Variant report

Variant	rs12314391
Chromosome Location	chr12:50789841-50789842
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:50787607..50792856-chr12:50793045..50797935,10	K562	blood:

Variant related genes	Relation type
ENSG00000161813	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10083076	1.00[AMR][1000 genomes]
rs11169403	1.00[AMR][1000 genomes]
rs12297832	1.00[AMR][1000 genomes]
rs12298057	1.00[AMR][1000 genomes]
rs12302910	1.00[AMR][1000 genomes]
rs12308132	1.00[AMR][1000 genomes]
rs12308735	1.00[AMR][1000 genomes]
rs12312142	1.00[AMR][1000 genomes]
rs12312218	1.00[AMR][1000 genomes]
rs12316153	1.00[AMR][1000 genomes]
rs12317780	1.00[AMR][1000 genomes]
rs12318245	1.00[AMR][1000 genomes]
rs7298085	1.00[AMR][1000 genomes]
rs7305783	1.00[AMR][1000 genomes]
rs9651998	1.00[AMR][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	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
2	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
3	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
4	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
5	nsv1041563	chr12:50705715-50861699	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv1049665	chr12:50705715-50871542	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv899076	chr12:50770291-50869589	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50781800-50794000	Weak transcription	Fetal Kidney	kidney
2	chr12:50782000-50790400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:50782000-50794000	Weak transcription	Fetal Heart	heart
4	chr12:50782400-50790400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:50782800-50794200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:50784800-50790000	Weak transcription	NH-A	brain
7	chr12:50784800-50790400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:50785000-50790000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:50785000-50790000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr12:50785000-50790400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:50785000-50790400	Weak transcription	HMEC	breast
12	chr12:50785000-50794000	Weak transcription	HUVEC	blood vessel
13	chr12:50785600-50790200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:50788000-50791000	Enhancers	NHDF-Ad	bronchial
15	chr12:50788000-50791400	Enhancers	HepG2	liver
16	chr12:50788600-50790200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:50788600-50790400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:50789200-50790000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:50789400-50790600	Weak transcription	Placenta	Placenta
20	chr12:50789600-50790200	Enhancers	A549	lung
21	chr12:50789600-50791000	Enhancers	Osteobl	bone
22	chr12:50789600-50791200	Enhancers	Hela-S3	cervix
23	chr12:50789800-50790400	Weak transcription	NHEK	skin
24	chr12:50789800-50790800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:50789800-50791400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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