Variant report

Variant	rs7978277
Chromosome Location	chr12:31530887-31530888
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10771826	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10771830	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10771831	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10771833	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10771834	0.84[EUR][1000 genomes]
rs10771835	0.87[EUR][1000 genomes]
rs10771837	0.84[EUR][1000 genomes]
rs10843937	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10843938	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10843939	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10843953	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes]
rs10843954	0.84[EUR][1000 genomes]
rs10843957	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs10843962	0.84[EUR][1000 genomes]
rs11051414	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11051417	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11051427	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11051428	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11051440	0.84[EUR][1000 genomes]
rs11051446	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs11051454	0.81[EUR][1000 genomes]
rs11051461	0.81[EUR][1000 genomes]
rs11051467	0.96[CEU][hapmap]
rs12371432	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs1268747	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs1560634	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1879385	0.81[EUR][1000 genomes]
rs2163730	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2351921	1.00[CEU][hapmap];0.83[YRI][hapmap];0.84[EUR][1000 genomes]
rs2351922	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs2351923	0.84[EUR][1000 genomes]
rs2568901	0.81[CHB][hapmap]
rs2892638	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34498192	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3741877	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3741878	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs3803114	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs3887250	0.92[CEU][hapmap];0.84[CHB][hapmap]
rs3898712	0.84[EUR][1000 genomes]
rs3926419	0.81[EUR][1000 genomes]
rs4930979	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs4931499	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4931511	0.84[EUR][1000 genomes]
rs4931512	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.84[EUR][1000 genomes]
rs4931513	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[EUR][1000 genomes]
rs61097018	0.84[EUR][1000 genomes]
rs61918606	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61930275	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6487990	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6487991	0.84[EUR][1000 genomes]
rs7132688	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs7136559	0.84[EUR][1000 genomes]
rs7297507	0.81[EUR][1000 genomes]
rs7297997	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7299425	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7300106	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7301326	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7302695	0.81[EUR][1000 genomes]
rs73080572	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7308202	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7313889	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7314404	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7314739	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7960380	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs7963764	0.83[EUR][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	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv2751046	chr12:31174233-31684733	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv832364	chr12:31467990-31648144	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31523400-31537600	Weak transcription	Fetal Brain Female	brain
2	chr12:31523800-31538200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:31524400-31536600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr12:31524400-31538200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr12:31524400-31540200	Weak transcription	Brain Hippocampus Middle	brain
6	chr12:31524600-31535000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:31524600-31535000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:31524800-31537200	Weak transcription	Fetal Intestine Large	intestine
9	chr12:31524800-31538000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:31526800-31534800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:31530800-31531000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr12:31530800-31538000	Weak transcription	Liver	Liver
13	chr12:31530800-31541400	Weak transcription	Brain Cingulate Gyrus	brain

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