Variant report

Variant	rs12821504
Chromosome Location	chr12:50695831-50695832
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:50616040..50619378-chr12:50692755..50696758,3	K562	blood:
2	chr12:50615125..50617540-chr12:50694160..50696822,2	K562	blood:

Variant related genes	Relation type
ENSG00000050405	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10783344	0.80[EUR][1000 genomes]
rs10783349	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10783350	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10876014	0.86[EUR][1000 genomes]
rs10876015	0.86[EUR][1000 genomes]
rs10876016	0.86[EUR][1000 genomes]
rs10876017	0.85[EUR][1000 genomes]
rs10876018	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11169339	0.81[EUR][1000 genomes]
rs11169345	0.86[EUR][1000 genomes]
rs11169347	0.86[EUR][1000 genomes]
rs11169348	0.86[EUR][1000 genomes]
rs11169349	0.86[EUR][1000 genomes]
rs11169350	0.86[EUR][1000 genomes]
rs11169351	0.86[EUR][1000 genomes]
rs11169357	0.85[EUR][1000 genomes]
rs11169359	0.85[EUR][1000 genomes]
rs11169360	0.86[EUR][1000 genomes]
rs11169367	0.83[EUR][1000 genomes]
rs11169369	0.86[EUR][1000 genomes]
rs11169370	0.86[EUR][1000 genomes]
rs11169371	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11169373	0.84[EUR][1000 genomes]
rs11169374	0.84[EUR][1000 genomes]
rs11169375	0.83[EUR][1000 genomes]
rs11169376	0.82[EUR][1000 genomes]
rs11169377	0.82[EUR][1000 genomes]
rs11169379	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169386	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11836169	0.83[EUR][1000 genomes]
rs11838347	0.86[EUR][1000 genomes]
rs12821454	0.86[EUR][1000 genomes]
rs12823506	0.81[EUR][1000 genomes]
rs12832940	0.86[EUR][1000 genomes]
rs1972611	0.81[EUR][1000 genomes]
rs2111988	0.86[EUR][1000 genomes]
rs28628775	0.85[EUR][1000 genomes]
rs34039674	0.81[EUR][1000 genomes]
rs34614542	0.82[EUR][1000 genomes]
rs34849043	0.83[EUR][1000 genomes]
rs34858415	0.82[EUR][1000 genomes]
rs35209607	0.84[EUR][1000 genomes]
rs35535298	0.85[EUR][1000 genomes]
rs35768991	0.81[EUR][1000 genomes]
rs35878271	0.81[EUR][1000 genomes]
rs35933908	0.86[EUR][1000 genomes]
rs4768872	0.82[EUR][1000 genomes]
rs4768891	0.81[AFR][1000 genomes]
rs4768949	0.81[EUR][1000 genomes]
rs4768951	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6580735	0.86[EUR][1000 genomes]
rs6580736	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6580737	0.86[EUR][1000 genomes]
rs6580738	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6580739	0.82[EUR][1000 genomes]
rs6580740	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6580741	0.81[EUR][1000 genomes]
rs67138019	0.84[EUR][1000 genomes]
rs7132551	0.81[EUR][1000 genomes]
rs7135777	0.86[EUR][1000 genomes]
rs7304445	0.85[EUR][1000 genomes]
rs7305995	0.86[EUR][1000 genomes]
rs7310541	0.83[EUR][1000 genomes]
rs7311378	0.86[EUR][1000 genomes]
rs7311491	0.86[EUR][1000 genomes]
rs7311973	0.86[EUR][1000 genomes]
rs7315955	0.81[EUR][1000 genomes]
rs7399343	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7485486	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7486747	0.81[EUR][1000 genomes]
rs7488682	0.86[EUR][1000 genomes]
rs7489214	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7953953	0.80[EUR][1000 genomes]
rs7956468	0.86[EUR][1000 genomes]
rs7974648	0.81[EUR][1000 genomes]
rs7980911	0.86[EUR][1000 genomes]
rs9705460	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	nsv899075	chr12:50594947-50835060	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
3	esv2761738	chr12:50627292-50836427	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
4	nsv1035796	chr12:50634342-50784312	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	nsv702	chr12:50670870-50715934	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv1053667	chr12:50679039-50801752	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
7	nsv1054480	chr12:50691039-50859665	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12821504	CERS5	cis	Nerve Tibial	GTEx
rs12821504	DIP2B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50678000-50699800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:50678400-50696000	Weak transcription	HSMM	muscle
3	chr12:50678400-50708600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:50678600-50698800	Weak transcription	Pancreas	Pancrea
5	chr12:50679000-50696200	Weak transcription	Osteobl	bone
6	chr12:50679800-50708600	Weak transcription	Liver	Liver
7	chr12:50686000-50699000	Weak transcription	Primary T cells from cord blood	blood
8	chr12:50686800-50696000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:50687000-50696600	Weak transcription	K562	blood
10	chr12:50687000-50705600	Weak transcription	HSMMtube	muscle
11	chr12:50690000-50711800	Weak transcription	Ovary	ovary
12	chr12:50691200-50696000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:50691200-50696600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:50691200-50696600	Weak transcription	A549	lung
15	chr12:50691800-50703400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr12:50692000-50696800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr12:50692000-50719800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr12:50692400-50708800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr12:50693600-50722800	Weak transcription	Fetal Intestine Small	intestine

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