Variant report

Variant	rs5762171
Chromosome Location	chr22:27864255-27864256
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1997930	0.95[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2009947	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4822882	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4822885	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4822886	0.83[ASN][1000 genomes]
rs5752552	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5752556	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5752558	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5752559	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5762160	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5762162	0.82[ASN][1000 genomes]
rs5762163	0.82[ASN][1000 genomes]
rs5762164	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5762166	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5762167	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5762168	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5762169	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5762170	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5762172	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5762173	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5762174	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6005455	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6005456	0.86[ASN][1000 genomes]
rs910402	0.82[EUR][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

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs5762171	CRYBA4	cis	cerebellum	SCAN
rs5762171	NF2	cis	parietal	SCAN
rs5762171	ZMAT5	cis	parietal	SCAN
rs5762171	ZNF280B	cis	parietal	SCAN
rs5762171	XBP1	cis	parietal	SCAN

Chromatin state (count:18 , 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	chr22:27859600-27869400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr22:27862000-27864800	Enhancers	Adipose Nuclei	Adipose
6	chr22:27862200-27864400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr22:27862200-27864600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr22:27862200-27864600	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr22:27862200-27865200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr22:27862200-27865800	Enhancers	Fetal Stomach	stomach
11	chr22:27862800-27864600	Enhancers	Fetal Muscle Trunk	muscle
12	chr22:27863200-27864400	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr22:27863200-27864800	Enhancers	Fetal Brain Male	brain
14	chr22:27863400-27864400	Enhancers	Fetal Lung	lung
15	chr22:27863600-27864400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr22:27863600-27864600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr22:27864200-27864400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr22:27864200-27864400	Enhancers	Fetal Brain Female	brain

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