Variant report

Variant	rs12621277
Chromosome Location	chr2:181831187-181831188
allele	A/C
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	MAFK	chr2:181831045-181831514	GM12878	blood:	n/a	chr2:181831293-181831308
2	MAFK	chr2:181831124-181831486	H1-hESC	embryonic stem cell:	n/a	chr2:181831293-181831308
3	MAFK	chr2:181831117-181831496	IMR90	lung:	n/a	chr2:181831293-181831308
4	MAFK	chr2:181831116-181831489	HepG2	liver:	n/a	chr2:181831293-181831308
5	MAFF	chr2:181831103-181831518	K562	blood:	n/a	chr2:181831291-181831309
6	MAFF	chr2:181831099-181831502	HepG2	liver:	n/a	chr2:181831291-181831309
7	MAFK	chr2:181831115-181831494	HepG2	liver:	n/a	chr2:181831293-181831308
8	MAFK	chr2:181831123-181831489	Hela-S3	cervix:	n/a	chr2:181831293-181831308
9	MAFK	chr2:181831118-181831493	K562	blood:	n/a	chr2:181831293-181831308

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:181829069..181832020-chr2:181844085..181846532,2	MCF-7	breast:

Variant related genes	Relation type
UBE2E3	TF binding region
ENSG00000170035	Chromatin interaction
ENSG00000236153	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10171108	0.94[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10171998	0.94[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10187842	0.94[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10930948	0.81[AMR][1000 genomes]
rs10930950	0.94[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11692072	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12989967	0.82[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs13004683	0.82[AMR][1000 genomes]
rs13019038	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs13020845	0.82[JPT][hapmap]
rs13029368	0.83[CEU][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1829365	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4346343	1.00[CEU][hapmap];0.84[CHB][hapmap];0.85[JPT][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4366861	0.94[CEU][hapmap];0.84[CHB][hapmap];0.84[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4510177	1.00[CEU][hapmap];0.84[CHB][hapmap];0.82[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4595925	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4667005	0.94[CEU][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4667008	0.94[CEU][hapmap];0.85[JPT][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4990275	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6433878	0.94[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6433879	0.88[CEU][hapmap];0.84[CHB][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6433883	0.94[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6433892	0.84[JPT][hapmap]
rs6704750	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6706565	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6710650	1.00[JPT][hapmap]
rs6731268	0.94[CEU][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6735373	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6743720	0.89[AMR][1000 genomes]
rs6744130	0.94[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6745190	0.89[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7371639	0.94[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7559803	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7569991	1.00[JPT][hapmap]
rs9808318	0.94[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875476	chr2:181767757-181854997	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a

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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