Variant report

Variant	rs7302874
Chromosome Location	chr12:120420670-120420671
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120419275..120421989-chr12:120429002..120431271,2	K562	blood:
2	chr12:120414941..120417051-chr12:120419035..120420939,2	MCF-7	breast:
3	chr12:120420153..120423656-chr12:120424541..120427660,4	MCF-7	breast:
4	chr12:120419269..120420900-chr12:120635417..120637963,2	MCF-7	breast:
5	chr12:120410929..120415600-chr12:120416913..120420697,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000089157	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10128766	0.83[CHB][hapmap]
rs10400498	0.83[CHB][hapmap]
rs10744747	0.97[ASN][1000 genomes]
rs10849732	1.00[CEU][hapmap];0.83[CHB][hapmap];0.93[MEX][hapmap];0.83[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10849735	0.84[CHB][hapmap];0.83[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10849736	0.83[CHB][hapmap]
rs11064986	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11064998	0.99[ASN][1000 genomes]
rs11065003	0.83[CHB][hapmap]
rs11065004	0.95[ASN][1000 genomes]
rs11065014	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.82[JPT][hapmap];0.81[MEX][hapmap];0.82[ASN][1000 genomes]
rs12310591	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12311327	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12320072	0.83[ASN][1000 genomes]
rs12422923	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2240311	0.84[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.81[MEX][hapmap];0.80[ASN][1000 genomes]
rs2393570	0.95[ASN][1000 genomes]
rs2893812	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs3742044	0.96[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759399	0.81[ASN][1000 genomes]
rs3852586	0.87[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs3852588	0.80[ASN][1000 genomes]
rs3886910	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3999575	0.81[ASN][1000 genomes]
rs4105713	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4351876	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767870	0.87[CHB][hapmap];0.98[ASN][1000 genomes]
rs4767873	0.89[ASN][1000 genomes]
rs4767875	0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6490278	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6490280	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6490281	1.00[CEU][hapmap];0.87[CHB][hapmap];0.88[MEX][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6490284	0.92[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs7295717	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7298183	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7304325	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap]
rs7306739	1.00[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.82[JPT][hapmap];0.81[MEX][hapmap];0.87[ASN][1000 genomes]
rs7312811	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7312971	0.84[CHB][hapmap];0.83[YRI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7314959	0.92[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.86[JPT][hapmap];0.83[MEX][hapmap];0.89[ASN][1000 genomes]
rs7956436	0.95[CHB][hapmap];0.81[JPT][hapmap];0.95[ASN][1000 genomes]
rs7960725	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap];0.83[MEX][hapmap];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7961738	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7962812	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7968557	0.83[CHB][hapmap]
rs7971249	0.92[CEU][hapmap];0.83[CHB][hapmap];0.86[JPT][hapmap]
rs7977281	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7978927	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv455727	chr12:120259679-120420670	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv560397	chr12:120259679-120420670	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv510575	chr12:120303163-120437490	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv3525916	chr12:120345352-120665045	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
5	esv3525917	chr12:120345352-120665045	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active 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	99 gene(s)	inside rSNPs	diseases
6	nsv899554	chr12:120389613-120513625	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	esv1805506	chr12:120419963-120427915	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
8	esv1819565	chr12:120419963-120427915	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
9	esv1830757	chr12:120419963-120427915	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
10	esv1838328	chr12:120419963-120427915	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
11	esv1835423	chr12:120420670-120427915	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
12	esv1841015	chr12:120420670-120427915	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 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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