Variant report

Variant	nsv549558
Chromosome Location	chr1:247279549-247281644
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr1:247278814-247282541	K562	blood:	n/a	n/a
2	CBX3	chr1:247279956-247280480	K562	blood:	n/a	n/a
3	CBX3	chr1:247280963-247282452	K562	blood:	n/a	n/a
4	CBX3	chr1:247279022-247279825	K562	blood:	n/a	n/a
5	CBX3	chr1:247280516-247280801	K562	blood:	n/a	n/a
6	NR2F2	chr1:247279103-247282442	K562	blood:	n/a	n/a
7	NR2F2	chr1:247279088-247280368	K562	blood:	n/a	n/a
8	NR2F2	chr1:247280413-247282550	K562	blood:	n/a	n/a
9	RXRA	chr1:247280566-247280975	HepG2	liver:	n/a	n/a
10	RXRA	chr1:247279603-247280012	HepG2	liver:	n/a	n/a
11	RXRA	chr1:247280062-247280554	HepG2	liver:	n/a	n/a
12	RXRA	chr1:247281025-247281405	HepG2	liver:	n/a	n/a
13	SIN3AK20	chr1:247280178-247280397	HepG2	liver:	n/a	n/a
14	SIN3AK20	chr1:247281141-247281315	HepG2	liver:	n/a	n/a
15	SIN3AK20	chr1:247280682-247280856	HepG2	liver:	n/a	n/a
16	SIN3AK20	chr1:247279719-247279893	HepG2	liver:	n/a	n/a
17	SP1	chr1:247279112-247279843	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:247274786..247276587-chr1:247277453..247279795,2	MCF-7	breast:
2	chr1:247241666..247243646-chr1:247278123..247279948,2	K562	blood:
3	chr1:247273239..247275061-chr1:247277041..247280302,3	K562	blood:

No data

Variant related genes	Relation type
C1orf229	TF binding region
FGFR3P6	TF binding region
ENSG00000135747	chromatin interactions
ENSG00000221953	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 30 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28489280	chr1:247279582-247279583	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs28606523	chr1:247279584-247279585	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs28612339	chr1:247279645-247279646	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs28705205	chr1:247279665-247279666	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs28507145	chr1:247279667-247279668	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs200139656	chr1:247279691-247279692	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs55815441	chr1:247279802-247279803	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs201706516	chr1:247279873-247279874	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs201274933	chr1:247279962-247279963	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs200698161	chr1:247280136-247280137	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs373975432	chr1:247280273-247280274	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs55851721	chr1:247280312-247280313	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs200448724	chr1:247280466-247280467	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs201450624	chr1:247280700-247280701	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs200371324	chr1:247281295-247281296	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs566569058	chr1:247281328-247281329	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs1212570	chr1:247281510-247281511	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs1212898	chr1:247281525-247281526	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs1212899	chr1:247281602-247281603	Weak transcription	TF binding 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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247276600-247284600	Weak transcription	Right Ventricle	heart
2	chr1:247276800-247283000	Weak transcription	Spleen	Spleen
3	chr1:247279000-247290800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:247279200-247282400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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