Variant report

Variant	rs4316582
Chromosome Location	chr12:86042636-86042637
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11116993	0.83[AMR][1000 genomes]
rs11833551	1.00[AMR][1000 genomes]
rs12316200	0.83[AMR][1000 genomes]
rs12316964	0.83[AMR][1000 genomes]
rs12319540	0.83[AMR][1000 genomes]
rs12320271	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17013030	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17013093	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17013165	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17013264	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17013270	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59165763	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61390175	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7294826	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7298392	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7301672	1.00[AMR][1000 genomes]
rs7309356	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7316003	0.83[AMR][1000 genomes]
rs73371080	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73371084	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73373093	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73373095	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73373096	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73374906	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73374908	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73374909	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73375757	0.83[AFR][1000 genomes]
rs7953396	0.83[AMR][1000 genomes]
rs7966095	0.83[AMR][1000 genomes]
rs7972166	0.83[AMR][1000 genomes]
rs7973406	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817242	chr12:85622245-86069213	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1054573	chr12:85658602-86235433	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer 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	16 gene(s)	inside rSNPs	diseases
3	nsv1035600	chr12:85661373-86235433	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv2751125	chr12:85884858-86098240	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1043253	chr12:85888151-86125364	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1037938	chr12:85902517-86045125	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv2761758	chr12:85906092-86045137	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv559665	chr12:85908396-86070692	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv2751126	chr12:85912432-86061403	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1052187	chr12:85954455-86278200	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv541560	chr12:85954455-86278200	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv1054475	chr12:85985510-86175711	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv541561	chr12:85985510-86175711	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv430522	chr12:86010755-86069542	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv1042467	chr12:86017619-86078149	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv522439	chr12:86020998-86066266	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86040600-86042800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:86042200-86043800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr12:86042400-86043000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr12:86042600-86043200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr12:86042600-86043600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr12:86042600-86043800	Enhancers	HUES48 Cell Line	embryonic stem cell

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