Variant report

Variant	rs608425
Chromosome Location	chr12:121580753-121580754
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	chr12:121576075..121577787-chr12:121578961..121580944,2	K562	blood:
2	chr12:121577786..121581315-chr12:121582515..121587821,6	K562	blood:

Variant related genes	Relation type
ENSG00000257053	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1169714	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1180009	0.83[ASN][1000 genomes]
rs12320058	0.83[ASN][1000 genomes]
rs1653583	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1653584	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1653585	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1718124	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1718149	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1718162	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1794886	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1794887	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1794898	0.83[ASN][1000 genomes]
rs208288	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2686369	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35646440	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3861795	0.83[ASN][1000 genomes]
rs487417	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs510660	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs511496	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs535557	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56720891	0.83[ASN][1000 genomes]
rs568531	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57263663	0.86[ASN][1000 genomes]
rs57902817	0.83[ASN][1000 genomes]
rs590477	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs592340	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs593223	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs594423	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs607094	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs622937	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs657995	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs669547	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs672140	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421546	0.86[ASN][1000 genomes]
rs73421551	0.86[ASN][1000 genomes]
rs73421553	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	esv2758318	chr12:121415845-121584813	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv2759917	chr12:121415845-121584813	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv832531	chr12:121440495-121604232	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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
10	nsv899563	chr12:121543011-121600529	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	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

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121571400-121582800	Weak transcription	Lung	lung
2	chr12:121571400-121594000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:121571800-121581600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:121571800-121582400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:121571800-121623200	Weak transcription	Colonic Mucosa	Colon
6	chr12:121572000-121582800	Weak transcription	Primary B cells from cord blood	blood
7	chr12:121572200-121582200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr12:121572200-121582400	Weak transcription	NHLF	lung
9	chr12:121572200-121583000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr12:121572200-121599800	Weak transcription	Colon Smooth Muscle	Colon
11	chr12:121572600-121592600	Weak transcription	Liver	Liver
12	chr12:121572800-121581400	Weak transcription	Primary B cells from peripheral blood	blood
13	chr12:121572800-121581800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr12:121572800-121601600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr12:121576400-121580800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:121576400-121582400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:121576600-121581400	Weak transcription	K562	blood
18	chr12:121576600-121581800	Weak transcription	HepG2	liver
19	chr12:121576600-121592400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr12:121577000-121593400	Weak transcription	Primary T cells from cord blood	blood
21	chr12:121577400-121582000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr12:121578200-121585200	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr12:121578200-121592400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr12:121579200-121581200	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:121579600-121580800	Strong transcription	Brain Angular Gyrus	brain
26	chr12:121580200-121581000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr12:121580200-121581400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:121580200-121581400	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr12:121580200-121581800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr12:121580200-121582400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:121580200-121582600	Weak transcription	Brain Anterior Caudate	brain
32	chr12:121580400-121581600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:121580400-121581800	Weak transcription	Brain Hippocampus Middle	brain
34	chr12:121580400-121581800	Weak transcription	Brain Substantia Nigra	brain
35	chr12:121580400-121592000	Weak transcription	Ovary	ovary
36	chr12:121580400-121592400	Weak transcription	Brain Inferior Temporal Lobe	brain

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