Variant report

Variant	rs12313024
Chromosome Location	chr12:25307858-25307859
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:25102240..25104571-chr12:25306808..25309937,3	K562	blood:

Variant related genes	Relation type
ENSG00000060982	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10743543	0.86[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10771172	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10842474	0.95[CEU][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10842479	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10842480	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10842481	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10842482	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10842484	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10842485	0.86[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10842486	0.86[EUR][1000 genomes]
rs11047853	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11047863	0.85[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11047864	0.85[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2200402	0.85[CEU][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2200408	0.86[CEU][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2220193	0.86[CEU][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2220195	0.85[CEU][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4246226	0.85[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4280085	0.86[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4291763	0.90[CEU][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4418900	0.86[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4427639	0.92[EUR][1000 genomes]
rs4460902	0.92[EUR][1000 genomes]
rs4491339	0.85[CEU][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4963854	0.86[CEU][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55746605	1.00[ASN][1000 genomes]
rs57579413	1.00[ASN][1000 genomes]
rs60110571	1.00[ASN][1000 genomes]
rs61391424	1.00[ASN][1000 genomes]
rs7132146	0.85[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7133919	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7298884	0.86[CEU][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7299464	0.85[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7303889	0.89[CEU][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7488357	0.92[EUR][1000 genomes]
rs7957575	0.85[CEU][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7959689	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7966074	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7966158	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7966255	0.85[CEU][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[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	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	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
7	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
8	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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:25304600-25315600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:25305000-25308000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:25305200-25308000	Weak transcription	A549	lung
4	chr12:25305200-25308200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:25305400-25308000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr12:25305400-25308000	Weak transcription	Fetal Lung	lung
7	chr12:25305400-25308000	Weak transcription	Hela-S3	cervix
8	chr12:25305600-25308000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:25305800-25308000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr12:25305800-25308000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr12:25307200-25311600	Enhancers	Primary B cells from cord blood	blood
12	chr12:25307200-25312200	Enhancers	Primary B cells from peripheral blood	blood
13	chr12:25307400-25308600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:25307600-25308400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:25307600-25308800	Flanking Active TSS	GM12878-XiMat	blood
16	chr12:25307800-25308000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr12:25307800-25308000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr12:25307800-25308000	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr12:25307800-25308200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr12:25307800-25308200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:25307800-25308400	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr12:25307800-25308400	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr12:25307800-25308400	Enhancers	Dnd41	blood
24	chr12:25307800-25308400	Enhancers	NHEK	skin
25	chr12:25307800-25308600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr12:25307800-25308600	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr12:25307800-25308600	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr12:25307800-25308600	Enhancers	NHDF-Ad	bronchial
29	chr12:25307800-25310000	Enhancers	Monocytes-CD14+_RO01746	blood

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