Variant report

Variant	rs12321362
Chromosome Location	chr12:105252969-105252970
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	chr12:105252367..105254848-chr12:105257753..105259443,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11112203	0.85[YRI][hapmap]
rs11112209	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11112212	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12296494	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12298260	1.00[ASW][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12314394	1.00[AFR][1000 genomes]
rs12315904	1.00[MEX][hapmap]
rs12321429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12322073	1.00[MEX][hapmap]
rs7358753	1.00[AFR][1000 genomes]
rs7961764	1.00[MEX][hapmap]
rs7962610	0.85[YRI][hapmap];1.00[AFR][1000 genomes]
rs7980785	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105220800-105260600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:105222000-105258400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr12:105222000-105258600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:105222200-105258800	Weak transcription	Pancreas	Pancrea
5	chr12:105229000-105259200	Weak transcription	Placenta	Placenta
6	chr12:105233200-105258600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr12:105236200-105258600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:105237400-105259000	Weak transcription	A549	lung
9	chr12:105238400-105257000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:105238400-105260400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr12:105238400-105280000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr12:105240600-105258800	Weak transcription	Aorta	Aorta
13	chr12:105243000-105255800	Weak transcription	Colonic Mucosa	Colon
14	chr12:105243800-105265800	Weak transcription	Fetal Stomach	stomach
15	chr12:105248000-105269000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr12:105248800-105259600	Strong transcription	Liver	Liver
17	chr12:105251400-105257000	Weak transcription	Left Ventricle	heart
18	chr12:105251800-105253200	Enhancers	Fetal Heart	heart
19	chr12:105252200-105253400	Enhancers	Hela-S3	cervix
20	chr12:105252200-105253400	Enhancers	NH-A	brain
21	chr12:105252200-105253600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:105252200-105259000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr12:105252400-105253400	Enhancers	Muscle Satellite Cultured Cells	--
24	chr12:105252400-105253400	Enhancers	HSMMtube	muscle
25	chr12:105252400-105253400	Enhancers	NHLF	lung
26	chr12:105252400-105253400	Enhancers	Osteobl	bone
27	chr12:105252400-105253800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr12:105252400-105254000	Enhancers	Brain Germinal Matrix	brain
29	chr12:105252600-105253000	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr12:105252600-105253400	Enhancers	NHDF-Ad	bronchial
31	chr12:105252800-105253200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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