	chr10:26932057-26932107	HPAEpiC	pulmonary alveolar:	n/a
14	chr10:26931986-26932036	GM12891	blood:	n/a
15	chr10:26931912-26931962	NT2-D1	testis:	n/a
16	chr10:26931991-26932041	SK-N-SH_RA	brain:	n/a
17	chr10:26931991-26932041	HCT-116	colon:	n/a
18	chr10:26931926-26931976	HCT-116	colon:	n/a
19	chr10:26931986-26932036	HUVEC	blood vessel:	n/a
20	chr10:26932057-26932107	HAEpiC	amniotic membrane:	n/a
21	chr10:26931986-26932036	HepG2	liver:	n/a
22	chr10:26931991-26932041	Jurkat	blood:	n/a
23	chr10:26931731-26931781	HCM	heart:	n/a
24	chr10:26931794-26931844	GM19239	blood:	n/a
25	chr10:26931978-26932028	HEEpiC	esophagus:	n/a
26	chr10:26931794-26931844	GM12878	blood:	n/a
27	chr10:26931969-26932019	PrEC	prostate:	n/a
28	chr10:26931986-26932036	Hepatocyte	liver:	n/a
29	chr10:26931986-26932036	Caco-2	colon:	n/a
30	chr10:26932057-26932107	HCM	heart:	n/a
31	chr10:26931978-26932028	HRPEpiC	eye:	n/a
32	chr10:26931969-26932019	HCT-116	colon:	n/a
33	chr10:26931969-26932019	CMK	blood:	n/a
34	chr10:26932057-26932107	SAEC	small airway:	n/a
35	chr10:26931969-26932019	Caco-2	colon:	n/a
36	chr10:26931978-26932028	Jurkat	blood:	n/a
37	chr10:26931926-26931976	RPTEC	kidney:	n/a
38	chr10:26931926-26931976	HepG2	liver:	n/a
39	chr10:26931969-26932019	RPTEC	kidney:	n/a
40	chr10:26931991-26932041	NHDF-neo	bronchial:	n/a
41	chr10:26930863-26930913	GM19239	blood:	n/a
42	chr10:26930863-26930913	HepG2	liver:	n/a
43	chr10:26930863-26930913	GM12892	blood:	n/a
44	chr10:26931991-26932041	GM06990	blood:	n/a
45	chr10:26932036-26932086	Caco-2	colon:	n/a
46	chr10:26932036-26932086	HEK293	kidney:	embryo
47	chr10:26931794-26931844	HIPEpiC	eye:	n/a
48	chr10:26931912-26931962	HRCEpiC	kidney:	n/a
49	chr10:26931926-26931976	Jurkat	blood:	n/a
50	chr10:26931991-26932041	RPTEC	kidney:	n/a

No data

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PDSS1-1	chr10:26938261-26938522	ENSG00000231976
2	lnc-PDSS1-1	chr10:26933843-26933945	XLOC_008421
3	lnc-PDSS1-1	chr10:26939483-26939586	ENSG00000231976
4	lnc-PDSS1-1	chr10:26937187-26937211	NONHSAT011834
5	lnc-PDSS1-1	chr10:26937880-26937946	NONHSAT011834
6	lnc-PDSS1-1	chr10:26932157-26932525	XLOC_008421
7	lnc-PDSS1-1	chr10:26939483-26939691	NONHSAT011840

No data

Variant related genes	Relation type
LINC00202-2	TF binding region
ENSG00000234296	TF binding region
LINC00202-2	CpG island
ENSG00000234296	CpG island
DNMT1	miRNA target sites
PDGFRA	miRNA target sites

