Variant report

Variant	rs57375190
Chromosome Location	chr1:196356417-196356418
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:196355400..196357247-chr1:196358830..196361358,2	K562	blood:
2	chr1:196350682..196352387-chr1:196355306..196358065,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

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]
rs57259842	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57291296	1.00[EUR][1000 genomes]
rs59464070	1.00[EUR][1000 genomes]
rs59564010	0.95[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]
rs6682755	1.00[EUR][1000 genomes]
rs6684014	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6695890	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6701301	1.00[EUR][1000 genomes]
rs6701566	1.00[EUR][1000 genomes]
rs6702372	1.00[EUR][1000 genomes]
rs73063979	1.00[EUR][1000 genomes]
rs73067641	1.00[EUR][1000 genomes]
rs73067647	0.82[AFR][1000 genomes];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	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73067662	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73067663	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73067664	1.00[EUR][1000 genomes]
rs73067676	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73067680	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73067681	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73067684	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]
rs7523390	1.00[EUR][1000 genomes]
rs7531235	0.95[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:11 , 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	esv1826904	chr1:196291977-196371432	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
6	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
7	nsv872954	chr1:196304863-196387809	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv872955	chr1:196339655-196374780	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
9	nsv548742	chr1:196339655-196391866	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
10	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
11	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196343400-196377200	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr1:196343600-196362200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr1:196343600-196369200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr1:196343800-196362200	Weak transcription	Liver	Liver
5	chr1:196349400-196368600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:196355000-196356600	Weak transcription	HSMMtube	muscle
7	chr1:196356400-196357400	Enhancers	Osteobl	bone
8	chr1:196356400-196375600	Weak transcription	Fetal Kidney	kidney

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