Variant report

Variant	rs10771253
Chromosome Location	chr12:26140404-26140405
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10771249	0.81[ASN][1000 genomes]
rs10771250	0.83[GIH][hapmap];0.94[JPT][hapmap];0.90[MEX][hapmap]
rs10771251	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10771252	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10771256	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10842641	0.82[ASN][1000 genomes]
rs10842642	0.81[ASN][1000 genomes]
rs10842645	0.82[ASN][1000 genomes]
rs10842646	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10842647	0.82[ASN][1000 genomes]
rs10842648	0.82[ASN][1000 genomes]
rs10842650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11048363	0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs11048364	0.82[ASN][1000 genomes]
rs11048365	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11048367	0.82[ASN][1000 genomes]
rs11048368	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11048385	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12811312	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1797944	0.81[CEU][hapmap]
rs1874349	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1994995	0.81[GIH][hapmap];0.89[MEX][hapmap]
rs2063620	1.00[CHB][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs2251618	0.80[MEX][hapmap]
rs6487522	0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs706529	0.81[CEU][hapmap]
rs706536	0.81[CEU][hapmap]
rs7964657	0.82[ASN][1000 genomes]
rs7971740	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7977148	0.93[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7979763	0.94[JPT][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758300	chr12:25992331-26161116	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	esv2759886	chr12:25992331-26161116	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv898931	chr12:26123345-26192936	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv522351	chr12:26127230-26149703	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26117600-26150000	Weak transcription	Hela-S3	cervix
2	chr12:26129800-26143000	Enhancers	Colon Smooth Muscle	Colon
3	chr12:26131000-26145400	Weak transcription	Lung	lung
4	chr12:26131000-26146000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr12:26131000-26146200	Weak transcription	HSMM	muscle
6	chr12:26132400-26141600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:26132400-26146800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr12:26133000-26144600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:26133000-26144600	Weak transcription	HMEC	breast
10	chr12:26133000-26144600	Weak transcription	NHEK	skin
11	chr12:26133000-26145200	Weak transcription	NH-A	brain
12	chr12:26133000-26145200	Weak transcription	Osteobl	bone
13	chr12:26134200-26148000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:26134400-26141600	Weak transcription	NHDF-Ad	bronchial
15	chr12:26134400-26145400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:26134400-26145400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:26134400-26147800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:26136000-26141400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:26136800-26142000	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr12:26137200-26143200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:26138400-26141200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:26138400-26141200	Weak transcription	Fetal Lung	lung
23	chr12:26138400-26146800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:26138800-26141200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:26138800-26141400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr12:26138800-26141600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr12:26138800-26145400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr12:26139200-26145200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr12:26139200-26147400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr12:26139400-26141400	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr12:26139400-26141600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr12:26139400-26141600	Weak transcription	Brain Hippocampus Middle	brain
33	chr12:26139400-26141600	Weak transcription	Fetal Stomach	stomach
34	chr12:26139400-26143800	Weak transcription	Brain Anterior Caudate	brain
35	chr12:26139400-26146000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:26139400-26150600	Weak transcription	Brain Angular Gyrus	brain
37	chr12:26139600-26141200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr12:26139600-26141400	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr12:26139600-26141600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr12:26139600-26141600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr12:26139600-26144400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:26139600-26144400	Weak transcription	Left Ventricle	heart
43	chr12:26139600-26145800	Weak transcription	Brain Substantia Nigra	brain
44	chr12:26139600-26160000	Weak transcription	Pancreas	Pancrea
45	chr12:26139800-26140600	Enhancers	Stomach Smooth Muscle	stomach
46	chr12:26139800-26141200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr12:26139800-26141200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr12:26139800-26141600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr12:26139800-26141600	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr12:26139800-26141600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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