Variant report

Variant	rs956747
Chromosome Location	chr2:31374733-31374734
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	RAD21	chr2:31374355-31374844	A549	lung:	n/a	chr2:31374569-31374588 chr2:31374574-31374593
2	RAD21	chr2:31374403-31374767	H1-hESC	embryonic stem cell:	n/a	chr2:31374569-31374588 chr2:31374574-31374593
3	RAD21	chr2:31374317-31374863	MCF-7	breast:	n/a	chr2:31374569-31374588 chr2:31374574-31374593
4	CTCF	chr2:31374381-31374742	H1-hESC	embryonic stem cell:	n/a	chr2:31374566-31374587 chr2:31374573-31374591 chr2:31374575-31374596 chr2:31374571-31374589
5	RAD21	chr2:31374447-31374765	H1-hESC	embryonic stem cell:	n/a	chr2:31374569-31374588 chr2:31374574-31374593
6	RAD21	chr2:31374253-31374924	SK-N-SH	brain:	n/a	chr2:31374569-31374588 chr2:31374574-31374593
7	CTCF	chr2:31374442-31374845	MCF-7	breast:	n/a	chr2:31374566-31374587 chr2:31374573-31374591 chr2:31374575-31374596 chr2:31374571-31374589
8	CTCF	chr2:31374315-31374860	MCF-7	breast:	n/a	chr2:31374566-31374587 chr2:31374573-31374591 chr2:31374575-31374596 chr2:31374571-31374589
9	RAD21	chr2:31374437-31374760	Hela-S3	cervix:	n/a	chr2:31374569-31374588 chr2:31374574-31374593
10	RAD21	chr2:31374480-31374793	HepG2	liver:	n/a	chr2:31374569-31374588 chr2:31374574-31374593
11	RAD21	chr2:31374357-31374826	A549	lung:	n/a	chr2:31374569-31374588 chr2:31374574-31374593
12	RAD21	chr2:31374302-31374822	HCT-116	colon:	n/a	chr2:31374569-31374588 chr2:31374574-31374593
13	RAD21	chr2:31374497-31374745	HepG2	liver:	n/a	chr2:31374569-31374588 chr2:31374574-31374593
14	RAD21	chr2:31374399-31374818	MCF-7	breast:	n/a	chr2:31374569-31374588 chr2:31374574-31374593
15	CTCF	chr2:31374600-31374750	RPTEC	kidney:	n/a	n/a
16	RAD21	chr2:31374335-31374753	H1-hESC	embryonic stem cell:	n/a	chr2:31374569-31374588 chr2:31374574-31374593

No.	Distal block	Cell Line	Cell type
1	chr2:31374076..31374959-chr2:31556105..31557134,5	MCF-7	breast:
2	chr2:31368930..31370626-chr2:31374002..31376231,2	K562	blood:
3	chr2:31374189..31375034-chr2:31392805..31393608,2	MCF-7	breast:

Variant related genes	Relation type
GALNT14	TF binding region
ENSG00000158089	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10190164	0.90[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10201005	0.83[CHB][hapmap];0.93[JPT][hapmap]
rs12105231	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12989636	0.80[CEU][hapmap];0.82[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13408448	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1562023	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17010764	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2008535	0.94[JPT][hapmap]
rs57938947	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60245472	0.81[AMR][1000 genomes]
rs6543605	0.91[CEU][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6543606	0.91[CEU][hapmap];0.84[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6543607	0.86[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.80[AFR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6543609	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6706156	0.81[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs6708641	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6743542	0.81[CEU][hapmap];0.94[CHD][hapmap];0.94[JPT][hapmap];0.85[MEX][hapmap]
rs6747497	0.81[CEU][hapmap];0.85[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap];0.85[MEX][hapmap];0.82[AMR][1000 genomes]
rs7560152	0.95[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7564367	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7596724	0.89[CHB][hapmap];0.86[CHD][hapmap];0.83[GIH][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]

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	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv873771	chr2:31363732-31416582	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv873772	chr2:31363732-31417863	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv873773	chr2:31363732-31426449	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv873774	chr2:31363732-31432367	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv873775	chr2:31363732-31439443	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh	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
chromosomal regions: chr1:12345-34567

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