Variant report

Variant	rs6732115
Chromosome Location	chr2:97335510-97335511
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	POLR2A	chr2:97335459-97335655	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr2:97335429-97335562	MCF-7	breast:	n/a	n/a
3	ZNF263	chr2:97335277-97335775	HEK293-T-REx	kidney:	n/a	n/a
4	CTCF	chr2:97335380-97335530	HepG2	liver:	n/a	n/a
5	RFX5	chr2:97335488-97335530	GM12878	blood:	n/a	n/a
6	POLR2A	chr2:97335443-97335558	MCF-7	breast:	n/a	n/a
7	RFX5	chr2:97335387-97335657	HepG2	liver:	n/a	chr2:97335588-97335603 chr2:97335528-97335543
8	NFYB	chr2:97335504-97335676	GM12878	blood:	n/a	n/a
9	ZNF143	chr2:97335452-97335577	H1-hESC	embryonic stem cell:	n/a	n/a
10	NFYB	chr2:97335378-97335679	K562	blood:	n/a	n/a

Variant related genes	Relation type
FER1L5	TF binding region

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10175415	0.82[AFR][1000 genomes]
rs10183164	1.00[GIH][hapmap];0.90[JPT][hapmap];0.82[MKK][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs10185002	1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.85[TSI][hapmap];0.89[EUR][1000 genomes]
rs10199227	1.00[GIH][hapmap];0.90[JPT][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs10203766	0.89[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs10209315	1.00[AMR][1000 genomes]
rs13384114	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13389475	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13393729	0.94[EUR][1000 genomes]
rs13395011	1.00[GIH][hapmap];0.90[JPT][hapmap];0.82[MKK][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs13398740	0.89[EUR][1000 genomes]
rs13405842	0.90[JPT][hapmap];0.84[YRI][hapmap];0.86[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs2292942	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35715176	0.89[EUR][1000 genomes]
rs35809433	0.83[TSI][hapmap]
rs3731939	0.85[TSI][hapmap]
rs55687728	0.82[EUR][1000 genomes]
rs55716397	0.83[AFR][1000 genomes]
rs59398186	0.84[EUR][1000 genomes]
rs59426746	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61063398	0.94[EUR][1000 genomes]
rs6718340	1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap]
rs6733589	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6753713	0.94[EUR][1000 genomes]
rs72939379	0.82[EUR][1000 genomes]
rs72941209	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72941214	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72941219	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72941235	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs747757	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7604736	0.80[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs7607990	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	esv3460902	chr2:97138421-97459342	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	esv3460903	chr2:97138421-97459342	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	nsv999871	chr2:97157196-97407711	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv535829	chr2:97157196-97407711	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv469775	chr2:97240926-97412491	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
12	nsv482586	chr2:97240926-97412491	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
13	nsv834306	chr2:97241115-97412938	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
14	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
15	nsv834307	chr2:97321447-97479266	Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
16	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97332200-97345600	Weak transcription	Pancreas	Pancrea
2	chr2:97334200-97335800	Bivalent Enhancer	HepG2	liver
3	chr2:97334400-97335600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:97334400-97335600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:97334800-97335600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:97334800-97336400	Enhancers	Placenta	Placenta
7	chr2:97335000-97335600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:97335000-97335800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:97335400-97335600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:97335400-97335600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:97335400-97336000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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