Variant report

Variant	rs11168973
Chromosome Location	chr12:49710572-49710573
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49708941..49711531-chr12:49715395..49717578,3	MCF-7	breast:
2	chr12:49709675..49711213-chr12:49736436..49739309,2	MCF-7	breast:
3	chr12:49709544..49713114-chr12:49715231..49717724,3	K562	blood:

Variant related genes	Relation type
ENSG00000135451	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10400435	0.89[ASN][1000 genomes]
rs10400567	0.89[ASN][1000 genomes]
rs11168970	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11168974	0.96[ASN][1000 genomes]
rs11168975	0.96[ASN][1000 genomes]
rs11503617	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11835037	0.88[CEU][hapmap]
rs11835303	0.93[ASN][1000 genomes]
rs12304800	0.81[AMR][1000 genomes]
rs12313435	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12313488	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12322335	0.93[CEU][hapmap]
rs12322783	0.87[CEU][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12322798	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12580931	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12822293	0.89[ASN][1000 genomes]
rs2070760	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2236746	0.93[CEU][hapmap]
rs28493849	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28691217	0.85[AMR][1000 genomes]
rs3088008	0.93[ASN][1000 genomes]
rs4243545	0.93[ASN][1000 genomes]
rs4898504	1.00[ASN][1000 genomes]
rs4898515	0.88[AMR][1000 genomes]
rs4898519	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs57241318	0.96[ASN][1000 genomes]
rs59575791	0.93[ASN][1000 genomes]
rs61455481	0.81[AMR][1000 genomes]
rs67236923	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67309388	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs68030039	0.83[AMR][1000 genomes]
rs7295247	0.93[CEU][hapmap]
rs73112143	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73309977	0.93[ASN][1000 genomes]
rs7342318	0.93[CEU][hapmap]
rs7342384	0.93[CEU][hapmap]
rs7488343	0.96[ASN][1000 genomes]
rs7975431	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7976060	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	esv3496631	chr12:49709066-49710604	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	esv3496642	chr12:49709066-49710604	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11168973	C1QL4	cis	Thyroid	GTEx

Chromatin state (count:4 , 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

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