Variant report

Variant	rs72742122
Chromosome Location	chr5:12316995-12316996
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs28550171	1.00[EUR][1000 genomes]
rs6869269	1.00[EUR][1000 genomes]
rs6879402	0.92[EUR][1000 genomes]
rs72740263	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72742111	0.91[EUR][1000 genomes]
rs72742112	0.91[EUR][1000 genomes]
rs72742125	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72742128	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72742137	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72742139	0.91[EUR][1000 genomes]
rs72742140	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72742160	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72742162	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72742164	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72742166	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72742168	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72742171	1.00[EUR][1000 genomes]
rs72742172	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72742173	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72742174	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72742176	1.00[EUR][1000 genomes]
rs72742178	1.00[EUR][1000 genomes]
rs72742179	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72742180	1.00[EUR][1000 genomes]
rs72742181	1.00[EUR][1000 genomes]
rs72744021	1.00[EUR][1000 genomes]
rs72744022	1.00[EUR][1000 genomes]
rs72744023	1.00[EUR][1000 genomes]
rs7704268	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7712169	1.00[EUR][1000 genomes]
rs7727884	1.00[EUR][1000 genomes]
rs7728008	1.00[EUR][1000 genomes]
rs7728111	0.92[EUR][1000 genomes]
rs7732151	1.00[EUR][1000 genomes]
rs7735546	1.00[AMR][1000 genomes];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	nsv1025096	chr5:12049731-12778382	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv537660	chr5:12049731-12778382	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv880704	chr5:12132401-12338203	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv880364	chr5:12153033-12330841	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1030580	chr5:12254774-12364629	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1015676	chr5:12276531-12540904	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv427711	chr5:12285375-12747819	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv1026529	chr5:12285675-12387812	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1017000	chr5:12285675-12451819	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv537664	chr5:12285675-12451819	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv917255	chr5:12310838-12929427	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:12315800-12320600	Weak transcription	HMEC	breast
2	chr5:12315800-12321200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:12316000-12321600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr5:12316800-12317400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr5:12316800-12317400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr5:12316800-12317400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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