Variant report

Variant	rs57259842
Chromosome Location	chr1:196393619-196393620
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10733085	1.00[EUR][1000 genomes]
rs10754186	1.00[EUR][1000 genomes]
rs11810886	1.00[EUR][1000 genomes]
rs1339953	1.00[EUR][1000 genomes]
rs57291296	1.00[EUR][1000 genomes]
rs57375190	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59464070	1.00[EUR][1000 genomes]
rs59564010	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60858311	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61005987	1.00[EUR][1000 genomes]
rs6676437	1.00[EUR][1000 genomes]
rs6676634	1.00[EUR][1000 genomes]
rs6682755	1.00[EUR][1000 genomes]
rs6684014	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6695890	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6701301	1.00[EUR][1000 genomes]
rs6701566	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6702372	1.00[EUR][1000 genomes]
rs73063979	1.00[EUR][1000 genomes]
rs73067641	1.00[EUR][1000 genomes]
rs73067647	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73067650	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73067655	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73067657	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73067662	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73067663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73067664	1.00[EUR][1000 genomes]
rs73067676	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73067680	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73067681	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73067684	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73067685	1.00[EUR][1000 genomes]
rs73067688	1.00[EUR][1000 genomes]
rs73067689	1.00[EUR][1000 genomes]
rs73067702	1.00[EUR][1000 genomes]
rs73069708	1.00[EUR][1000 genomes]
rs73069711	1.00[EUR][1000 genomes]
rs73069713	1.00[EUR][1000 genomes]
rs73069718	1.00[EUR][1000 genomes]
rs73069736	1.00[EUR][1000 genomes]
rs73069738	1.00[EUR][1000 genomes]
rs73069741	1.00[EUR][1000 genomes]
rs73069743	1.00[EUR][1000 genomes]
rs73069750	1.00[EUR][1000 genomes]
rs73069787	1.00[EUR][1000 genomes]
rs73069791	1.00[EUR][1000 genomes]
rs73069796	1.00[EUR][1000 genomes]
rs7523390	1.00[EUR][1000 genomes]
rs7531235	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9659561	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9662866	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9728591	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469680	chr1:196259846-196419016	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv482746	chr1:196259846-196419016	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv931415	chr1:196270759-196744780	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv872953	chr1:196286639-196411281	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1009233	chr1:196301712-196568874	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
6	nsv872956	chr1:196339655-196411281	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv872957	chr1:196347066-196411281	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196358000-196393800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr1:196377200-196398600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:196377600-196403200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:196377800-196402800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:196378200-196400200	Weak transcription	Fetal Kidney	kidney
6	chr1:196383800-196398800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr1:196387200-196403200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:196387400-196394200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr1:196388200-196393800	Weak transcription	Ovary	ovary
10	chr1:196389600-196401200	Weak transcription	Fetal Muscle Leg	muscle
11	chr1:196390600-196399000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr1:196391600-196403000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:196392600-196395200	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr1:196393200-196395800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:196393400-196394400	Weak transcription	Liver	Liver
16	chr1:196393400-196395200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:196393600-196398000	Strong transcription	HUES64 Cell Line	embryonic stem cell

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