Variant report

Variant	rs9608612
Chromosome Location	chr22:27863242-27863243
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1884133	0.92[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62235399	0.84[AMR][1000 genomes]
rs62235442	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs736950	1.00[YRI][hapmap]
rs738573	0.93[ASN][1000 genomes]
rs9613450	0.92[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9613451	0.96[ASN][1000 genomes]
rs9625236	0.92[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9625239	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3413125	chr22:27404463-28121577	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv459860	chr22:27527005-28181436	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv588872	chr22:27527005-28181436	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv834167	chr22:27758395-27910985	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv459864	chr22:27760086-27865344	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv588875	chr22:27760086-27865344	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv471192	chr22:27821656-27865344	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv459865	chr22:27852183-27867567	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv588876	chr22:27852183-27867567	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv834168	chr22:27859692-28061869	Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27858400-27867800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr22:27858400-27869600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr22:27859000-27869000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr22:27859400-27864200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr22:27859400-27864200	Weak transcription	Fetal Brain Female	brain
6	chr22:27859600-27869400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr22:27862000-27863800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr22:27862000-27864800	Enhancers	Adipose Nuclei	Adipose
9	chr22:27862200-27864400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr22:27862200-27864600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr22:27862200-27864600	Bivalent Enhancer	Fetal Muscle Leg	muscle
12	chr22:27862200-27865200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr22:27862200-27865800	Enhancers	Fetal Stomach	stomach
14	chr22:27862400-27863400	Enhancers	Colonic Mucosa	Colon
15	chr22:27862400-27863600	Enhancers	Fetal Intestine Large	intestine
16	chr22:27862400-27863600	Enhancers	Fetal Intestine Small	intestine
17	chr22:27862600-27863600	Enhancers	NHDF-Ad	bronchial
18	chr22:27862800-27864600	Enhancers	Fetal Muscle Trunk	muscle
19	chr22:27863200-27863600	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr22:27863200-27864400	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr22:27863200-27864800	Enhancers	Fetal Brain Male	brain

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