Variant report

Variant	rs2291884
Chromosome Location	chr12:32737478-32737479
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10047581	0.92[CHB][hapmap]
rs10129039	0.83[ASN][1000 genomes]
rs10129043	0.92[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs10161053	0.83[ASN][1000 genomes]
rs10743799	1.00[CHB][hapmap];0.91[JPT][hapmap];0.99[ASN][1000 genomes]
rs10743800	0.93[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs10771964	0.91[EUR][1000 genomes]
rs10771965	1.00[ASN][1000 genomes]
rs10771966	1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[ASN][1000 genomes]
rs10771967	0.99[ASN][1000 genomes]
rs10844249	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10844250	1.00[CHB][hapmap];0.91[JPT][hapmap];0.99[ASN][1000 genomes]
rs10844251	0.92[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs11052090	1.00[CHB][hapmap];0.92[JPT][hapmap];0.99[ASN][1000 genomes]
rs11052094	0.96[CEU][hapmap];0.92[CHB][hapmap];0.81[JPT][hapmap];0.83[YRI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11052100	0.83[ASN][1000 genomes]
rs1472501	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1472502	1.00[CHB][hapmap];0.92[JPT][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1909513	0.93[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs1979824	1.00[CHB][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs1979826	1.00[CHB][hapmap];0.91[JPT][hapmap];0.99[ASN][1000 genomes]
rs2036267	0.93[CHB][hapmap];0.82[ASN][1000 genomes]
rs2291882	1.00[ASN][1000 genomes]
rs2291883	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2389102	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2389103	0.99[ASN][1000 genomes]
rs2389104	0.99[ASN][1000 genomes]
rs4931018	1.00[CHB][hapmap];0.92[JPT][hapmap];0.99[ASN][1000 genomes]
rs4931021	0.99[ASN][1000 genomes]
rs4931023	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4931026	0.83[ASN][1000 genomes]
rs4931027	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4931639	0.92[CEU][hapmap];0.92[CHB][hapmap];0.81[JPT][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4931640	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6488067	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6488068	1.00[CHB][hapmap];0.91[JPT][hapmap];0.80[YRI][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6488069	0.96[CEU][hapmap];0.92[CHB][hapmap];0.81[JPT][hapmap];0.83[YRI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6488070	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6488071	0.92[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs7136686	0.91[EUR][1000 genomes]
rs7300661	0.93[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs7308071	1.00[CHB][hapmap];0.92[JPT][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311621	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7315971	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7316616	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7954226	0.93[CHB][hapmap];0.83[ASN][1000 genomes]
rs7962088	0.99[ASN][1000 genomes]
rs7964734	0.96[CEU][hapmap];0.93[CHB][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7965993	0.92[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs7968781	0.83[ASN][1000 genomes]
rs7968790	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7971634	0.97[ASN][1000 genomes]
rs7977053	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7979016	0.92[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs904582	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9988998	0.94[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription 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	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32712600-32738600	Weak transcription	Primary B cells from cord blood	blood
2	chr12:32713000-32780400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr12:32713400-32796200	Weak transcription	Fetal Lung	lung
4	chr12:32713800-32738400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:32714000-32740600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr12:32715200-32753800	Weak transcription	Fetal Brain Female	brain
7	chr12:32715200-32760200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:32719800-32741400	Weak transcription	Spleen	Spleen
9	chr12:32720000-32764800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:32720200-32778400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr12:32721400-32743600	Weak transcription	Fetal Heart	heart
12	chr12:32722200-32738600	Weak transcription	Brain Anterior Caudate	brain
13	chr12:32722600-32739200	Weak transcription	NHLF	lung
14	chr12:32722600-32740800	Weak transcription	Brain Angular Gyrus	brain
15	chr12:32722600-32754400	Weak transcription	Colonic Mucosa	Colon
16	chr12:32722600-32757600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr12:32722600-32764800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr12:32722600-32764800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:32722600-32764800	Weak transcription	Psoas Muscle	Psoas
20	chr12:32722600-32779400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr12:32723600-32756600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr12:32725000-32739600	Weak transcription	Right Atrium	heart
23	chr12:32725200-32743800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr12:32725200-32778600	Weak transcription	Fetal Brain Male	brain
25	chr12:32726000-32741600	Weak transcription	Stomach Mucosa	stomach
26	chr12:32727600-32738000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr12:32728000-32738600	Strong transcription	Liver	Liver
28	chr12:32728200-32737800	Strong transcription	HSMM	muscle
29	chr12:32728400-32738600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:32728600-32757000	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr12:32728800-32738600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr12:32729000-32738600	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr12:32729000-32740000	Strong transcription	Duodenum Mucosa	Duodenum
34	chr12:32730600-32738600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr12:32731000-32739000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:32731800-32753400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr12:32732200-32738000	Strong transcription	Adipose Nuclei	Adipose
38	chr12:32732400-32741200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr12:32732400-32744600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:32732400-32756600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:32733200-32741400	Weak transcription	Brain Hippocampus Middle	brain
42	chr12:32733200-32764800	Weak transcription	Esophagus	oesophagus
43	chr12:32734800-32737600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:32735000-32738800	Strong transcription	Lung	lung
45	chr12:32735400-32737800	Weak transcription	Gastric	stomach
46	chr12:32735400-32738000	Strong transcription	Left Ventricle	heart
47	chr12:32735400-32738400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr12:32735400-32743600	Weak transcription	Stomach Smooth Muscle	stomach
49	chr12:32735400-32758400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr12:32735400-32765000	Weak transcription	Small Intestine	intestine

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