Variant report

Variant	rs7530057
Chromosome Location	chr1:213076351-213076352
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10779596	0.89[ASN][1000 genomes]
rs10864024	0.93[ASN][1000 genomes]
rs10864030	0.89[ASN][1000 genomes]
rs11120063	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12038555	0.91[ASN][1000 genomes]
rs12040492	0.91[ASN][1000 genomes]
rs12074192	0.93[ASN][1000 genomes]
rs12075289	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12087098	0.83[ASN][1000 genomes]
rs12135746	0.89[ASN][1000 genomes]
rs12405742	0.86[ASN][1000 genomes]
rs12408694	0.93[ASN][1000 genomes]
rs12760321	0.87[ASN][1000 genomes]
rs1284851	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1284853	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1390501	0.93[ASN][1000 genomes]
rs15903	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2359323	0.89[ASN][1000 genomes]
rs2359326	0.93[ASN][1000 genomes]
rs2644549	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2792562	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4951650	0.89[ASN][1000 genomes]
rs4951651	0.89[ASN][1000 genomes]
rs58128459	0.96[ASN][1000 genomes]
rs6663574	0.87[ASN][1000 genomes]
rs6671740	0.80[ASN][1000 genomes]
rs6674782	0.81[ASN][1000 genomes]
rs6679775	0.96[ASN][1000 genomes]
rs6682947	0.93[ASN][1000 genomes]
rs6683314	0.93[ASN][1000 genomes]
rs6697099	0.87[ASN][1000 genomes]
rs6697126	0.96[ASN][1000 genomes]
rs6701782	0.89[ASN][1000 genomes]
rs7553536	0.93[ASN][1000 genomes]
rs9429894	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9429895	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[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	nsv1008383	chr1:213025546-213114894	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1007129	chr1:213037244-213083261	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213070000-213076600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:213072200-213077000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
3	chr1:213073200-213079200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr1:213073200-213079400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr1:213073200-213079800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr1:213073600-213076400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:213073600-213079200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
8	chr1:213073800-213079200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:213073800-213079200	Weak transcription	Right Atrium	heart
10	chr1:213073800-213089000	Weak transcription	Pancreas	Pancrea
11	chr1:213074400-213076600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr1:213075200-213079000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
13	chr1:213075800-213076800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:213076000-213076800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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