Variant report

Variant	rs1232981
Chromosome Location	chr12:47973661-47973662
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	chr12:47969970..47972142-chr12:47972144..47974115,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10875679	0.86[AMR][1000 genomes]
rs1153975	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1232968	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1232976	0.96[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1232977	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1232980	0.98[ASN][1000 genomes]
rs1232982	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1232983	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1232985	0.92[CEU][hapmap];0.90[JPT][hapmap];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1232986	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1232987	0.89[JPT][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs1233045	0.86[AMR][1000 genomes]
rs1233046	0.85[CEU][hapmap]
rs1233047	0.86[CEU][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes]
rs1233049	0.86[AMR][1000 genomes]
rs1233050	0.86[AMR][1000 genomes]
rs1233052	0.85[CEU][hapmap];0.84[JPT][hapmap]
rs1233055	0.85[CEU][hapmap]
rs1233061	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1235151	0.86[AMR][1000 genomes]
rs1237842	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2022526	0.93[CEU][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2022527	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2155794	0.90[JPT][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs2155795	0.92[CEU][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2525448	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2525449	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2847431	0.82[ASN][1000 genomes]
rs2847433	0.86[AMR][1000 genomes]
rs2847434	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs590089	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs605026	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs611208	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs612096	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61917588	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs622728	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs623947	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs628070	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs652457	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs652543	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs652898	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs663945	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs666154	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs667610	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs681100	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs682782	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs688815	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs727121	0.83[ASN][1000 genomes]
rs948392	0.86[CEU][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes]
rs948394	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv558785	chr12:47740440-48044011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	nsv832400	chr12:47840248-48024605	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv430507	chr12:47883933-48079507	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1051131	chr12:47883981-48016556	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv899056	chr12:47940764-48012390	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv2751101	chr12:47940858-48126885	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv558786	chr12:47942029-48044011	Strong transcription Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv558787	chr12:47945797-47981313	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv558788	chr12:47945797-48012390	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	esv2761737	chr12:47946795-48045722	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1053061	chr12:47946795-48045722	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv899057	chr12:47947551-48012390	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv1050043	chr12:47949004-48087218	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv527728	chr12:47954597-48044506	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47969400-47974400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr12:47970600-47974000	Weak transcription	Ovary	ovary
3	chr12:47971400-47978000	Weak transcription	Colon Smooth Muscle	Colon
4	chr12:47971600-47978000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:47972000-47975200	Weak transcription	Brain Germinal Matrix	brain
6	chr12:47973400-47973800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:47973400-47973800	Enhancers	Fetal Muscle Trunk	muscle
8	chr12:47973600-47975200	Weak transcription	Fetal Muscle Leg	muscle

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