Variant report

Variant	rs12316510
Chromosome Location	chr12:46947100-46947101
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46765496..46768188-chr12:46945105..46947805,2	K562	blood:
2	chr12:46775028..46778890-chr12:46944672..46947294,3	K562	blood:
3	chr12:46941171..46945201-chr12:46945236..46949422,7	K562	blood:
4	chr12:46775028..46778890-chr12:46944542..46947294,5	K562	blood:

Variant related genes	Relation type
ENSG00000257261	Chromatin interaction
ENSG00000134294	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11183535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11183558	1.00[AMR][1000 genomes]
rs11504525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11504526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12297833	1.00[AMR][1000 genomes]
rs12298909	1.00[AMR][1000 genomes]
rs12304575	1.00[AMR][1000 genomes]
rs12304806	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12304865	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12305342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12305992	1.00[AMR][1000 genomes]
rs12307390	1.00[AMR][1000 genomes]
rs12315001	1.00[AMR][1000 genomes]
rs12317112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12318411	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12320033	1.00[AMR][1000 genomes]
rs60258688	1.00[AMR][1000 genomes]
rs73282116	1.00[AMR][1000 genomes]
rs73293966	1.00[AMR][1000 genomes]
rs73293979	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	esv3429861	chr12:46762813-46988789	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	145 gene(s)	inside rSNPs	diseases
5	esv3402095	chr12:46937340-46983181	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46928400-46948600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr12:46940200-46950400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:46940200-46955000	Enhancers	HMEC	breast
4	chr12:46940600-46953600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:46940800-46947200	Enhancers	NHDF-Ad	bronchial
6	chr12:46941000-46949200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:46941400-46956200	Weak transcription	Primary B cells from cord blood	blood
8	chr12:46942600-46948200	Weak transcription	Adipose Nuclei	Adipose
9	chr12:46942800-46949400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr12:46943800-46948600	Weak transcription	Fetal Heart	heart
11	chr12:46943800-46948800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:46944000-46948600	Enhancers	NHEK	skin
13	chr12:46944200-46949400	Enhancers	Hela-S3	cervix
14	chr12:46944200-46949600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:46945400-46949200	Weak transcription	K562	blood
16	chr12:46945600-46947200	Enhancers	Placenta Amnion	Placenta Amnion
17	chr12:46946200-46948200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:46946400-46949400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr12:46946400-46949400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:46946400-46949400	Enhancers	NHLF	lung
21	chr12:46946600-46947600	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr12:46946600-46948800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:46946600-46949200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:46946600-46949600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:46946600-46949600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr12:46946800-46947400	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr12:46946800-46947400	Enhancers	Placenta	Placenta
28	chr12:46946800-46947400	Flanking Active TSS	A549	lung
29	chr12:46946800-46947600	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr12:46946800-46947600	Enhancers	HUVEC	blood vessel
31	chr12:46946800-46949200	Enhancers	Osteobl	bone
32	chr12:46947000-46947200	Enhancers	Left Ventricle	heart
33	chr12:46947000-46947400	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr12:46947000-46947400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:46947000-46947400	Enhancers	Fetal Muscle Leg	muscle
36	chr12:46947000-46947400	Enhancers	Psoas Muscle	Psoas
37	chr12:46947000-46947600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:46947000-46947600	Enhancers	NH-A	brain
39	chr12:46947000-46948000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr12:46947000-46949400	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr12:46947000-46949400	Enhancers	HSMM	muscle
42	chr12:46947000-46949400	Enhancers	HSMMtube	muscle
43	chr12:46947000-46950000	Enhancers	Skeletal Muscle Female	skeletal muscle

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