Variant report

Variant	rs12579975
Chromosome Location	chr12:67011102-67011103
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10506488	0.86[ASN][1000 genomes]
rs10784559	0.92[ASN][1000 genomes]
rs10784561	0.84[ASN][1000 genomes]
rs10784562	0.84[ASN][1000 genomes]
rs10784563	0.84[ASN][1000 genomes]
rs10784564	0.84[ASN][1000 genomes]
rs10784565	0.84[ASN][1000 genomes]
rs10784566	0.84[ASN][1000 genomes]
rs10784567	0.84[ASN][1000 genomes]
rs10784568	0.84[ASN][1000 genomes]
rs10878459	0.83[ASN][1000 genomes]
rs10878460	0.83[ASN][1000 genomes]
rs10878461	0.93[ASN][1000 genomes]
rs10878462	0.95[ASN][1000 genomes]
rs10878463	0.93[ASN][1000 genomes]
rs10878470	0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs10878471	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs10878472	0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs10878473	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10878478	0.84[ASN][1000 genomes]
rs11176302	0.83[ASN][1000 genomes]
rs11176304	0.83[ASN][1000 genomes]
rs11176305	0.83[ASN][1000 genomes]
rs11176306	0.83[ASN][1000 genomes]
rs11176307	0.81[ASN][1000 genomes]
rs11176308	0.86[ASN][1000 genomes]
rs11176311	0.93[ASN][1000 genomes]
rs11176316	0.93[ASN][1000 genomes]
rs11176317	0.93[ASN][1000 genomes]
rs11176318	0.95[ASN][1000 genomes]
rs11176326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11176332	0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11176335	0.92[ASN][1000 genomes]
rs11176336	0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11176337	0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11176343	0.84[ASN][1000 genomes]
rs11176344	0.84[ASN][1000 genomes]
rs11176345	0.84[ASN][1000 genomes]
rs11176348	0.84[ASN][1000 genomes]
rs11176349	0.84[ASN][1000 genomes]
rs11176350	0.84[ASN][1000 genomes]
rs11176351	0.84[ASN][1000 genomes]
rs11176352	0.84[ASN][1000 genomes]
rs11176354	0.84[ASN][1000 genomes]
rs11176355	0.84[ASN][1000 genomes]
rs11614834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12228012	0.83[ASN][1000 genomes]
rs12230590	0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12231318	0.84[ASN][1000 genomes]
rs12366879	0.83[ASN][1000 genomes]
rs12578666	0.87[ASN][1000 genomes]
rs1493486	0.93[ASN][1000 genomes]
rs17181707	0.93[ASN][1000 genomes]
rs17779486	0.93[ASN][1000 genomes]
rs17779523	0.92[ASN][1000 genomes]
rs1948452	0.93[ASN][1000 genomes]
rs34639740	0.89[ASN][1000 genomes]
rs4290313	0.84[ASN][1000 genomes]
rs4303305	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4414309	0.84[ASN][1000 genomes]
rs4453317	0.93[ASN][1000 genomes]
rs4489824	0.84[ASN][1000 genomes]
rs4587801	0.84[ASN][1000 genomes]
rs4627157	0.93[ASN][1000 genomes]
rs4913406	0.90[ASN][1000 genomes]
rs55743225	0.90[ASN][1000 genomes]
rs57730465	0.84[ASN][1000 genomes]
rs59153213	0.93[ASN][1000 genomes]
rs61926083	0.81[ASN][1000 genomes]
rs61926084	0.83[ASN][1000 genomes]
rs61926085	0.81[ASN][1000 genomes]
rs61926087	0.93[ASN][1000 genomes]
rs61926094	0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs61926104	0.84[ASN][1000 genomes]
rs6581706	0.93[ASN][1000 genomes]
rs7309000	0.95[ASN][1000 genomes]
rs7311948	0.93[ASN][1000 genomes]
rs7312025	0.93[ASN][1000 genomes]
rs73127190	0.84[ASN][1000 genomes]
rs7315608	0.93[ASN][1000 genomes]
rs7315622	0.93[ASN][1000 genomes]
rs7315737	0.81[ASN][1000 genomes]
rs7485667	0.84[ASN][1000 genomes]
rs7953062	0.93[ASN][1000 genomes]
rs7953437	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7955693	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1040682	chr12:66750103-67328053	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv832449	chr12:66885819-67069953	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv3325978	chr12:66920993-67016708	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv469461	chr12:67007070-67038595	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv559208	chr12:67007070-67038595	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	esv3429559	chr12:67011069-67011580	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67009400-67015400	Enhancers	Dnd41	blood
2	chr12:67009600-67015400	Enhancers	GM12878-XiMat	blood
3	chr12:67010200-67011200	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr12:67010200-67011200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:67010600-67011200	Enhancers	NHEK	skin
6	chr12:67010600-67012600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:67010800-67014000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:67010800-67014000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:67010800-67014000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr12:67010800-67014000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:67010800-67020600	Weak transcription	Thymus	Thymus
12	chr12:67010800-67021000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:67011000-67012400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:67011000-67013000	Weak transcription	Primary B cells from peripheral blood	blood
15	chr12:67011000-67014000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:67011000-67014000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr12:67011000-67014000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr12:67011000-67014000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:67011000-67014000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:67011000-67014200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr12:67011000-67014200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr12:67011000-67016400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr12:67011000-67016600	Weak transcription	Primary B cells from cord blood	blood

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