Variant report

Variant	nsv947403
Chromosome Location	chr1:247405484-247419518
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr1:247409672-247409965	K562	blood:	n/a	n/a
2	CBX3	chr1:247409665-247409988	K562	blood:	n/a	n/a
3	CEBPB	chr1:247407042-247407310	IMR90	lung:	n/a	chr1:247407201-247407218
4	CTCF	chr1:247406299-247406306	GM13976	blood:	n/a	n/a
5	IRF1	chr1:247409825-247409970	K562	blood:	n/a	n/a
6	KAP1	chr1:247409624-247410053	K562	blood:	n/a	n/a
7	POLR2A	chr1:247406012-247406080	Gliobla	brain:	n/a	n/a
8	POLR2A	chr1:247406049-247406076	A549	lung:	n/a	n/a
9	SETDB1	chr1:247409477-247409961	U2OS	brain:	n/a	n/a
10	STAT3	chr1:247414390-247414431	MCF10A-Er-Src	breast:	n/a	n/a
11	USF1	chr1:247407337-247407527	K562	blood:	n/a	n/a
12	USF1	chr1:247419439-247419716	H1-hESC	embryonic stem cell:	n/a	n/a
13	USF2	chr1:247416707-247416924	H1-hESC	embryonic stem cell:	n/a	n/a
14	ZNF143	chr1:247409745-247409984	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:247418074-247418124	HPAEpiC	pulmonary alveolar:	n/a
2	chr1:247418074-247418124	Hela-S3	cervix:	n/a
3	chr1:247418074-247418124	HAEpiC	amniotic membrane:	n/a
4	chr1:247418074-247418124	HCPEpiC	choroid plexus:	n/a
5	chr1:247418074-247418124	BJ	skin:	n/a
6	chr1:247418074-247418124	HCF	heart:	n/a
7	chr1:247418074-247418124	HCM	heart:	n/a
8	chr1:247418074-247418124	K562	blood:	n/a
9	chr1:247418074-247418124	HEEpiC	esophagus:	n/a
10	chr1:247418074-247418124	RPTEC	kidney:	n/a
11	chr1:247418074-247418124	NT2-D1	testis:	n/a
12	chr1:247418074-247418124	AoSMC	blood vessel:	n/a
13	chr1:247418074-247418124	ProgFib	skin:	n/a
14	chr1:247418074-247418124	HCT-116	colon:	n/a
15	chr1:247418074-247418124	GM12878	blood:	n/a
16	chr1:247418074-247418124	HIPEpiC	eye:	n/a
17	chr1:247418074-247418124	Caco-2	colon:	n/a
18	chr1:247418074-247418124	PFSK-1	brain:	n/a
19	chr1:247418074-247418124	T-47D	breast:	n/a
20	chr1:247418074-247418124	HRE	kidney:	n/a
21	chr1:247418074-247418124	U87	brain:	n/a
22	chr1:247418074-247418124	PrEC	prostate:	n/a
23	chr1:247418074-247418124	Jurkat	blood:	n/a
24	chr1:247418074-247418124	GM19239	blood:	n/a
25	chr1:247418074-247418124	HEK293	kidney:	embryo
26	chr1:247418074-247418124	BE2_C	brain:	n/a
27	chr1:247418074-247418124	NB4	blood:	n/a
28	chr1:247418074-247418124	SKMC	muscle:	n/a
29	chr1:247418074-247418124	GM12892	blood:	n/a
30	chr1:247418074-247418124	PANC-1	pancreas:	n/a
31	chr1:247418074-247418124	ECC-1	luminal epithelium:	n/a
32	chr1:247418074-247418124	SK-N-SH	brain:	n/a
33	chr1:247418074-247418124	HUVEC	blood vessel:	n/a
34	chr1:247418074-247418124	MCF10A-Er-Src	breast:	n/a
35	chr1:247418074-247418124	AG09319	gingival:	n/a
36	chr1:247418074-247418124	AG04450	lung:	fetal
37	chr1:247418074-247418124	HNPCEpiC	eye:	n/a
38	chr1:247418074-247418124	AG10803	skin:	n/a
39	chr1:247418074-247418124	HRCEpiC	kidney:	n/a
40	chr1:247418074-247418124	A549	lung:	n/a
41	chr1:247418074-247418124	HepG2	liver:	n/a
42	chr1:247418074-247418124	NHBE	bronchial:	n/a
43	chr1:247418074-247418124	SK-N-MC	brain:	n/a
44	chr1:247418074-247418124	NHDF-neo	bronchial:	n/a
45	chr1:247418074-247418124	AG04449	skin:	fetal
46	chr1:247418074-247418124	GM06990	blood:	n/a
47	chr1:247418074-247418124	AG09309	skin:	n/a
48	chr1:247418074-247418124	HL-60	blood:	n/a
49	chr1:247418074-247418124	HRPEpiC	eye:	n/a
50	chr1:247418074-247418124	CMK	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr1:247392601..247395028-chr1:247403697..247405933,2	K562	blood:
2	chr1:247275409..247277041-chr1:247418740..247421372,2	K562	blood:
3	chr1:247395920..247398190-chr1:247413415..247415591,2	MCF-7	breast:
4	chr1:247392297..247394104-chr1:247407424..247409798,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000232347	TF binding region
VN1R5	TF binding region
VN1R17P	TF binding region
ENSG00000232347	CpG island
VN1R5	CpG island
VN1R17P	CpG island
ENSG00000221953	chromatin interactions
ENSG00000214144	chromatin interactions

