Variant report

Variant	rs12230201
Chromosome Location	chr12:32183152-32183153
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10466761	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10466825	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10844094	0.84[EUR][1000 genomes]
rs10844098	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11051746	0.80[EUR][1000 genomes]
rs11051751	0.81[ASN][1000 genomes]
rs12230226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12303358	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12309730	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12312421	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12426455	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1716940	0.85[EUR][1000 genomes]
rs2594031	0.85[EUR][1000 genomes]
rs2683481	0.83[EUR][1000 genomes]
rs2683484	0.85[EUR][1000 genomes]
rs56412847	0.85[EUR][1000 genomes]
rs58435743	0.80[EUR][1000 genomes]
rs58747732	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7297111	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7316376	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73304470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv558100	chr12:31866833-32185924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1045464	chr12:31869888-32183792	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv541447	chr12:31869888-32183792	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS 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 miRNA target site	41 gene(s)	inside rSNPs	diseases
5	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	esv3430326	chr12:32142734-32216569	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	esv3410287	chr12:32142734-32219420	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv976030	chr12:32153446-32307541	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv983498	chr12:32153446-32388092	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	esv2761731	chr12:32177270-32206870	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12230201	FAM60A	cis	parietal	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32166000-32186400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:32166400-32184200	Weak transcription	Ovary	ovary
3	chr12:32178200-32184200	Weak transcription	Fetal Lung	lung
4	chr12:32178400-32184200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:32179000-32184000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:32180200-32184000	Weak transcription	Fetal Thymus	thymus
7	chr12:32180200-32185400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr12:32180200-32196200	Weak transcription	Thymus	Thymus
9	chr12:32180400-32184000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr12:32180400-32184200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr12:32181000-32184200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr12:32181200-32184600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr12:32181200-32185600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr12:32181400-32183200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:32181400-32183400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr12:32181400-32184200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:32181400-32192600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr12:32181600-32183200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr12:32182000-32184000	Weak transcription	Primary B cells from peripheral blood	blood
20	chr12:32183000-32183600	Enhancers	Fetal Muscle Trunk	muscle
21	chr12:32183000-32183600	Enhancers	K562	blood
22	chr12:32183000-32187400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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