Variant report

Variant	rs1320922
Chromosome Location	chr12:30461704-30461705
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXM1	chr12:30460799-30461724	ECC-1	luminal epithelium:	n/a	n/a
2	CEBPB	chr12:30461079-30461749	ECC-1	luminal epithelium:	n/a	n/a
3	FOXM1	chr12:30460770-30461888	ECC-1	luminal epithelium:	n/a	n/a
4	EP300	chr12:30460972-30461797	ECC-1	luminal epithelium:	n/a	n/a
5	MAX	chr12:30461011-30461934	ECC-1	luminal epithelium:	n/a	n/a
6	TCF12	chr12:30460853-30462003	ECC-1	luminal epithelium:	n/a	n/a
7	ESR1	chr12:30460979-30461735	ECC-1	luminal epithelium:	n/a	n/a
8	EP300	chr12:30460764-30461936	ECC-1	luminal epithelium:	n/a	n/a
9	TCF12	chr12:30460935-30461761	ECC-1	luminal epithelium:	n/a	n/a
10	RAD21	chr12:30461211-30461868	ECC-1	luminal epithelium:	n/a	n/a
11	TEAD4	chr12:30460927-30461752	ECC-1	luminal epithelium:	n/a	n/a
12	ESR1	chr12:30461076-30461718	ECC-1	luminal epithelium:	n/a	n/a
13	TEAD4	chr12:30460968-30461801	ECC-1	luminal epithelium:	n/a	n/a
14	NFIC	chr12:30460884-30461881	ECC-1	luminal epithelium:	n/a	n/a
15	NFIC	chr12:30460879-30461740	ECC-1	luminal epithelium:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:30130967..30132688-chr12:30459870..30462012,2	MCF-7	breast:
2	chr12:30457702..30459650-chr12:30461692..30463708,2	K562	blood:

No data

Variant related genes	Relation type
RNA5SP356	TF binding region
ENSG00000251781	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10082751	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10082827	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10082936	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10083054	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10506066	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10771699	0.89[ASN][1000 genomes]
rs10771700	0.89[ASN][1000 genomes]
rs10771701	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10771702	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10843721	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10843722	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11050819	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11050821	0.94[ASN][1000 genomes]
rs11050822	0.94[ASN][1000 genomes]
rs11050824	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11050825	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11834249	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11835626	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12313162	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12322792	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12322860	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12578380	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12580598	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12580879	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1320923	1.00[CEU][hapmap];0.80[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1320925	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1429622	0.94[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1429636	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1506373	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1506374	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1506375	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1612581	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1612791	0.99[EUR][1000 genomes]
rs1612949	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1613702	0.84[CHD][hapmap]
rs1652138	0.81[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1652184	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1652186	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1652187	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1652188	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1652191	0.99[EUR][1000 genomes]
rs1652193	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16906208	0.91[ASN][1000 genomes]
rs1731490	1.00[CEU][hapmap];0.80[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1731491	1.00[CEU][hapmap];0.83[CHD][hapmap];0.97[GIH][hapmap];0.80[JPT][hapmap];0.96[TSI][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1731492	1.00[CEU][hapmap];0.80[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1731493	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1731500	0.96[EUR][1000 genomes]
rs17464127	0.94[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17525182	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2115689	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2115690	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2163114	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2163115	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2564526	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2564527	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2700023	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2700026	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2703363	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2703370	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs354138	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4032076	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4032077	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4032078	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4032081	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4032082	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4032092	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4304873	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4304874	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4426203	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4444166	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4562911	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4564417	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57783386	0.87[EUR][1000 genomes]
rs58747169	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73287069	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7358618	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7358619	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7358666	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7485854	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7977589	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs906114	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs906115	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9804786	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9804787	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9805027	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832360	chr12:30393329-30555693	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv517916	chr12:30454845-30485611	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv8937	chr12:30457162-30462498	Enhancers ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	2 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	chr12:30460600-30461800	Enhancers	NHEK	skin
2	chr12:30461600-30461800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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