Variant report

Variant	rs57419819
Chromosome Location	chr12:121644904-121644905
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121643831..121646083-chr12:121646427..121647950,2	MCF-7	breast:
2	chr12:121634791..121636567-chr12:121644392..121646560,2	K562	blood:
3	chr12:121631393..121634582-chr12:121643500..121647311,3	K562	blood:

Variant related genes	Relation type
ENSG00000135124	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11065481	0.88[ASN][1000 genomes]
rs1169721	0.88[ASN][1000 genomes]
rs1653586	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1653587	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1653588	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1653589	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1653590	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1653592	0.88[EUR][1000 genomes]
rs1653593	0.88[EUR][1000 genomes]
rs1718156	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1718158	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2071272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2071273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2252298	0.88[EUR][1000 genomes]
rs2252304	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2272076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288691	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2288693	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs25642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2567982	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2668239	0.88[EUR][1000 genomes]
rs2668246	0.88[EUR][1000 genomes]
rs2686339	0.88[EUR][1000 genomes]
rs2686372	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28969487	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3751145	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs3763975	0.94[ASN][1000 genomes]
rs3815990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57379013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57983015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59037892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60714133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60979871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv899564	chr12:121641509-121689798	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv899565	chr12:121641509-121698785	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121624200-121647200	Weak transcription	Brain Anterior Caudate	brain
2	chr12:121625600-121647200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr12:121628000-121647200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:121630400-121647200	Weak transcription	Brain Hippocampus Middle	brain
5	chr12:121641000-121647000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr12:121641400-121646800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:121641400-121647800	Weak transcription	Gastric	stomach
8	chr12:121641600-121646800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:121641600-121646800	Weak transcription	K562	blood
10	chr12:121641600-121647200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:121641800-121647400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:121643000-121647000	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr12:121643000-121647000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:121643000-121647200	Weak transcription	Adipose Nuclei	Adipose
15	chr12:121643000-121647600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:121643400-121647000	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr12:121643600-121647200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr12:121643600-121648000	Weak transcription	Fetal Heart	heart
19	chr12:121643800-121647200	Weak transcription	HUVEC	blood vessel
20	chr12:121644600-121645400	Enhancers	Placenta	Placenta

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