Variant report

Variant	rs7705498
Chromosome Location	chr5:12315434-12315435
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10059121	0.84[ASN][1000 genomes]
rs10072442	0.81[EUR][1000 genomes]
rs10073418	0.84[EUR][1000 genomes]
rs10513107	0.84[EUR][1000 genomes]
rs11741576	0.86[EUR][1000 genomes]
rs11745503	0.82[EUR][1000 genomes]
rs11746644	0.84[EUR][1000 genomes]
rs11956485	0.81[ASN][1000 genomes]
rs12514692	0.88[EUR][1000 genomes]
rs12515325	0.81[EUR][1000 genomes]
rs12518546	0.82[EUR][1000 genomes]
rs12523517	0.84[EUR][1000 genomes]
rs13159540	0.81[EUR][1000 genomes]
rs13184895	0.84[EUR][1000 genomes]
rs4440360	0.84[EUR][1000 genomes]
rs4552595	0.82[EUR][1000 genomes]
rs4580774	0.83[ASN][1000 genomes]
rs58300588	0.84[EUR][1000 genomes]
rs67479936	0.88[EUR][1000 genomes]
rs6879027	0.81[EUR][1000 genomes]
rs7700684	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7700838	0.85[EUR][1000 genomes]
rs7701108	0.85[EUR][1000 genomes]
rs7701437	0.83[ASN][1000 genomes]
rs7706464	0.83[ASN][1000 genomes]
rs7726398	0.82[EUR][1000 genomes]
rs7729412	0.86[ASN][1000 genomes]
rs9312796	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:12315200-12315600	Enhancers	Fetal Brain Male	brain
2	chr5:12315400-12315600	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr5:12315400-12315600	Enhancers	H9 Cell Line	embryonic stem cell
4	chr5:12315400-12315600	Enhancers	HMEC	breast

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