Variant report

Variant	rs3749375
Chromosome Location	chr3:22423131-22423132
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:22422972-22424003	GM12892	blood:	n/a	n/a
2	POLR2A	chr3:22423127-22423331	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr3:22423082-22423390	H1-hESC	embryonic stem cell:	n/a	n/a
4	HEY1	chr3:22423108-22423473	K562	blood:	n/a	n/a
5	POU2F2	chr3:22423122-22423913	GM12878	blood:	n/a	n/a
6	TAF1	chr3:22423026-22423436	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr3:22423031-22423275	GM12878	blood:	n/a	n/a
8	HEY1	chr3:22423128-22423390	HepG2	liver:	n/a	n/a
9	POLR2A	chr3:22422962-22423417	MCF-7	breast:	n/a	n/a
10	POLR2A	chr3:22422960-22423487	GM12891	blood:	n/a	n/a
11	POLR2A	chr3:22423131-22423466	PFSK-1	brain:	n/a	n/a
12	HEY1	chr3:22423055-22423431	K562	blood:	n/a	n/a
13	POLR2A	chr3:22422957-22423437	MCF-7	breast:	n/a	n/a
14	POLR2A	chr3:22422987-22423385	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr3:22422947-22424489	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr3:22422998-22423773	GM12891	blood:	n/a	n/a
17	POLR2A	chr3:22423087-22423372	HepG2	liver:	n/a	n/a
18	POLR2A	chr3:22423054-22423275	A549	lung:	n/a	n/a
19	POLR2A	chr3:22423058-22423409	HepG2	liver:	n/a	n/a
20	POLR2A	chr3:22423036-22423487	ProgFib	skin:	n/a	n/a
21	POLR2A	chr3:22422961-22423444	MCF-7	breast:	n/a	n/a
22	POLR2A	chr3:22422997-22423346	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr3:22423110-22423819	GM12878	blood:	n/a	n/a
24	POLR2A	chr3:22423090-22423451	SK-N-MC	brain:	n/a	n/a
25	POLR2A	chr3:22422988-22423349	Gliobla	brain:	n/a	n/a
26	POLR2A	chr3:22423071-22423298	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr3:22422993-22423397	K562	blood:	n/a	n/a
28	POLR2A	chr3:22423024-22423503	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr3:22423091-22424012	GM12892	blood:	n/a	n/a
30	ZBTB33	chr3:22423125-22423958	K562	blood:	n/a	n/a
31	TCF12	chr3:22423105-22423313	GM12878	blood:	n/a	n/a
32	POLR2A	chr3:22423101-22423390	GM12891	blood:	n/a	n/a
33	POLR2A	chr3:22423122-22423471	GM12892	blood:	n/a	n/a

No data

Variant related genes	Relation type
HMGB1P5	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12492984	0.92[MEX][hapmap]
rs1494230	0.92[MEX][hapmap]
rs1548136	0.92[MEX][hapmap]
rs2198020	0.91[MEX][hapmap]
rs3749374	0.88[LWK][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes]
rs4431131	0.92[MEX][hapmap]
rs6768103	0.80[AMR][1000 genomes]
rs982354	0.92[MEX][hapmap];0.80[AMR][1000 genomes]
rs986483	0.92[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432404	chr3:22000296-22433396	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1003211	chr3:22244883-22584229	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv536520	chr3:22244883-22584229	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv428082	chr3:22397625-22539817	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv834634	chr3:22420053-22574021	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv965148	chr3:22421613-22424357	Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
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