Variant report

Variant	rs501167
Chromosome Location	chr12:121574089-121574090
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	chr12:121570400..121573469-chr12:121573505..121577665,4	K562	blood:

Variant related genes	Relation type
ENSG00000089041	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11065434	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11065442	0.93[ASN][1000 genomes]
rs1180011	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1180012	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1180015	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1183296	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1185268	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs169631	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs169632	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs169633	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1794897	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1796422	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs183283	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs189989	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs208277	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs208280	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs208284	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs208287	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs208290	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs208293	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2263271	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2393799	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2686352	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs500930	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs570984	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs575572	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs582315	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs591874	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs636719	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs656612	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs665794	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs671684	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs676262	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs685019	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7309886	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv430537	chr12:121487632-121579955	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	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
12	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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121570800-121575000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:121571200-121576400	Weak transcription	Spleen	Spleen
3	chr12:121571400-121582800	Weak transcription	Lung	lung
4	chr12:121571400-121594000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:121571600-121576400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr12:121571600-121576800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:121571600-121577200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:121571600-121579600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr12:121571800-121575400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr12:121571800-121575800	Weak transcription	Thymus	Thymus
11	chr12:121571800-121581600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:121571800-121582400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:121571800-121623200	Weak transcription	Colonic Mucosa	Colon
14	chr12:121572000-121582800	Weak transcription	Primary B cells from cord blood	blood
15	chr12:121572200-121574600	Weak transcription	Primary T cells from cord blood	blood
16	chr12:121572200-121575000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr12:121572200-121582200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr12:121572200-121582400	Weak transcription	NHLF	lung
19	chr12:121572200-121583000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr12:121572200-121599800	Weak transcription	Colon Smooth Muscle	Colon
21	chr12:121572600-121580000	Weak transcription	Ovary	ovary
22	chr12:121572600-121592600	Weak transcription	Liver	Liver
23	chr12:121572800-121574200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:121572800-121575800	Weak transcription	Brain Substantia Nigra	brain
25	chr12:121572800-121579600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:121572800-121581400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr12:121572800-121581800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr12:121572800-121601600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr12:121573000-121574200	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr12:121573000-121575600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr12:121573400-121574200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr12:121573400-121580000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:121573600-121574800	Weak transcription	Brain Hippocampus Middle	brain
34	chr12:121573600-121575600	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr12:121573800-121574200	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr12:121574000-121574200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:121574000-121574200	Flanking Active TSS	Brain Angular Gyrus	brain
38	chr12:121574000-121574200	Flanking Active TSS	Brain Cingulate Gyrus	brain
39	chr12:121574000-121574200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
40	chr12:121574000-121574400	Enhancers	Brain Anterior Caudate	brain

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