Variant report

Variant	rs5994473
Chromosome Location	chr22:32536205-32536206
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32529813-32538538..22:32740683-32750950	H1-hESC	embryonic stem cell:	embryo
2	22:32529813-32538538..22:32868055-32872511	K562	blood:
3	22:32529813-32538538..22:32878464-32886640	K562	blood:
4	22:32529813-32538538..22:32860159-32865649	GM12878	blood:
5	22:31836635-31847259..22:32529813-32538538	K562	blood:
6	22:32529813-32538538..22:32750950-32761732	K562	blood:
7	22:32012966-32043914..22:32529813-32538538	K562	blood:
8	22:32529813-32538538..22:32764253-32784733	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000241954	Chromatin interaction
ENSG00000232218	Chromatin interaction
ENSG00000230736	Chromatin interaction
ENSG00000184459	Chromatin interaction
ENSG00000271093	Chromatin interaction
ENSG00000205853	Chromatin interaction
ENSG00000128276	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000243519	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000100225	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1076905	1.00[JPT][hapmap]
rs1076906	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11089537	0.86[ASN][1000 genomes]
rs12159428	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12160839	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2006233	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2006253	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs28590200	1.00[ASN][1000 genomes]
rs55920759	0.86[ASN][1000 genomes]
rs5994471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994472	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998234	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998249	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998264	0.86[ASN][1000 genomes]
rs7287435	1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8138116	1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8142970	1.00[CEU][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9606897	1.00[JPT][hapmap]
rs9606899	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9606900	1.00[JPT][hapmap]
rs9606901	1.00[ASN][1000 genomes]
rs9606909	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9606910	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9606911	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9609397	1.00[JPT][hapmap]
rs9609413	1.00[JPT][hapmap]
rs9609421	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9609422	1.00[ASN][1000 genomes]
rs9609424	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9609434	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9609435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9609438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9609440	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9609445	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834177	chr22:32416679-32594663	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv948789	chr22:32462505-32764760	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv1065175	chr22:32467617-32761093	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	nsv544680	chr22:32467617-32761093	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	esv2830423	chr22:32477718-32767825	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
6	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
7	nsv834178	chr22:32490449-32677521	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
8	nsv962788	chr22:32528613-32537754	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32534400-32537000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr22:32534400-32537400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr22:32534400-32537400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr22:32534400-32538000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr22:32534400-32538400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr22:32534600-32537000	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr22:32534600-32537800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr22:32534600-32537800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr22:32534600-32537800	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr22:32534600-32540400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr22:32534600-32540800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr22:32534800-32538000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr22:32534800-32540400	Weak transcription	Primary B cells from peripheral blood	blood
14	chr22:32535000-32536600	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr22:32535000-32538000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr22:32535200-32536800	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr22:32535200-32537400	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr22:32535200-32537800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr22:32535400-32537800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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