Variant report

Variant	rs12159979
Chromosome Location	chr22:30839457-30839458
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30781821..30783349-chr22:30839370..30842109,2	K562	blood:
2	chr22:30685629..30687266-chr22:30839148..30841021,2	K562	blood:
3	chr22:30817233..30818848-chr22:30838471..30840689,2	K562	blood:
4	chr22:30818867..30823842-chr22:30836918..30842867,11	K562	blood:
5	chr22:30765777..30768205-chr22:30839224..30841289,2	K562	blood:
6	chr22:30783511..30785819-chr22:30839208..30841180,2	K562	blood:
7	chr22:30837994..30839939-chr22:30986496..30988737,2	K562	blood:

Variant related genes	Relation type
ENSG00000272689	Chromatin interaction
ENSG00000242114	Chromatin interaction
ENSG00000099999	Chromatin interaction
ENSG00000100029	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10427765	1.00[AMR][1000 genomes]
rs12158119	1.00[AMR][1000 genomes]
rs16988763	1.00[AMR][1000 genomes]
rs34765878	1.00[AMR][1000 genomes]
rs5997635	1.00[AMR][1000 genomes]
rs5997644	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5997649	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394240	1.00[AMR][1000 genomes]
rs73881452	1.00[AMR][1000 genomes]
rs73881454	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	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv459870	chr22:30836313-30868418	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv588886	chr22:30836313-30868418	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30831800-30841000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr22:30832000-30841600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr22:30832000-30850000	Weak transcription	Right Atrium	heart
4	chr22:30832200-30852400	Weak transcription	Spleen	Spleen
5	chr22:30836400-30840600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr22:30837200-30839600	Enhancers	K562	blood
7	chr22:30837400-30841200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr22:30838000-30839800	Enhancers	Dnd41	blood
9	chr22:30838400-30839800	Weak transcription	Ovary	ovary
10	chr22:30838400-30841000	Weak transcription	NH-A	brain
11	chr22:30839000-30841000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr22:30839000-30841000	Enhancers	Hela-S3	cervix
13	chr22:30839200-30839600	Enhancers	Esophagus	oesophagus
14	chr22:30839400-30840800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr22:30839400-30840800	Weak transcription	GM12878-XiMat	blood
16	chr22:30839400-30840800	Weak transcription	HMEC	breast
17	chr22:30839400-30840800	Weak transcription	HUVEC	blood vessel
18	chr22:30839400-30841000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr22:30839400-30841000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr22:30839400-30841000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr22:30839400-30841000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr22:30839400-30841000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr22:30839400-30841000	Weak transcription	HSMM	muscle
24	chr22:30839400-30841000	Weak transcription	NHDF-Ad	bronchial
25	chr22:30839400-30841000	Weak transcription	NHEK	skin
26	chr22:30839400-30841000	Weak transcription	NHLF	lung
27	chr22:30839400-30841000	Weak transcription	Osteobl	bone
28	chr22:30839400-30841200	Weak transcription	Left Ventricle	heart
29	chr22:30839400-30841400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr22:30839400-30841600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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