Variant report

Variant	rs12830336
Chromosome Location	chr12:25305626-25305627
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10505960	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10771171	0.82[AFR][1000 genomes]
rs10771174	0.94[ASN][1000 genomes]
rs10771177	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10842473	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10842475	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10842478	0.82[AFR][1000 genomes]
rs10842490	0.83[AFR][1000 genomes]
rs10842491	0.83[AFR][1000 genomes]
rs10842492	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10842493	0.94[ASN][1000 genomes]
rs10842494	0.94[ASN][1000 genomes]
rs10842496	0.94[ASN][1000 genomes]
rs10842498	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10842499	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11047846	0.92[AFR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11047849	0.89[ASN][1000 genomes]
rs11047852	0.82[AFR][1000 genomes]
rs11047854	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11047855	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11047856	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11047865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11047868	0.92[ASN][1000 genomes]
rs11047870	0.92[ASN][1000 genomes]
rs1137196	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11513449	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12228638	0.82[AFR][1000 genomes]
rs12424685	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12425900	0.83[ASN][1000 genomes]
rs12581134	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12581706	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12810577	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12814442	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12818169	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12820019	0.80[AMR][1000 genomes]
rs12828225	0.83[ASN][1000 genomes]
rs12828609	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12830058	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17329025	0.81[AMR][1000 genomes]
rs2291365	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2352782	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2352784	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34898174	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4559767	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4589388	0.83[AFR][1000 genomes]
rs4963848	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4963850	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61020746	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6487456	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7297103	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7298636	0.92[ASN][1000 genomes]
rs7306769	0.92[ASN][1000 genomes]
rs7308865	0.91[ASN][1000 genomes]
rs7309124	0.85[ASN][1000 genomes]
rs7971062	0.83[AFR][1000 genomes]
rs7971288	0.83[AFR][1000 genomes]
rs9634100	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469169	chr12:24692383-25357680	Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv557775	chr12:24692383-25357680	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv932477	chr12:24705151-25346677	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1067577	chr12:24791283-25346677	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats 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	22 gene(s)	inside rSNPs	diseases
5	nsv529514	chr12:24791283-25346677	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv557796	chr12:25266203-25306458	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv515612	chr12:25272027-25341177	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv557797	chr12:25272027-25341177	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv898922	chr12:25274593-25408047	Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:25304000-25305800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr12:25304000-25307400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr12:25304400-25305800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr12:25304400-25305800	Enhancers	H9 Cell Line	embryonic stem cell
5	chr12:25304400-25305800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr12:25304400-25305800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr12:25304600-25305800	Enhancers	H1 Cell Line	embryonic stem cell
8	chr12:25304600-25305800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr12:25304600-25305800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr12:25304600-25315600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:25305000-25308000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:25305200-25307600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:25305200-25307800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:25305200-25307800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr12:25305200-25307800	Weak transcription	NHDF-Ad	bronchial
16	chr12:25305200-25308000	Weak transcription	A549	lung
17	chr12:25305200-25308200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:25305400-25307800	Weak transcription	NHEK	skin
19	chr12:25305400-25308000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr12:25305400-25308000	Weak transcription	Fetal Lung	lung
21	chr12:25305400-25308000	Weak transcription	Hela-S3	cervix
22	chr12:25305600-25305800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr12:25305600-25308000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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