Variant report

Variant	nsv947780
Chromosome Location	chr10:26979830-26984578
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr10:26980191-26980254	K562	blood:	n/a	n/a
2	CTCF	chr10:26980300-26980450	GM12878	blood:	n/a	n/a
3	EP300	chr10:26981632-26981766	K562	blood:	n/a	n/a
4	FOS	chr10:26979924-26979943	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr10:26983592-26983822	MCF10A-Er-Src	breast:	n/a	chr10:26983705-26983712 chr10:26983704-26983713 chr10:26983704-26983712
6	FOS	chr10:26983592-26983888	MCF10A-Er-Src	breast:	n/a	chr10:26983705-26983712 chr10:26983704-26983713 chr10:26983704-26983712
7	MAX	chr10:26980126-26980353	K562	blood:	n/a	n/a
8	POLR2A	chr10:26983619-26983695	HUVEC	blood vessel:	n/a	n/a
9	STAT3	chr10:26979880-26980011	MCF10A-Er-Src	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:26983600-26983650	SK-N-MC	brain:	n/a
2	chr10:26983600-26983650	AG04450	lung:	fetal
3	chr10:26983600-26983650	NH-A	brain:	n/a
4	chr10:26983600-26983650	NT2-D1	testis:	n/a
5	chr10:26983600-26983650	ProgFib	skin:	n/a
6	chr10:26983600-26983650	Hela-S3	cervix:	n/a
7	chr10:26983600-26983650	HCPEpiC	choroid plexus:	n/a
8	chr10:26983600-26983650	SK-N-SH	brain:	n/a
9	chr10:26983600-26983650	NB4	blood:	n/a
10	chr10:26983600-26983650	HRCEpiC	kidney:	n/a
11	chr10:26983600-26983650	AG04449	skin:	fetal
12	chr10:26983600-26983650	HEEpiC	esophagus:	n/a
13	chr10:26983600-26983650	HIPEpiC	eye:	n/a
14	chr10:26983600-26983650	RPTEC	kidney:	n/a
15	chr10:26983600-26983650	H1-hESC	embryonic stem cell:	embryo
16	chr10:26983600-26983650	PANC-1	pancreas:	n/a
17	chr10:26983600-26983650	K562	blood:	n/a
18	chr10:26983600-26983650	GM12892	blood:	n/a
19	chr10:26983600-26983650	HNPCEpiC	eye:	n/a
20	chr10:26983600-26983650	ECC-1	luminal epithelium:	n/a
21	chr10:26983600-26983650	LNCaP	prostate:	n/a
22	chr10:26983600-26983650	Hepatocyte	liver:	n/a
23	chr10:26983600-26983650	AoSMC	blood vessel:	n/a
24	chr10:26983600-26983650	MCF10A-Er-Src	breast:	n/a
25	chr10:26983600-26983650	SK-N-SH_RA	brain:	n/a
26	chr10:26983600-26983650	BE2_C	brain:	n/a
27	chr10:26983600-26983650	U87	brain:	n/a
28	chr10:26983600-26983650	PrEC	prostate:	n/a
29	chr10:26983600-26983650	BJ	skin:	n/a
30	chr10:26983600-26983650	HRPEpiC	eye:	n/a
31	chr10:26983600-26983650	SKMC	muscle:	n/a
32	chr10:26983600-26983650	GM12891	blood:	n/a
33	chr10:26983600-26983650	GM06990	blood:	n/a
34	chr10:26983600-26983650	T-47D	breast:	n/a
35	chr10:26983600-26983650	CMK	blood:	n/a
36	chr10:26983600-26983650	HRE	kidney:	n/a
37	chr10:26983600-26983650	HCT-116	colon:	n/a
38	chr10:26983600-26983650	AG10803	skin:	n/a
39	chr10:26983600-26983650	HAEpiC	amniotic membrane:	n/a
40	chr10:26983600-26983650	Jurkat	blood:	n/a
41	chr10:26983600-26983650	Caco-2	colon:	n/a
42	chr10:26983600-26983650	NHBE	bronchial:	n/a
43	chr10:26983600-26983650	HUVEC	blood vessel:	n/a
44	chr10:26983600-26983650	NHDF-neo	bronchial:	n/a
45	chr10:26983600-26983650	AG09319	gingival:	n/a
46	chr10:26983600-26983650	GM19239	blood:	n/a
47	chr10:26983600-26983650	A549	lung:	n/a
48	chr10:26983600-26983650	IMR90	lung:	fetal
49	chr10:26983600-26983650	PFSK-1	brain:	n/a
50	chr10:26983600-26983650	HepG2	liver:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:26979944..26983109-chr10:26984592..26988021,5	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PDSS1-3	chr10:26982000-26982046	NONHSAT011855
2	lnc-ABI1-7	chr10:26984020-26986554	NONHSAT011856
3	lnc-PDSS1-3	chr10:26982000-26982389	NONHSAT011854
4	lnc-PDSS1-3	chr10:26982000-26982381	NONHSAT011853

