Variant report

Variant	rs2790057
Chromosome Location	chr1:165786311-165786312
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:42)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:42 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TRIM28	chr1:165786086-165786742	K562	blood:	n/a	n/a
2	GATA1	chr1:165786084-165786663	PBDEFetal	blood:	n/a	n/a
3	EP300	chr1:165786285-165786644	K562	blood:	n/a	n/a
4	GATA2	chr1:165786159-165786758	K562	blood:	n/a	n/a
5	TAL1	chr1:165786018-165786730	K562	blood:	n/a	n/a
6	MYC	chr1:165785992-165786630	K562	blood:	n/a	n/a
7	CEBPD	chr1:165786088-165786786	K562	blood:	n/a	n/a
8	NR2F2	chr1:165785936-165786791	K562	blood:	n/a	n/a
9	ZNF384	chr1:165786231-165786765	K562	blood:	n/a	n/a
10	MAX	chr1:165785766-165786675	K562	blood:	n/a	n/a
11	CCNT2	chr1:165786200-165786718	K562	blood:	n/a	n/a
12	MAX	chr1:165786289-165786508	K562	blood:	n/a	n/a
13	TBL1XR1	chr1:165786174-165786720	K562	blood:	n/a	n/a
14	POLR2A	chr1:165786272-165786623	K562	blood:	n/a	n/a
15	ARID3A	chr1:165786096-165786650	K562	blood:	n/a	n/a
16	CBX3	chr1:165786027-165786708	K562	blood:	n/a	n/a
17	GATA1	chr1:165785823-165786741	K562	blood:	n/a	n/a
18	RCOR1	chr1:165786090-165786756	K562	blood:	n/a	n/a
19	HDAC2	chr1:165786278-165786698	K562	blood:	n/a	n/a
20	UBTF	chr1:165786170-165786589	K562	blood:	n/a	n/a
21	STAT5A	chr1:165786206-165786632	K562	blood:	n/a	n/a
22	RCOR1	chr1:165786216-165786649	K562	blood:	n/a	n/a
23	MAFK	chr1:165786131-165786538	K562	blood:	n/a	n/a
24	GATA1	chr1:165785935-165786761	PBDE	blood:	n/a	n/a
25	TEAD4	chr1:165785958-165786715	K562	blood:	n/a	n/a
26	ZMIZ1	chr1:165786138-165786694	K562	blood:	n/a	n/a
27	MAFF	chr1:165786262-165786535	K562	blood:	n/a	n/a
28	JUND	chr1:165786097-165786699	K562	blood:	n/a	n/a
29	EP300	chr1:165785981-165786723	K562	blood:	n/a	n/a
30	MAZ	chr1:165786182-165786681	K562	blood:	n/a	n/a
31	PML	chr1:165786246-165786639	K562	blood:	n/a	n/a
32	PML	chr1:165786296-165786687	K562	blood:	n/a	n/a
33	UBTF	chr1:165786175-165786687	K562	blood:	n/a	n/a
34	GATA2	chr1:165786249-165786718	K562	blood:	n/a	n/a
35	CEBPD	chr1:165786204-165786823	K562	blood:	n/a	n/a
36	ZNF143	chr1:165786206-165786631	K562	blood:	n/a	n/a
37	HMGN3	chr1:165786236-165786709	K562	blood:	n/a	n/a
38	GATA2	chr1:165786039-165786713	K562	blood:	n/a	n/a
39	TEAD4	chr1:165785949-165786713	K562	blood:	n/a	n/a
40	BHLHE40	chr1:165785073-165786670	K562	blood:	n/a	n/a
41	CHD2	chr1:165786261-165786401	K562	blood:	n/a	n/a
42	CUX1	chr1:165786063-165786576	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:165780927..165783548-chr1:165784914..165787282,2	K562	blood:
2	chr1:165738281..165740452-chr1:165785829..165787705,2	K562	blood:
3	chr1:165783564..165786878-chr1:165795722..165800195,9	K562	blood:
4	chr1:165742597..165744682-chr1:165785912..165787963,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000230659	TF binding region
ENSG00000143179	Chromatin interaction
ENSG00000143183	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10800159	0.92[ASN][1000 genomes]
rs10918276	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs12131697	0.85[ASN][1000 genomes]
rs12723198	0.80[CHB][hapmap];0.81[JPT][hapmap]
rs14223	0.80[CHB][hapmap];0.81[JPT][hapmap]
rs1913846	0.80[CHB][hapmap];0.81[JPT][hapmap]
rs1999992	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs2153263	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2153264	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2790054	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2790056	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2814470	0.81[JPT][hapmap]
rs4474223	0.86[ASN][1000 genomes]
rs6426937	0.80[CHB][hapmap];0.81[JPT][hapmap]
rs6426940	0.80[CHB][hapmap];0.81[JPT][hapmap]
rs6656194	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs9427123	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2756102	chr1:165652342-165877342	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1011720	chr1:165669589-165802516	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv517792	chr1:165785503-165811729	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
4	esv2830094	chr1:165785503-165840411	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165784600-165786600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:165785000-165787600	Enhancers	Fetal Heart	heart
3	chr1:165785400-165788000	Weak transcription	Gastric	stomach
4	chr1:165785600-165790600	Weak transcription	Right Atrium	heart
5	chr1:165785800-165786400	Enhancers	Right Ventricle	heart
6	chr1:165786200-165786600	Flanking Active TSS	K562	blood

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