Variant report

Variant	rs12722514
Chromosome Location	chr10:6081406-6081407
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:6079422..6081935-chr10:6085039..6087592,2	K562	blood:
2	chr10:6081332..6082198-chr22:46646141..46646863,2	Hela-S3	cervix:
3	chr10:6076770..6078831-chr10:6080611..6082982,2	MCF-7	breast:
4	chr10:6080660..6082539-chr10:6112138..6114750,2	K562	blood:
5	chr10:6079612..6081921-chr10:6120076..6122604,2	K562	blood:

Variant related genes	Relation type
ENSG00000214015	Chromatin interaction
ENSG00000205643	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12722519	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12722526	0.87[EUR][1000 genomes]
rs12722589	1.00[CEU][hapmap]
rs12722590	1.00[CEU][hapmap]
rs41294919	0.83[AMR][1000 genomes]
rs41294929	0.83[AMR][1000 genomes]
rs41294931	0.83[AMR][1000 genomes]
rs62626313	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs765060	1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv894814	chr10:6078032-6100725	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6077000-6083400	Enhancers	Primary T helper cells fromperipheralblood	blood
2	chr10:6078200-6082200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr10:6078800-6082000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr10:6078800-6082200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
5	chr10:6080200-6082200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr10:6080200-6083600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr10:6080200-6086400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr10:6080400-6082400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr10:6080600-6081600	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr10:6080600-6082800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr10:6080600-6083200	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr10:6080600-6085400	Weak transcription	Primary B cells from peripheral blood	blood
13	chr10:6080600-6086000	Weak transcription	Fetal Thymus	thymus
14	chr10:6080600-6086000	Weak transcription	Thymus	Thymus
15	chr10:6080600-6086800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr10:6080800-6083800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr10:6081000-6082000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr10:6081200-6081600	Weak transcription	Primary T cells from cord blood	blood
19	chr10:6081200-6081600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr10:6081400-6081800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood

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