Variant report

Variant	rs11048331
Chromosome Location	chr12:26038327-26038328
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10431264	1.00[CHB][hapmap]
rs10505985	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10505986	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10842627	1.00[ASN][1000 genomes]
rs10842630	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10842632	0.86[AFR][1000 genomes]
rs10842633	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10842634	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10842635	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10842636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10842637	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11048289	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11048300	1.00[ASN][1000 genomes]
rs11048304	1.00[ASN][1000 genomes]
rs11048305	1.00[ASN][1000 genomes]
rs11048309	1.00[ASN][1000 genomes]
rs11048311	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11048312	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11048315	1.00[ASN][1000 genomes]
rs11048317	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11048319	1.00[ASN][1000 genomes]
rs11048323	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11048325	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11048326	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11048328	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11048329	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11048330	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11048332	0.92[AFR][1000 genomes]
rs11048333	0.96[YRI][hapmap];0.90[AFR][1000 genomes]
rs11048334	0.90[AFR][1000 genomes]
rs12368327	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12369495	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12816906	0.96[YRI][hapmap];0.90[AFR][1000 genomes]
rs12817333	0.96[YRI][hapmap];0.89[AFR][1000 genomes]
rs56245229	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58294161	1.00[ASN][1000 genomes]
rs7134325	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs73086135	1.00[ASN][1000 genomes]
rs73086136	1.00[ASN][1000 genomes]
rs73086141	1.00[ASN][1000 genomes]
rs73088111	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	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	nsv1035319	chr12:26020667-26097148	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26037200-26042400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:26037400-26038400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:26037400-26039400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:26037400-26039600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr12:26037600-26038400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr12:26037600-26039000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:26037800-26039000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
8	chr12:26037800-26039400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr12:26037800-26040800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:26038000-26038400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
11	chr12:26038000-26038800	Enhancers	H9 Cell Line	embryonic stem cell
12	chr12:26038000-26042400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr12:26038200-26038600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
14	chr12:26038200-26039000	Enhancers	HMEC	breast
15	chr12:26038200-26039200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:26038200-26039600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:26038200-26042600	Enhancers	HUES64 Cell Line	embryonic stem cell

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