Variant report

Variant	rs11168974
Chromosome Location	chr12:49714623-49714624
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49663971..49666837-chr12:49712458..49715347,2	K562	blood:
2	chr12:49684454..49687869-chr12:49714567..49717463,3	K562	blood:
3	chr12:49689378..49691969-chr12:49713640..49716013,3	K562	blood:
4	chr12:49689988..49692308-chr12:49713640..49717456,5	K562	blood:
5	chr1:227678598..227681578-chr12:49714461..49716168,2	K562	blood:
6	chr12:49686580..49692358-chr12:49712251..49718367,13	MCF-7	breast:
7	chr12:49657320..49660807-chr12:49714613..49719662,6	K562	blood:

Variant related genes	Relation type
ENSG00000167553	Chromatin interaction
ENSG00000258101	Chromatin interaction
ENSG00000135406	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10400435	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10400567	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11168973	0.96[ASN][1000 genomes]
rs11168975	1.00[ASN][1000 genomes]
rs11503617	0.96[ASN][1000 genomes]
rs11835303	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12313488	0.96[ASN][1000 genomes]
rs12580931	0.92[ASN][1000 genomes]
rs12822293	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2070760	0.92[ASN][1000 genomes]
rs28493849	0.92[ASN][1000 genomes]
rs3088008	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4243545	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4898504	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4898519	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57241318	1.00[ASN][1000 genomes]
rs59575791	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67236923	0.92[ASN][1000 genomes]
rs67309388	0.92[ASN][1000 genomes]
rs73112143	0.92[ASN][1000 genomes]
rs73309977	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7488343	0.92[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	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
4	nsv428801	chr12:49536659-49744884	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
5	nsv1042122	chr12:49678529-49823168	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
6	nsv1039176	chr12:49678529-49832618	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
7	nsv899068	chr12:49714103-49924637	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11168974	C1QL4	cis	Thyroid	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49703800-49715600	Weak transcription	K562	blood
2	chr12:49709600-49715800	Weak transcription	NHEK	skin
3	chr12:49709600-49716000	Weak transcription	Fetal Intestine Small	intestine
4	chr12:49709800-49716000	Weak transcription	HMEC	breast
5	chr12:49714600-49715600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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