Variant report

Variant	rs12168708
Chromosome Location	chr22:28740762-28740763
allele	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	chr22:28737276..28738868-chr22:28739288..28741604,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10212083	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10483151	0.82[EUR][1000 genomes]
rs12165708	1.00[ASN][1000 genomes]
rs12166253	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12167735	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12168652	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12168851	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134194	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs134197	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs134488	0.81[AMR][1000 genomes]
rs17413461	0.82[EUR][1000 genomes]
rs17487463	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2345717	0.81[AMR][1000 genomes]
rs28579300	0.81[AMR][1000 genomes]
rs55738739	0.84[EUR][1000 genomes]
rs55846737	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56391942	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59262169	0.82[EUR][1000 genomes]
rs60042154	0.84[EUR][1000 genomes]
rs6519753	0.82[EUR][1000 genomes]
rs7291268	0.82[EUR][1000 genomes]
rs73430123	0.82[EUR][1000 genomes]
rs73437900	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73439811	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs738200	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs738627	0.84[EUR][1000 genomes]
rs73882704	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs73882705	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs73882709	0.87[AMR][1000 genomes]
rs73882720	0.82[AFR][1000 genomes]
rs73882721	0.82[AFR][1000 genomes]
rs8137808	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9306457	0.82[EUR][1000 genomes]
rs9620778	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9620779	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9620797	0.82[EUR][1000 genomes]
rs9620799	0.82[EUR][1000 genomes]
rs9620803	0.82[EUR][1000 genomes]
rs9620804	0.82[EUR][1000 genomes]
rs9625425	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs9625427	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs9625433	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9625437	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9625440	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9625441	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9625447	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9625467	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625475	0.85[EUR][1000 genomes]
rs9625477	0.84[EUR][1000 genomes]
rs9625478	0.82[EUR][1000 genomes]
rs9625481	0.84[EUR][1000 genomes]
rs9625484	0.82[EUR][1000 genomes]
rs9625487	0.81[EUR][1000 genomes]
rs9625492	0.81[EUR][1000 genomes]
rs988893	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv459866	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv588879	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28736000-28744200	Weak transcription	Lung	lung
2	chr22:28736200-28740800	Weak transcription	Fetal Kidney	kidney
3	chr22:28736400-28746600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr22:28737200-28742200	Weak transcription	Fetal Brain Female	brain
5	chr22:28737200-28742600	Weak transcription	Dnd41	blood
6	chr22:28737200-28747200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr22:28737400-28744000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr22:28737600-28740800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr22:28737600-28740800	Weak transcription	Adipose Nuclei	Adipose
10	chr22:28737600-28741000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr22:28737600-28741400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr22:28737600-28741400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr22:28737800-28744800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr22:28738000-28751600	Weak transcription	Left Ventricle	heart
15	chr22:28738800-28744200	Weak transcription	Fetal Brain Male	brain
16	chr22:28739400-28741400	Weak transcription	Psoas Muscle	Psoas
17	chr22:28739600-28741600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr22:28739600-28741800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr22:28739600-28741800	Enhancers	HMEC	breast
20	chr22:28739600-28741800	Enhancers	NHEK	skin
21	chr22:28740000-28740800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr22:28740200-28740800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr22:28740200-28740800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr22:28740200-28741400	Enhancers	Brain Hippocampus Middle	brain
25	chr22:28740200-28741600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr22:28740200-28742400	Enhancers	Colon Smooth Muscle	Colon
27	chr22:28740200-28743000	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr22:28740400-28741600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr22:28740600-28740800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr22:28740600-28740800	Enhancers	Fetal Stomach	stomach
31	chr22:28740600-28740800	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr22:28740600-28740800	Enhancers	NHDF-Ad	bronchial
33	chr22:28740600-28741600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr22:28740600-28741800	Enhancers	Osteobl	bone

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