Variant report

Variant	rs5997367
Chromosome Location	chr22:28842447-28842448
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12157518	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12159502	1.00[CEU][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16986290	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16986377	1.00[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986462	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986548	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35731009	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58427200	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997355	0.85[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs5997363	1.00[JPT][hapmap];0.82[YRI][hapmap];0.95[ASN][1000 genomes]
rs5997365	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997369	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997372	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6005733	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6005735	0.90[ASN][1000 genomes]
rs6005751	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6005757	0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs6005758	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6005765	0.88[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6005779	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6005780	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6005783	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6005789	0.91[AFR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6005793	0.80[AFR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6005829	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6005833	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6005834	0.81[ASN][1000 genomes]
rs73427747	0.90[ASN][1000 genomes]
rs73428082	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73428096	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73430108	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7510988	0.90[ASN][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	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	nsv1067544	chr22:28755418-29055246	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv544674	chr22:28755418-29055246	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
4	nsv588880	chr22:28807277-29001789	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
5	nsv916473	chr22:28837041-29215603	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28839600-28844600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr22:28839600-28844600	Weak transcription	K562	blood
3	chr22:28839800-28843200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr22:28839800-28843600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr22:28839800-28844200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr22:28839800-28844600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr22:28839800-28844600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr22:28839800-28861200	Weak transcription	Ovary	ovary
9	chr22:28840000-28844600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr22:28840000-28844600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr22:28840000-28844600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr22:28840000-28844600	Weak transcription	Fetal Kidney	kidney
13	chr22:28840000-28844800	Weak transcription	HUVEC	blood vessel
14	chr22:28840000-28845200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr22:28840000-28847000	Weak transcription	Fetal Lung	lung
16	chr22:28840000-28849600	Weak transcription	Fetal Brain Male	brain
17	chr22:28840400-28843000	Weak transcription	Fetal Brain Female	brain
18	chr22:28840400-28844200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr22:28840400-28844600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr22:28841200-28845800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr22:28842200-28842800	Enhancers	Duodenum Mucosa	Duodenum
22	chr22:28842400-28842600	Enhancers	Psoas Muscle	Psoas
23	chr22:28842400-28843400	Enhancers	Fetal Intestine Large	intestine

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