Variant report

Variant	rs539530887
Chromosome Location	chr2:114334624-114334625
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr2:114333968-114335549	K562	blood:	n/a	chr2:114334232-114334241
2	CBX3	chr2:114334040-114334625	K562	blood:	n/a	n/a
3	TRIM28	chr2:114333902-114334677	K562	blood:	n/a	n/a
4	STAT5A	chr2:114333937-114334703	K562	blood:	n/a	n/a
5	POLR2A	chr2:114334104-114334682	Hela-S3	cervix:	n/a	n/a
6	SIX5	chr2:114333974-114334715	K562	blood:	n/a	n/a
7	ZBTB33	chr2:114333964-114335162	K562	blood:	n/a	n/a
8	POU2F2	chr2:114333990-114334650	GM12878	blood:	n/a	chr2:114334281-114334302 chr2:114334286-114334308 chr2:114334280-114334302 chr2:114333992-114334014
9	POLR2A	chr2:114333839-114335072	H1-hESC	embryonic stem cell:	n/a	n/a
10	TAF1	chr2:114333990-114334647	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr2:114333786-114335071	H1-hESC	embryonic stem cell:	n/a	n/a
12	FOSL2	chr2:114334217-114334636	HepG2	liver:	n/a	chr2:114334231-114334240 chr2:114334230-114334241 chr2:114334231-114334238
13	FOSL2	chr2:114334040-114334650	HepG2	liver:	n/a	chr2:114334231-114334240 chr2:114334230-114334241 chr2:114334231-114334238
14	TAF1	chr2:114333966-114335151	H1-hESC	embryonic stem cell:	n/a	n/a
15	ZBTB33	chr2:114334011-114335132	K562	blood:	n/a	n/a
16	SP1	chr2:114334116-114334670	K562	blood:	n/a	n/a
17	REST	chr2:114334107-114334625	H1-hESC	embryonic stem cell:	n/a	n/a
18	NR2F2	chr2:114333996-114334665	K562	blood:	n/a	n/a
19	HEY1	chr2:114333928-114335338	K562	blood:	n/a	n/a
20	POLR2A	chr2:114331484-114335467	H1-hESC	embryonic stem cell:	n/a	n/a
21	HEY1	chr2:114331291-114335500	K562	blood:	n/a	n/a
22	STAT5A	chr2:114334179-114334653	K562	blood:	n/a	n/a
23	TEAD4	chr2:114334021-114334630	H1-hESC	embryonic stem cell:	n/a	n/a
24	TEAD4	chr2:114334261-114334708	H1-hESC	embryonic stem cell:	n/a	chr2:114334622-114334631
25	RXRA	chr2:114334116-114334655	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
FAM138B	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2759085	chr2:114074949-114428678	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
2	nsv834334	chr2:114175740-114338827	Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv428062	chr2:114251945-114428678	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
4	esv2757827	chr2:114253780-114428678	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
5	nsv582714	chr2:114280860-114411190	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	esv1807730	chr2:114312991-114398343	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
7	nsv821507	chr2:114322271-114376565	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
8	esv15077	chr2:114322827-114361868	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers 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 miRNA	7 gene(s)	inside rSNPs	diseases
9	esv1798912	chr2:114324432-114358204	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
10	esv1806443	chr2:114324432-114359111	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
11	esv1794265	chr2:114328505-114359007	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
12	esv1805084	chr2:114328505-114366024	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
13	esv1809766	chr2:114328505-114378566	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
14	esv1797539	chr2:114328505-114380229	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
15	esv3347005	chr2:114328582-114341380	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
16	esv3349788	chr2:114328582-114360780	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
17	nsv961638	chr2:114328595-114336681	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv10133	chr2:114329841-114364593	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
19	nsv961639	chr2:114333474-114336681	Enhancers Weak transcription	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
20	esv3415262	chr2:114333882-114342080	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114311400-114340400	Weak transcription	Fetal Stomach	stomach
2	chr2:114314600-114339000	Weak transcription	NHLF	lung
3	chr2:114329600-114341000	Weak transcription	NHDF-Ad	bronchial
4	chr2:114333200-114340000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr2:114333200-114340200	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr2:114334000-114335000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:114334200-114334800	Enhancers	Fetal Muscle Leg	muscle
8	chr2:114334400-114336600	Weak transcription	K562	blood

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