Variant report

Variant	rs7135031
Chromosome Location	chr12:60482328-60482329
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:60473802..60475803-chr12:60480234..60482937,2	MCF-7	breast:
2	chr12:60481263..60483527-chr12:60485827..60488653,2	K562	blood:

Variant related genes	Relation type
ENSG00000257294	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10506408	0.81[EUR][1000 genomes]
rs10784027	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10784028	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10784029	0.91[ASN][1000 genomes]
rs10784033	0.82[ASN][1000 genomes]
rs10877392	0.86[EUR][1000 genomes]
rs10877398	0.85[ASN][1000 genomes]
rs10877399	0.81[ASN][1000 genomes]
rs10877401	0.82[ASN][1000 genomes]
rs10877402	0.82[ASN][1000 genomes]
rs10877403	0.82[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs11173319	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11173327	0.84[EUR][1000 genomes]
rs11173328	0.82[EUR][1000 genomes]
rs11173329	0.82[EUR][1000 genomes]
rs11173336	0.82[EUR][1000 genomes]
rs11173338	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11173339	0.81[EUR][1000 genomes]
rs11173341	0.81[EUR][1000 genomes]
rs11173343	0.81[EUR][1000 genomes]
rs11173357	0.82[ASN][1000 genomes]
rs11173365	0.82[ASN][1000 genomes]
rs12230817	0.82[EUR][1000 genomes]
rs1389255	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1493311	0.82[ASN][1000 genomes]
rs1493325	0.81[EUR][1000 genomes]
rs17595010	0.81[EUR][1000 genomes]
rs17595325	0.93[CEU][hapmap];0.81[EUR][1000 genomes]
rs17595367	0.80[EUR][1000 genomes]
rs17665306	0.93[CEU][hapmap]
rs2014074	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2172500	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3847662	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3847663	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3907482	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4093759	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4406858	0.82[ASN][1000 genomes]
rs4625509	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4758743	0.84[EUR][1000 genomes]
rs4758858	0.82[ASN][1000 genomes]
rs61127975	0.87[EUR][1000 genomes]
rs61922949	0.88[EUR][1000 genomes]
rs61922950	0.88[EUR][1000 genomes]
rs61923065	0.81[EUR][1000 genomes]
rs61923066	0.84[EUR][1000 genomes]
rs61925366	0.84[EUR][1000 genomes]
rs66587505	0.82[EUR][1000 genomes]
rs7134663	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7138854	0.89[ASN][1000 genomes]
rs72648145	0.81[EUR][1000 genomes]
rs7298315	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7300532	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7302607	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7310323	0.86[EUR][1000 genomes]
rs7314355	0.86[EUR][1000 genomes]
rs735926	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7967860	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7977065	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7977642	0.87[EUR][1000 genomes]
rs7979069	0.86[EUR][1000 genomes]
rs8181648	0.93[CEU][hapmap];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899136	chr12:60373244-60483607	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv559103	chr12:60383069-60483607	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1048137	chr12:60432594-60515455	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv428591	chr12:60446360-60631044	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv427913	chr12:60462443-60569344	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60478000-60489000	Weak transcription	Pancreas	Pancrea
2	chr12:60478600-60492800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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