Extended variants
information (count: 222 )
Associated
traits (count: 30 )

Variant overlapped rSNPs/rCNVs (count:222 , 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	rs181833269	chr1:247405502-247405503	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs147918094	chr1:247405528-247405529	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs187465250	chr1:247405629-247405630	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs527353288	chr1:247405712-247405713	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs189915302	chr1:247405801-247405802	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs553037723	chr1:247405882-247405883	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs115571052	chr1:247405890-247405891	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs72770400	chr1:247406021-247406022	Inactive region	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs186330131	chr1:247406032-247406033	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs190260027	chr1:247406037-247406038	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs141617789	chr1:247406306-247406307	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs112901795	chr1:247407034-247407035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553250114	chr1:247407045-247407046	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs542145308	chr1:247407048-247407049	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs146256485	chr1:247407054-247407055	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs139142147	chr1:247407059-247407060	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs377013924	chr1:247407072-247407073	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs149386225	chr1:247407092-247407093	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs144719784	chr1:247407094-247407095	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs565042347	chr1:247407137-247407138	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs532342456	chr1:247407211-247407212	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs547652230	chr1:247407240-247407241	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs369348259	chr1:247407261-247407262	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs77088438	chr1:247407269-247407270	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs530043938	chr1:247407305-247407306	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs148526059	chr1:247407415-247407416	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs559803906	chr1:247407429-247407430	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs552394160	chr1:247407438-247407439	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs570659895	chr1:247407459-247407460	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs534880254	chr1:247407502-247407503	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs553188496	chr1:247407525-247407526	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs568395477	chr1:247407533-247407534	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs535786623	chr1:247407595-247407596	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs189195044	chr1:247407605-247407606	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs1211885	chr1:247407612-247407613	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs543449640	chr1:247407655-247407656	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs192861509	chr1:247407656-247407657	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs562269664	chr1:247407661-247407662	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs551505100	chr1:247407667-247407668	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs560885943	chr1:247407670-247407671	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs116677427	chr1:247407672-247407673	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs369607275	chr1:247407679-247407680	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs559610141	chr1:247407694-247407695	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs183854461	chr1:247407777-247407778	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs61840513	chr1:247407829-247407830	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs147656471	chr1:247407848-247407849	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs375732490	chr1:247407946-247407947	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs530809641	chr1:247408037-247408038	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs11801091	chr1:247408138-247408139	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs570598779	chr1:247408146-247408147	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:30)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247407000-247407200	Enhancers	K562	blood
2	chr1:247409000-247409400	ZNF genes & repeats	Aorta	Aorta
3	chr1:247416200-247419600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:247419400-247420000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr1:247419400-247420000	Enhancers	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links