Variant report

Variant	rs33210
Chromosome Location	chr12:31064632-31064633
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	chr12:31063762..31066653-chr12:31068189..31070611,2	K562	blood:
2	chr12:31063874..31066002-chr12:31083561..31086374,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11051136	0.91[EUR][1000 genomes]
rs11051143	0.94[EUR][1000 genomes]
rs12322523	0.88[EUR][1000 genomes]
rs12828817	0.94[EUR][1000 genomes]
rs2629426	0.96[EUR][1000 genomes]
rs33207	0.90[EUR][1000 genomes]
rs33209	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33211	0.96[EUR][1000 genomes]
rs33214	0.96[EUR][1000 genomes]
rs33215	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33216	0.96[EUR][1000 genomes]
rs33217	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33218	0.96[EUR][1000 genomes]
rs34352926	0.94[EUR][1000 genomes]
rs34397838	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34634684	0.94[EUR][1000 genomes]
rs35274629	0.94[EUR][1000 genomes]
rs56203216	0.94[EUR][1000 genomes]
rs56653968	0.95[ASN][1000 genomes]
rs57385044	0.95[ASN][1000 genomes]
rs58201849	0.95[ASN][1000 genomes]
rs59216191	0.95[ASN][1000 genomes]
rs59369734	0.82[ASN][1000 genomes]
rs67353217	0.94[EUR][1000 genomes]
rs674417	0.85[CEU][hapmap];0.93[TSI][hapmap]
rs675206	0.85[CEU][hapmap]
rs73284434	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949148	chr12:30800040-31131712	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1052957	chr12:30951520-31191197	Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv541439	chr12:30951520-31191197	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1052869	chr12:30951520-31399162	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	esv2422447	chr12:30954811-31449815	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv832362	chr12:30957786-31124983	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1053711	chr12:30959987-31156297	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv558030	chr12:30969675-31266287	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
10	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs33210	UTS2	trans	lymphoblastoid	seeQTL
rs33210	CNTN6	trans	lymphoblastoid	seeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31059000-31066200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:31060800-31065000	Enhancers	Fetal Stomach	stomach
3	chr12:31062800-31066200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr12:31063000-31069800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr12:31063200-31065800	Weak transcription	GM12878-XiMat	blood
6	chr12:31063200-31067600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:31063200-31067800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr12:31063200-31069600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr12:31063400-31064800	Weak transcription	Fetal Muscle Leg	muscle
10	chr12:31063800-31064800	Enhancers	Fetal Lung	lung
11	chr12:31063800-31065000	Enhancers	Fetal Brain Male	brain
12	chr12:31063800-31065000	Enhancers	Ovary	ovary
13	chr12:31064200-31069800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr12:31064400-31064800	Enhancers	Brain Substantia Nigra	brain
15	chr12:31064600-31065000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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