Variant report

Variant	rs16972467
Chromosome Location	chr15:42309566-42309567
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:42301860..42304416-chr15:42306961..42309599,2	K562	blood:
2	chr15:42294519..42296729-chr15:42308875..42311761,2	K562	blood:

Variant related genes	Relation type
ENSG00000188089	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11632564	0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs11632634	0.80[ASN][1000 genomes]
rs1530835	0.86[EUR][1000 genomes]
rs16972456	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16972470	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16972493	0.86[ASN][1000 genomes]
rs16972496	0.80[ASN][1000 genomes]
rs16972499	0.84[ASN][1000 genomes]
rs16972507	0.80[ASN][1000 genomes]
rs2412654	0.86[ASN][1000 genomes]
rs2412655	0.86[ASN][1000 genomes]
rs28422161	0.81[ASN][1000 genomes]
rs28460654	0.80[ASN][1000 genomes]
rs28526333	0.83[ASN][1000 genomes]
rs55845751	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55971911	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7175498	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7176399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7182355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397815	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397843	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7496336	0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs8029818	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv1035998	chr15:42098896-42434254	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv529687	chr15:42157320-42621682	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv1054728	chr15:42177772-42310009	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv1049445	chr15:42239738-42830484	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
6	nsv542366	chr15:42239738-42830484	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
7	nsv569235	chr15:42304628-42326259	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42290400-42310400	Weak transcription	Right Atrium	heart
2	chr15:42305400-42312800	Weak transcription	Esophagus	oesophagus
3	chr15:42305600-42312600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:42306000-42310600	Weak transcription	Spleen	Spleen
5	chr15:42307200-42313200	Weak transcription	Lung	lung
6	chr15:42309000-42309600	Enhancers	Fetal Muscle Trunk	muscle
7	chr15:42309000-42310400	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr15:42309000-42312800	Enhancers	Fetal Muscle Leg	muscle
9	chr15:42309200-42310000	Enhancers	Psoas Muscle	Psoas
10	chr15:42309200-42310200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr15:42309400-42309600	Enhancers	Right Ventricle	heart
12	chr15:42309400-42312800	Enhancers	Skeletal Muscle Male	skeletal muscle

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