No data

Variant related genes	Relation type
PDSS1	TF binding region
PDSS1	CpG island
ENSG00000148459	chromatin interactions

Extended variants
information (count: 215 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:215 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565470378	chr10:26979840-26979841	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs111566570	chr10:26979865-26979866	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs2477288	chr10:26979866-26979867	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs561395271	chr10:26979894-26979895	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs530086878	chr10:26979922-26979923	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs190824508	chr10:26979935-26979936	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs557489156	chr10:26979992-26979993	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs532440090	chr10:26980021-26980022	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs79378505	chr10:26980060-26980061	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs2448120	chr10:26980070-26980071	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs537681430	chr10:26980138-26980139	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs2489593	chr10:26980168-26980169	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs567839766	chr10:26980185-26980186	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs140551761	chr10:26980200-26980201	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs113807360	chr10:26980204-26980205	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs373953247	chr10:26980237-26980238	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs375929349	chr10:26980277-26980278	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs117643815	chr10:26980281-26980282	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs559021597	chr10:26980285-26980286	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs575771418	chr10:26980300-26980301	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs2489592	chr10:26980332-26980333	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs555067207	chr10:26980343-26980344	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs182630366	chr10:26980359-26980360	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs2489591	chr10:26980375-26980376	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs149278904	chr10:26980376-26980377	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs532444993	chr10:26980430-26980431	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs533721114	chr10:26980454-26980455	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs187578693	chr10:26980475-26980476	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs4749179	chr10:26980497-26980498	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs146953228	chr10:26980506-26980507	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs543232232	chr10:26980510-26980511	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs137950128	chr10:26980633-26980634	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs201816442	chr10:26980643-26980644	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs200486431	chr10:26980644-26980645	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs201709138	chr10:26980645-26980646	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs5783985	chr10:26980646-26980647	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs386742170	chr10:26980647-26980648	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs5026125	chr10:26980649-26980650	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs372813026	chr10:26980679-26980680	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs143415926	chr10:26980712-26980713	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs12268014	chr10:26980749-26980750	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs1780175	chr10:26980750-26980751	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs534346011	chr10:26980755-26980756	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs553936869	chr10:26980773-26980774	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs532188372	chr10:26980794-26980795	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs369662605	chr10:26980808-26980809	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs192462087	chr10:26980809-26980810	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs79173018	chr10:26980865-26980866	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs386742171	chr10:26980875-26980876	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs1677735	chr10:26980877-26980878	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:41)

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

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:26977600-26981200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr10:26978200-26980200	Enhancers	Fetal Thymus	thymus
3	chr10:26978400-26980000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr10:26978600-26980800	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr10:26978600-26985400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr10:26978800-26985400	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr10:26978800-26985600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr10:26978800-26985600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr10:26979400-26985000	Weak transcription	Thymus	Thymus
10	chr10:26979600-26980000	Enhancers	K562	blood
11	chr10:26980000-26980600	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr10:26980000-26985200	Weak transcription	K562	blood
13	chr10:26980200-26980400	Enhancers	Primary B cells from cord blood	blood
14	chr10:26980200-26985600	Weak transcription	Fetal Thymus	thymus
15	chr10:26980600-26981000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr10:26980800-26985000	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr10:26981000-26981400	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr10:26981200-26984200	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr10:26981400-26984200	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr10:26983000-26983800	Enhancers	HSMM	muscle
21	chr10:26983000-26984000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr10:26983200-26983400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr10:26983200-26983400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr10:26983200-26983800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr10:26983200-26984400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr10:26983600-26983800	Enhancers	NHEK	skin
27	chr10:26983600-26984000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr10:26983800-26985600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr10:26983800-26985600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr10:26983800-26985600	Weak transcription	HSMM	muscle
31	chr10:26983800-26985600	Weak transcription	NHEK	skin
32	chr10:26984000-26984200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr10:26984000-26985600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr10:26984200-26985400	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr10:26984200-26985600	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr10:26984200-26985600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr10:26984400-26985600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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