Variant report

Variant	rs16990363
Chromosome Location	chr22:32774075-32774076
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:31829733-31836635..22:32764253-32784733	K562	blood:
2	22:31936958-31958600..22:32764253-32784733	K562	blood:
3	22:32529813-32538538..22:32764253-32784733	H1-hESC	embryonic stem cell:	embryo
4	22:32513817-32522138..22:32764253-32784733	H1-hESC	embryonic stem cell:	embryo
5	22:32360288-32405313..22:32764253-32784733	K562	blood:

Variant related genes	Relation type
ENSG00000214093	Chromatin interaction
ENSG00000239674	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000232707	Chromatin interaction
ENSG00000230866	Chromatin interaction
ENSG00000234479	Chromatin interaction
ENSG00000240647	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs13110	1.00[AMR][1000 genomes]
rs16990340	0.84[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2710361	1.00[TSI][hapmap]
rs35003092	1.00[AMR][1000 genomes]
rs41520848	1.00[EUR][1000 genomes]
rs55696448	1.00[EUR][1000 genomes]
rs55726161	1.00[AMR][1000 genomes]
rs56088001	1.00[AMR][1000 genomes]
rs56164445	1.00[AMR][1000 genomes]
rs56241612	1.00[AMR][1000 genomes]
rs56257111	1.00[AMR][1000 genomes]
rs56273567	1.00[AMR][1000 genomes]
rs56300131	1.00[AMR][1000 genomes]
rs56304230	1.00[AMR][1000 genomes]
rs56393759	1.00[AMR][1000 genomes]
rs56835150	1.00[AMR][1000 genomes]
rs56870764	1.00[AMR][1000 genomes]
rs56946080	1.00[AMR][1000 genomes]
rs57040236	1.00[AMR][1000 genomes]
rs57377298	1.00[EUR][1000 genomes]
rs57467712	1.00[AMR][1000 genomes]
rs57526188	1.00[AMR][1000 genomes]
rs57670657	1.00[AMR][1000 genomes]
rs58329990	1.00[AMR][1000 genomes]
rs58747874	1.00[AMR][1000 genomes]
rs58917959	1.00[AMR][1000 genomes]
rs59540071	1.00[AMR][1000 genomes]
rs59540535	1.00[AMR][1000 genomes]
rs59570290	1.00[AMR][1000 genomes]
rs59814970	1.00[AMR][1000 genomes]
rs5998365	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs5998441	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60284718	1.00[AMR][1000 genomes]
rs60614590	1.00[AMR][1000 genomes]
rs61036457	1.00[AMR][1000 genomes]
rs61060987	1.00[AMR][1000 genomes]
rs61102923	1.00[EUR][1000 genomes]
rs61702109	1.00[AMR][1000 genomes]
rs7284713	1.00[AMR][1000 genomes]
rs7284743	1.00[AMR][1000 genomes]
rs7285750	1.00[AMR][1000 genomes]
rs7288743	0.86[ASW][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs7289526	0.86[ASW][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs7289656	0.86[ASW][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs7290295	0.86[ASW][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs7293064	1.00[AMR][1000 genomes]
rs73395092	1.00[EUR][1000 genomes]
rs73881640	1.00[EUR][1000 genomes]
rs73881645	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73881659	1.00[AMR][1000 genomes]
rs73881660	1.00[AMR][1000 genomes]
rs73881661	1.00[AMR][1000 genomes]
rs73881662	1.00[AMR][1000 genomes]
rs73881663	1.00[AMR][1000 genomes]
rs73881664	1.00[AMR][1000 genomes]
rs73881665	1.00[AMR][1000 genomes]
rs73881666	1.00[AMR][1000 genomes]
rs73881668	1.00[AMR][1000 genomes]
rs73881669	1.00[AMR][1000 genomes]
rs73881670	1.00[AMR][1000 genomes]
rs73881671	1.00[AMR][1000 genomes]
rs73881673	1.00[AMR][1000 genomes]
rs73881674	1.00[AMR][1000 genomes]
rs73881675	1.00[AMR][1000 genomes]
rs73881676	1.00[AMR][1000 genomes]
rs73881677	1.00[AMR][1000 genomes]
rs73881678	1.00[AMR][1000 genomes]
rs73881679	1.00[AMR][1000 genomes]
rs73881680	1.00[AMR][1000 genomes]
rs73881682	1.00[AMR][1000 genomes]
rs73881683	1.00[AMR][1000 genomes]
rs73881684	1.00[AMR][1000 genomes]
rs73881685	1.00[AMR][1000 genomes]
rs73881686	1.00[AMR][1000 genomes]
rs73881688	1.00[AMR][1000 genomes]
rs73881689	1.00[AMR][1000 genomes]
rs73881690	1.00[AMR][1000 genomes]
rs73881691	1.00[AMR][1000 genomes]
rs73881694	1.00[AMR][1000 genomes]
rs73881695	1.00[AMR][1000 genomes]
rs73881696	1.00[AMR][1000 genomes]
rs73881697	1.00[AMR][1000 genomes]
rs73881701	1.00[AMR][1000 genomes]
rs73881702	1.00[AMR][1000 genomes]
rs8139487	1.00[AMR][1000 genomes]
rs8139992	1.00[AMR][1000 genomes]
rs8140227	1.00[EUR][1000 genomes]
rs8140647	1.00[EUR][1000 genomes]
rs8141096	1.00[AMR][1000 genomes]
rs8141141	1.00[AMR][1000 genomes]
rs9680823	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422247	chr22:32486448-32788258	Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	nsv459874	chr22:32574274-32866934	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	nsv588895	chr22:32574274-32866934	Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv1064737	chr22:32603912-32829725	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32755800-32781600	Weak transcription	Ovary	ovary
2	chr22:32762800-32788200	Weak transcription	Psoas Muscle	Psoas
3	chr22:32772000-32781200	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr22:32772200-32781400	Weak transcription	Fetal Intestine Small	intestine
5	chr22:32772600-32781400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr22:32772800-32780800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr22:32772800-32781400	Weak transcription	Brain Germinal Matrix	brain
8	chr22:32772800-32781600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr22:32773200-32781400	Weak transcription	Gastric	stomach
10	chr22:32773200-32781400	Weak transcription	Lung	lung
11	chr22:32773600-32775000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr22:32773800-32781600	Weak transcription	Esophagus	oesophagus
13	chr22:32774000-32774400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr22:32774000-32774600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr22:32774000-32782000	Weak transcription	Primary B cells from cord blood	blood

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