Variant report

Variant	rs2271150
Chromosome Location	chr12:51846261-51846262
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17125850	1.00[ASW][hapmap];0.82[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17125880	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2067764	1.00[GIH][hapmap]
rs2279951	0.82[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2292215	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2292216	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs34555885	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs57024323	0.85[ASN][1000 genomes]
rs57960673	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs60368956	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs61736806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7136085	1.00[GIH][hapmap]
rs7294353	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7301925	0.92[ASN][1000 genomes]
rs7958793	0.83[ASN][1000 genomes]
rs7959067	0.83[ASN][1000 genomes]
rs7971145	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7974113	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832408	chr12:51696605-51871339	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1038285	chr12:51762953-51916723	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv519438	chr12:51837789-51900105	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51819000-51860800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr12:51827000-51851000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:51827400-51866800	Weak transcription	Primary B cells from peripheral blood	blood
4	chr12:51831600-51847200	Weak transcription	Dnd41	blood
5	chr12:51835800-51868800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:51836200-51868600	Weak transcription	NHLF	lung
7	chr12:51836600-51850600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:51836600-51851800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr12:51836600-51854200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:51836800-51847200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr12:51839200-51876200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr12:51839600-51849000	Weak transcription	Fetal Intestine Small	intestine
13	chr12:51840200-51867200	Weak transcription	GM12878-XiMat	blood
14	chr12:51842600-51857400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:51842800-51849200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:51842800-51865200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:51843000-51849400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr12:51843400-51849000	Weak transcription	A549	lung
19	chr12:51843400-51876400	Weak transcription	Fetal Stomach	stomach
20	chr12:51843400-51881800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:51843600-51849000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:51843600-51849600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr12:51843600-51854000	Weak transcription	Stomach Mucosa	stomach
24	chr12:51843600-51865800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:51843800-51865000	Weak transcription	HUVEC	blood vessel
26	chr12:51844400-51846800	Strong transcription	Brain Germinal Matrix	brain
27	chr12:51844400-51876600	Weak transcription	NHDF-Ad	bronchial
28	chr12:51844600-51848200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr12:51844800-51846400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr12:51844800-51849200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:51844800-51876800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:51845000-51846600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr12:51845000-51867400	Weak transcription	Ovary	ovary
34	chr12:51845000-51870200	Weak transcription	Primary B cells from cord blood	blood
35	chr12:51845200-51847400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr12:51845600-51848000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:51845800-51846600	Strong transcription	Primary T cells from cord blood	blood
38	chr12:51845800-51846800	Strong transcription	Brain Anterior Caudate	brain
39	chr12:51845800-51847000	Strong transcription	Brain Hippocampus Middle	brain
40	chr12:51845800-51849200	Weak transcription	Fetal Intestine Large	intestine
41	chr12:51846000-51846400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr12:51846000-51846600	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr12:51846000-51846800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:51846000-51847600	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:51846000-51847800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr12:51846000-51847800	Strong transcription	Brain Angular Gyrus	brain
47	chr12:51846000-51848000	Strong transcription	Brain Inferior Temporal Lobe	brain
48	chr12:51846000-51848000	Strong transcription	Brain Substantia Nigra	brain
49	chr12:51846000-51848400	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr12:51846000-51848400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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