Variant report

Variant	rs60625314
Chromosome Location	chr7:124593899-124593900
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:124584280..124585909-chr7:124591798..124594072,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10429002	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28495399	0.86[EUR][1000 genomes]
rs56027755	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56201984	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56814856	0.86[EUR][1000 genomes]
rs57238558	0.86[EUR][1000 genomes]
rs58951741	0.86[EUR][1000 genomes]
rs59925676	0.86[EUR][1000 genomes]
rs60905609	0.86[EUR][1000 genomes]
rs61037807	0.86[EUR][1000 genomes]
rs61043257	0.86[EUR][1000 genomes]
rs61227096	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61429625	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61449025	0.86[EUR][1000 genomes]
rs61484079	0.86[EUR][1000 genomes]
rs61598567	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66597683	0.86[EUR][1000 genomes]
rs66613685	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67066083	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67211225	0.86[EUR][1000 genomes]
rs67449341	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67501403	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67504575	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67573953	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67617850	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67652374	0.86[EUR][1000 genomes]
rs67985498	0.86[AFR][1000 genomes]
rs68032029	0.86[EUR][1000 genomes]
rs73225404	0.86[AFR][1000 genomes]
rs73227528	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73432438	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	nsv608342	chr7:124549573-124600505	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1016655	chr7:124575684-124684279	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1032336	chr7:124590688-124673373	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1025873	chr7:124591433-124668423	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv2761363	chr7:124591433-124673373	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1034654	chr7:124591433-124673373	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv981414	chr7:124592863-124594745	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv3380482	chr7:124593050-124628896	Enhancers ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124591600-124594800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:124592600-124597800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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