Variant report

Variant	rs2705764
Chromosome Location	chr2:183977503-183977504
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAL1	chr2:183977339-183977766	K562	blood:	n/a	n/a
2	CEBPD	chr2:183977347-183977773	K562	blood:	n/a	n/a
3	RCOR1	chr2:183977403-183977671	K562	blood:	n/a	n/a
4	TBP	chr2:183977492-183977526	K562	blood:	n/a	n/a
5	SPI1	chr2:183977390-183977646	K562	blood:	n/a	n/a
6	ATF1	chr2:183977365-183977711	K562	blood:	n/a	n/a
7	GATA1	chr2:183977180-183978022	PBDE	blood:	n/a	n/a
8	TEAD4	chr2:183977285-183977803	K562	blood:	n/a	n/a
9	MAFF	chr2:183977371-183977673	K562	blood:	n/a	n/a
10	SPI1	chr2:183977377-183977634	K562	blood:	n/a	n/a
11	JUND	chr2:183977400-183977741	K562	blood:	n/a	n/a
12	CUX1	chr2:183977404-183977889	K562	blood:	n/a	n/a
13	MAFK	chr2:183977436-183977663	K562	blood:	n/a	n/a
14	CCNT2	chr2:183977433-183977679	K562	blood:	n/a	n/a
15	ARID3A	chr2:183977385-183977757	K562	blood:	n/a	n/a
16	STAT5A	chr2:183977379-183977659	K562	blood:	n/a	n/a
17	JUN	chr2:183977282-183977802	K562	blood:	n/a	n/a
18	CBX3	chr2:183977286-183977770	K562	blood:	n/a	n/a
19	ZMIZ1	chr2:183977389-183977652	K562	blood:	n/a	n/a
20	EP300	chr2:183977379-183978770	K562	blood:	n/a	chr2:183978740-183978754
21	IRF1	chr2:183977286-183977719	K562	blood:	n/a	n/a
22	KAP1	chr2:183977385-183977956	K562	blood:	n/a	n/a
23	TEAD4	chr2:183977301-183977766	K562	blood:	n/a	n/a
24	TBL1XR1	chr2:183977416-183977653	K562	blood:	n/a	n/a
25	GATA2	chr2:183977320-183977716	K562	blood:	n/a	n/a
26	ZNF384	chr2:183977168-183977593	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:183967945..183970518-chr2:183975860..183978004,2	K562	blood:
2	chr2:183975767..183977523-chr2:183982555..183984134,2	K562	blood:
3	chr2:183976023..183978343-chr2:183982634..183984997,2	K562	blood:

No data

Variant related genes	Relation type
NUP35	TF binding region
ENSG00000224643	TF binding region

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11684034	0.84[AMR][1000 genomes]
rs2138483	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2176227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2248705	0.84[AMR][1000 genomes]
rs2254867	0.80[AMR][1000 genomes]
rs2459336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2675059	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2675064	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2675066	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2675070	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2675080	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2675081	0.84[AMR][1000 genomes]
rs2675085	0.81[AMR][1000 genomes]
rs2675100	0.84[AMR][1000 genomes]
rs2675103	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2705711	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2705717	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2705723	0.81[AMR][1000 genomes]
rs2705725	0.81[AMR][1000 genomes]
rs2705726	0.81[AMR][1000 genomes]
rs2705728	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2705731	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2705738	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2705761	0.84[AMR][1000 genomes]
rs2705762	0.81[AMR][1000 genomes]
rs2887233	0.84[AMR][1000 genomes]
rs4441423	0.81[AMR][1000 genomes]
rs4666616	0.84[AMR][1000 genomes]
rs4666618	0.84[AMR][1000 genomes]
rs6434012	0.84[AMR][1000 genomes]
rs6434018	0.84[AMR][1000 genomes]
rs6751275	0.84[AMR][1000 genomes]
rs72890368	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72896587	0.84[AMR][1000 genomes]
rs72896589	0.84[AMR][1000 genomes]
rs72896592	0.84[AMR][1000 genomes]
rs72896594	0.84[AMR][1000 genomes]
rs72898506	0.84[AMR][1000 genomes]
rs72898520	0.84[AMR][1000 genomes]
rs72898559	0.84[AMR][1000 genomes]
rs7355427	0.84[AMR][1000 genomes]
rs7420841	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1005281	chr2:183803173-184093877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv875485	chr2:183827018-184195265	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1010799	chr2:183855680-184244721	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv536072	chr2:183855680-184244721	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1003519	chr2:183885544-184015868	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv2763287	chr2:183939173-184037893	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	esv3356302	chr2:183962495-183989877	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183954600-183988400	Weak transcription	Aorta	Aorta
2	chr2:183977200-183978200	Flanking Active TSS	K562	blood

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