Variant report

Variant	rs11830144
Chromosome Location	chr12:49709867-49709868
allele	G/T
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: 31 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11168971	0.84[EUR][1000 genomes]
rs11169016	1.00[CHD][hapmap]
rs11169048	1.00[CHD][hapmap]
rs11834161	1.00[CHD][hapmap]
rs12301632	1.00[CHD][hapmap]
rs12305716	1.00[CHD][hapmap]
rs12306118	1.00[CHD][hapmap]
rs12315996	1.00[CHD][hapmap]
rs12318618	0.81[TSI][hapmap]
rs12322561	1.00[CHD][hapmap]
rs2272478	1.00[CHD][hapmap]
rs6580707	1.00[CHD][hapmap]
rs6580709	1.00[CHD][hapmap]
rs6580716	1.00[CHD][hapmap]
rs7294648	1.00[CHD][hapmap]
rs7294973	1.00[CHD][hapmap]
rs7295162	1.00[CHD][hapmap]
rs73309973	0.89[AMR][1000 genomes]
rs7397166	0.85[AMR][1000 genomes]
rs7955541	1.00[CHD][hapmap]
rs7962951	1.00[CHD][hapmap]
rs7969099	1.00[CHD][hapmap]
rs7976165	1.00[CHD][hapmap]

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
rs11830144	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	chr12:49709000-49710000	Enhancers	Duodenum Mucosa	Duodenum
3	chr12:49709600-49715800	Weak transcription	NHEK	skin
4	chr12:49709600-49716000	Weak transcription	Fetal Intestine Small	intestine
5	chr12:49709800-49716000	Weak transcription	HMEC	breast

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