Variant report

Variant	rs12078619
Chromosome Location	chr1:223574669-223574670
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: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10907375	0.87[ASN][1000 genomes]
rs11261265	0.92[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs11261268	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11261269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11579995	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12064476	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12074609	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12074782	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12082133	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12087387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12094897	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12405882	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1400964	0.87[ASN][1000 genomes]
rs17162005	0.87[ASN][1000 genomes]
rs17163836	0.87[ASN][1000 genomes]
rs1914612	0.85[ASN][1000 genomes]
rs2298063	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2353204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2501982	0.96[EUR][1000 genomes]
rs28788929	0.87[ASN][1000 genomes]
rs28897212	0.87[ASN][1000 genomes]
rs34482638	0.88[AMR][1000 genomes]
rs35059272	0.88[AMR][1000 genomes]
rs35345617	0.87[ASN][1000 genomes]
rs35727959	0.87[ASN][1000 genomes]
rs35736338	0.87[ASN][1000 genomes]
rs35996176	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs59584296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61838211	0.88[AMR][1000 genomes]
rs61838233	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs61838244	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6661314	0.87[ASN][1000 genomes]
rs6677044	0.96[AFR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6679661	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6682552	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6689850	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6700523	0.87[ASN][1000 genomes]
rs6701453	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]

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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223574400-223574800	Active TSS	H9 Cell Line	embryonic stem cell
2	chr1:223574400-223575000	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr1:223574400-223575000	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr1:223574400-223575200	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr1:223574400-223575200	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr1:223574600-223575600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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