Variant report

Variant	rs12312988
Chromosome Location	chr12:72784400-72784401
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10506654	1.00[CEU][hapmap];0.87[ASN][1000 genomes]
rs10735968	1.00[ASN][1000 genomes]
rs10879407	1.00[CEU][hapmap];0.87[ASN][1000 genomes]
rs10879408	1.00[CEU][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11179165	1.00[CEU][hapmap];0.87[ASN][1000 genomes]
rs11179166	1.00[CEU][hapmap]
rs11179167	1.00[CEU][hapmap]
rs11179171	1.00[CEU][hapmap];0.87[ASN][1000 genomes]
rs11179178	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs11179206	1.00[ASN][1000 genomes]
rs11179209	1.00[ASN][1000 genomes]
rs11179212	1.00[ASN][1000 genomes]
rs11179213	0.86[YRI][hapmap];1.00[ASN][1000 genomes]
rs11179215	1.00[ASN][1000 genomes]
rs11179218	1.00[ASN][1000 genomes]
rs11179220	1.00[ASN][1000 genomes]
rs12297838	1.00[CEU][hapmap]
rs12301142	1.00[ASN][1000 genomes]
rs12301315	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12303037	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12304638	1.00[CEU][hapmap]
rs12304721	1.00[ASN][1000 genomes]
rs12304897	0.87[ASN][1000 genomes]
rs12305426	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12305656	1.00[CEU][hapmap];0.82[YRI][hapmap]
rs12305935	1.00[ASN][1000 genomes]
rs12306682	1.00[CEU][hapmap]
rs12308561	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12309772	0.87[ASN][1000 genomes]
rs12311002	1.00[ASN][1000 genomes]
rs12311242	1.00[ASN][1000 genomes]
rs12311567	1.00[ASN][1000 genomes]
rs12311646	1.00[ASN][1000 genomes]
rs12313587	1.00[CEU][hapmap];0.87[ASN][1000 genomes]
rs12313642	1.00[ASN][1000 genomes]
rs12318484	1.00[ASN][1000 genomes]
rs12322599	1.00[ASN][1000 genomes]
rs12424953	0.84[EUR][1000 genomes]
rs12425053	1.00[ASN][1000 genomes]
rs12426300	0.87[ASN][1000 genomes]
rs1493843	1.00[ASN][1000 genomes]
rs17111086	1.00[CEU][hapmap]
rs17111090	1.00[CEU][hapmap]
rs17111091	1.00[CEU][hapmap]
rs17111098	1.00[CEU][hapmap]
rs17111101	1.00[CEU][hapmap]
rs17111106	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs17111115	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17111127	1.00[CEU][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17111159	1.00[ASN][1000 genomes]
rs17111172	1.00[ASN][1000 genomes]
rs17111173	1.00[ASN][1000 genomes]
rs17111176	1.00[ASN][1000 genomes]
rs17111190	1.00[ASN][1000 genomes]
rs17111210	1.00[ASN][1000 genomes]
rs1867507	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55787921	0.87[ASN][1000 genomes]
rs56270780	1.00[ASN][1000 genomes]
rs61497936	1.00[ASN][1000 genomes]
rs7135873	1.00[ASN][1000 genomes]
rs7137940	1.00[CEU][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73342673	0.84[EUR][1000 genomes]
rs73344431	1.00[ASN][1000 genomes]
rs7961500	1.00[ASN][1000 genomes]
rs7966773	1.00[CEU][hapmap]

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	esv2422452	chr12:72485933-73175581	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv899257	chr12:72569746-73145896	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv899258	chr12:72624088-72957899	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1044083	chr12:72647640-73275526	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv469465	chr12:72655925-73259114	Weak transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv559363	chr12:72655925-73259114	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv868884	chr12:72664763-73241518	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1052799	chr12:72752760-72820618	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv541533	chr12:72752760-72820618	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv832453	chr12:72778058-72966827	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr12:72764200-72787000	Weak transcription	Fetal Kidney	kidney
2	chr12:72764800-72787000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr12:72783400-72784400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr12:72783400-72784600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:72783600-72784400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr12:72783600-72784600	Enhancers	HUES64 Cell Line	embryonic stem cell

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