Variant report

Variant	rs208287
Chromosome Location	chr12:121587353-121587354
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11065434	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11065442	0.95[ASN][1000 genomes]
rs1180011	0.89[ASN][1000 genomes]
rs1180012	0.91[ASN][1000 genomes]
rs1180015	0.89[ASN][1000 genomes]
rs1183296	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1185268	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs169631	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs169632	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs169633	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1794897	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1796422	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs183283	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs189989	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs208277	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs208280	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs208284	0.91[ASN][1000 genomes]
rs208290	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs208293	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs208294	0.81[ASN][1000 genomes]
rs2263271	0.92[ASN][1000 genomes]
rs2393799	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2686352	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs500930	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs501167	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs570984	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs575572	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs582315	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs591874	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs636719	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs656612	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs665794	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs671684	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs676262	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs685019	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7309886	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
4	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
5	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
6	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
7	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
8	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
9	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	chr12:121571400-121594000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:121571800-121623200	Weak transcription	Colonic Mucosa	Colon
3	chr12:121572200-121599800	Weak transcription	Colon Smooth Muscle	Colon
4	chr12:121572600-121592600	Weak transcription	Liver	Liver
5	chr12:121572800-121601600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr12:121576600-121592400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr12:121577000-121593400	Weak transcription	Primary T cells from cord blood	blood
8	chr12:121578200-121592400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:121580400-121592000	Weak transcription	Ovary	ovary
10	chr12:121580400-121592400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr12:121582000-121594000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:121582200-121593200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr12:121583000-121592400	Weak transcription	Spleen	Spleen
14	chr12:121583000-121595200	Weak transcription	Adipose Nuclei	Adipose
15	chr12:121583000-121613200	Weak transcription	Primary B cells from cord blood	blood
16	chr12:121583000-121634600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr12:121583200-121592200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:121583200-121593600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr12:121583200-121593800	Weak transcription	Brain Anterior Caudate	brain
20	chr12:121583200-121594000	Weak transcription	Brain Angular Gyrus	brain
21	chr12:121583200-121594200	Weak transcription	Lung	lung
22	chr12:121583200-121595800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr12:121583600-121599600	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr12:121583800-121600400	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr12:121583800-121602000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr12:121583800-121603200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr12:121583800-121623600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr12:121583800-121634400	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr12:121584000-121592400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr12:121584000-121592600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr12:121584000-121595000	Weak transcription	Esophagus	oesophagus
32	chr12:121584600-121626600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:121586200-121587800	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr12:121586200-121623600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr12:121586600-121587600	Strong transcription	Brain Cingulate Gyrus	brain
36	chr12:121586600-121587800	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr12:121586800-121594200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:121587200-121592200	Weak transcription	Brain Substantia Nigra	brain
39	chr12:121587200-121592400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:121587200-121592400	Weak transcription	Brain Hippocampus Middle	brain

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