Extended variants
information (count: 785 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:785 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548283296	chr10:26927507-26927508	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568178566	chr10:26927527-26927528	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533765151	chr10:26927549-26927550	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551821399	chr10:26927567-26927568	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191954625	chr10:26927607-26927608	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373192425	chr10:26927610-26927611	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577092616	chr10:26927635-26927636	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182903186	chr10:26927649-26927650	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556234848	chr10:26927669-26927670	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185729892	chr10:26927673-26927674	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190438075	chr10:26927678-26927679	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561780708	chr10:26927683-26927684	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7910107	chr10:26927713-26927714	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs540496540	chr10:26927727-26927728	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560718789	chr10:26927737-26927738	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182658356	chr10:26927761-26927762	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546082157	chr10:26927763-26927764	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536606893	chr10:26927789-26927790	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562798397	chr10:26927807-26927808	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs531608266	chr10:26927825-26927826	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs548146503	chr10:26927833-26927834	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs188013968	chr10:26927841-26927842	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs192236844	chr10:26927849-26927850	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs565421934	chr10:26927851-26927852	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs184130851	chr10:26927857-26927858	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs527765297	chr10:26927880-26927881	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs188645108	chr10:26927921-26927922	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs570616473	chr10:26927946-26927947	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs78609345	chr10:26927951-26927952	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs547979125	chr10:26928005-26928006	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs568385815	chr10:26928006-26928007	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs192138494	chr10:26928010-26928011	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs115492380	chr10:26928061-26928062	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs1148159	chr10:26928067-26928068	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs555379543	chr10:26928108-26928109	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs146572959	chr10:26928153-26928154	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs141259803	chr10:26928159-26928160	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs149771474	chr10:26928160-26928161	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs577368752	chr10:26928164-26928165	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs184175180	chr10:26928188-26928189	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs562860502	chr10:26928245-26928246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557331156	chr10:26928258-26928259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369154979	chr10:26928279-26928280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369290594	chr10:26928287-26928288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531858525	chr10:26928328-26928329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187352612	chr10:26928360-26928361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1148160	chr10:26928383-26928384	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs191850145	chr10:26928517-26928518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547866189	chr10:26928593-26928594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145868441	chr10:26928605-26928606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:42)

Disease	PMID	Source
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
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Autism	21439084	CNVD
Maculopathy	20981449	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Adrenocortical carcinoma	18281524	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:26927000-26927800	Weak transcription	Thymus	Thymus
2	chr10:26927000-26928200	Active TSS	Fetal Thymus	thymus
3	chr10:26927800-26928200	Active TSS	Thymus	Thymus
4	chr10:26928200-26928800	Weak transcription	Thymus	Thymus
5	chr10:26928200-26929000	Weak transcription	Fetal Thymus	thymus
6	chr10:26928800-26929600	Enhancers	Thymus	Thymus
7	chr10:26929000-26929200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr10:26929000-26929600	Enhancers	Fetal Thymus	thymus
9	chr10:26929200-26929400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr10:26929400-26929600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr10:26929600-26934800	Weak transcription	Thymus	Thymus
12	chr10:26929600-26936400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr10:26930600-26936400	Weak transcription	Right Atrium	heart
14	chr10:26931600-26932800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr10:26932000-26932400	Enhancers	Gastric	stomach
16	chr10:26932000-26932600	Enhancers	K562	blood
17	chr10:26932000-26932800	Enhancers	Fetal Thymus	thymus
18	chr10:26932400-26934400	Weak transcription	Gastric	stomach
19	chr10:26932800-26934400	Weak transcription	Fetal Thymus	thymus
20	chr10:26934400-26935400	Enhancers	Fetal Thymus	thymus
21	chr10:26934400-26935400	Enhancers	Gastric	stomach
22	chr10:26934800-26935400	Genic enhancers	Thymus	Thymus
23	chr10:26934800-26935400	Enhancers	Spleen	Spleen
24	chr10:26934800-26938000	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr10:26935000-26937400	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr10:26935400-26936200	Weak transcription	Fetal Thymus	thymus
27	chr10:26935400-26936400	Weak transcription	Thymus	Thymus
28	chr10:26935400-26936600	Weak transcription	Spleen	Spleen
29	chr10:26935600-26936800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr10:26936200-26938000	Enhancers	Fetal Thymus	thymus
31	chr10:26936400-26936800	Enhancers	Thymus	Thymus
32	chr10:26936400-26937200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr10:26936600-26936800	Enhancers	Spleen	Spleen
34	chr10:26936800-26937000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr10:26936800-26937000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr10:26936800-26937000	Flanking Active TSS	Spleen	Spleen
37	chr10:26936800-26938000	Weak transcription	Thymus	Thymus
38	chr10:26937000-26937200	Enhancers	Spleen	Spleen
39	chr10:26937000-26940000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr10:26937200-26937600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr10:26937200-26942200	Weak transcription	Spleen	Spleen
42	chr10:26937600-26938000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr10:26938000-26938400	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr10:26938000-26939400	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr10:26939200-26939400	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr10:26939400-26939600	Enhancers	Primary monocytes fromperipheralblood	blood

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