Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:75537889..75539859-chr1:75541751..75543323,2	K562	blood:

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12129029	1.00[ASN][1000 genomes]
rs12129158	1.00[ASN][1000 genomes]
rs12129193	1.00[ASN][1000 genomes]
rs12133614	1.00[ASN][1000 genomes]
rs12138223	1.00[ASN][1000 genomes]
rs12142460	1.00[ASN][1000 genomes]
rs12723906	1.00[ASN][1000 genomes]
rs12726443	1.00[ASN][1000 genomes]
rs12729173	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12732329	1.00[ASN][1000 genomes]
rs12741928	1.00[ASN][1000 genomes]
rs12750340	0.82[EUR][1000 genomes]
rs12751207	1.00[ASN][1000 genomes]
rs1526502	1.00[ASN][1000 genomes]
rs1526510	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1526511	1.00[ASN][1000 genomes]
rs1852348	1.00[ASN][1000 genomes]
rs1852349	1.00[ASN][1000 genomes]
rs280894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35453094	1.00[ASN][1000 genomes]
rs3912426	0.82[EUR][1000 genomes]
rs427227	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs432933	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6681258	1.00[ASN][1000 genomes]
rs6689348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6695423	1.00[ASN][1000 genomes]
rs71500673	1.00[ASN][1000 genomes]
rs7524020	1.00[ASN][1000 genomes]
rs795569	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs795571	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv871743	chr1:75235082-75714554	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3368999	chr1:75524762-75933220	Bivalent/Poised TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75539600-75545400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:75541200-75542400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr1:75541200-75545000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:75541200-75545400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr1:75541200-75546000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr1:75541400-75543200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:75541400-75543600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr1:75541400-75544000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr1:75541400-75544600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:75541400-75547800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr1:75541600-75544200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:75541800-75542600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr1:75541800-75543200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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