Variant report

Variant	rs12185052
Chromosome Location	chr14:32292946-32292947
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:32290973..32293409-chr14:32296388..32299179,4	K562	blood:
2	chr14:32290973..32293409-chr14:32296887..32298672,2	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10132352	1.00[ASN][1000 genomes]
rs10133717	1.00[ASN][1000 genomes]
rs10133942	1.00[ASN][1000 genomes]
rs11156708	1.00[CEU][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11156720	1.00[ASN][1000 genomes]
rs11621039	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11621248	1.00[ASN][1000 genomes]
rs11621390	1.00[ASN][1000 genomes]
rs11621521	1.00[ASN][1000 genomes]
rs11621686	1.00[ASN][1000 genomes]
rs11622367	1.00[ASN][1000 genomes]
rs11622373	1.00[ASN][1000 genomes]
rs11624141	1.00[ASN][1000 genomes]
rs11624290	1.00[ASN][1000 genomes]
rs11624768	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624788	1.00[CEU][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11626536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11627538	1.00[CEU][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11628274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11848123	1.00[ASN][1000 genomes]
rs11848353	1.00[ASN][1000 genomes]
rs11848392	1.00[ASN][1000 genomes]
rs1430426	1.00[CEU][hapmap]
rs17098218	1.00[ASN][1000 genomes]
rs17098247	1.00[ASN][1000 genomes]
rs17098251	1.00[ASN][1000 genomes]
rs17379796	1.00[ASN][1000 genomes]
rs17379852	1.00[ASN][1000 genomes]
rs17379887	1.00[ASN][1000 genomes]
rs17381661	1.00[ASN][1000 genomes]
rs17464629	1.00[ASN][1000 genomes]
rs17464712	1.00[ASN][1000 genomes]
rs17464726	1.00[ASN][1000 genomes]
rs1953269	1.00[ASN][1000 genomes]
rs1953274	1.00[ASN][1000 genomes]
rs28494034	1.00[ASN][1000 genomes]
rs34753663	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3993	1.00[ASN][1000 genomes]
rs4525402	1.00[CEU][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4525403	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55835620	1.00[ASN][1000 genomes]
rs58503445	1.00[ASN][1000 genomes]
rs58675313	1.00[ASN][1000 genomes]
rs59776229	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7147907	1.00[ASN][1000 genomes]
rs7148175	1.00[ASN][1000 genomes]
rs7148196	1.00[ASN][1000 genomes]
rs7148222	1.00[ASN][1000 genomes]
rs7148561	1.00[ASN][1000 genomes]
rs7153389	1.00[ASN][1000 genomes]
rs7153738	1.00[ASN][1000 genomes]
rs73253276	1.00[ASN][1000 genomes]
rs73255125	1.00[ASN][1000 genomes]
rs73255184	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73255188	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259069	1.00[ASN][1000 genomes]
rs73259070	1.00[ASN][1000 genomes]
rs74041532	1.00[ASN][1000 genomes]
rs74041533	1.00[ASN][1000 genomes]
rs8004536	1.00[ASN][1000 genomes]
rs8004792	1.00[ASN][1000 genomes]
rs8005547	1.00[ASN][1000 genomes]
rs8006327	1.00[ASN][1000 genomes]
rs8009002	1.00[ASN][1000 genomes]
rs8009753	1.00[ASN][1000 genomes]
rs8016264	1.00[ASN][1000 genomes]
rs8016527	1.00[ASN][1000 genomes]
rs8020792	1.00[ASN][1000 genomes]
rs970488	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564180	chr14:31958566-32368934	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv564181	chr14:31958761-32363980	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers 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	10 gene(s)	inside rSNPs	diseases
3	nsv564182	chr14:32110519-32584337	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv1046526	chr14:32110537-32567426	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv901593	chr14:32282564-32350371	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32250600-32322400	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr14:32281800-32330200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr14:32282600-32298000	Weak transcription	Fetal Stomach	stomach
4	chr14:32288400-32298200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr14:32288800-32295800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:32289200-32298200	Weak transcription	Placenta	Placenta
7	chr14:32291000-32299600	Weak transcription	Brain Anterior Caudate	brain
8	chr14:32291000-32310400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr14:32291200-32298600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:32292200-32293200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr14:32292400-32293200	Enhancers	Fetal Heart	heart
12	chr14:32292600-32293000	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr14:32292800-32295400	Weak transcription	Primary B cells from cord blood	blood
14	chr14:32292800-32296600	Weak transcription	Primary T cells from cord blood	blood

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