Variant report

Variant	rs12074782
Chromosome Location	chr1:223575111-223575112
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:223574260..223577674-chr1:223613937..223618124,4	MCF-7	breast:
2	chr1:223536303..223538270-chr1:223574488..223576964,2	K562	blood:

Variant related genes	Relation type
ENSG00000143502	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10907375	0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11261265	0.93[EUR][1000 genomes]
rs11261268	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11261269	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11579995	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12064476	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12074609	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12078619	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12082133	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12087387	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12094897	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12405882	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1400964	0.90[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.87[ASN][1000 genomes]
rs1713213	0.89[CHB][hapmap]
rs17162005	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17163836	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1914612	0.81[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2298063	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2353204	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2501982	0.96[EUR][1000 genomes]
rs2678369	0.90[CHB][hapmap];0.87[GIH][hapmap]
rs2678370	0.81[CHB][hapmap];0.81[GIH][hapmap]
rs28788929	0.87[ASN][1000 genomes]
rs28897212	0.87[ASN][1000 genomes]
rs35345617	0.90[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs35727959	0.90[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs35736338	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs35996176	0.90[CHB][hapmap];0.89[CHD][hapmap];0.81[ASN][1000 genomes]
rs59584296	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61838233	0.81[ASN][1000 genomes]
rs61838244	0.81[ASN][1000 genomes]
rs6661314	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6677044	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6679661	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6682552	1.00[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6689850	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6700523	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6701453	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs825148	0.90[CHB][hapmap];0.81[GIH][hapmap];1.00[TSI][hapmap]
rs866637	0.90[CHB][hapmap];0.87[GIH][hapmap];1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832670	chr1:223561771-223683381	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv4687	chr1:223565080-223610362	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223574400-223575200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr1:223574400-223575200	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr1:223574600-223575600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:223574800-223575200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr1:223575000-223575200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr1:223575000-223575200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr1:223575000-223576600	Weak transcription	Primary T cells from cord blood	blood
8	chr1:223575000-223576800	Enhancers	Osteobl	bone

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