Variant report

Variant	rs12798229
Chromosome Location	chr11:85625948-85625949
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	chr11:85622980..85626324-chr11:85632468..85635481,3	K562	blood:
2	chr11:85618072..85620096-chr11:85623462..85626415,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255005	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10501602	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11234465	0.82[ASN][1000 genomes]
rs11821654	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12274739	0.82[ASN][1000 genomes]
rs12274987	0.89[EUR][1000 genomes]
rs12286210	0.82[ASN][1000 genomes]
rs12286312	0.82[ASN][1000 genomes]
rs12787418	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12787556	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12787654	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12788654	0.83[AMR][1000 genomes]
rs12788680	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12790645	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12791520	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12794211	0.81[AMR][1000 genomes]
rs12795381	0.81[AMR][1000 genomes]
rs12798065	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12798898	0.88[EUR][1000 genomes]
rs12802064	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12804751	0.81[EUR][1000 genomes]
rs12805520	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17744745	0.88[ASN][1000 genomes]
rs17745024	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17817402	0.82[ASN][1000 genomes]
rs17817600	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17817648	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28365806	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3213934	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34003294	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34223518	0.83[EUR][1000 genomes]
rs34332755	0.84[EUR][1000 genomes]
rs34584483	0.88[EUR][1000 genomes]
rs34609418	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34631477	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34675784	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34700169	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34766621	0.81[AMR][1000 genomes]
rs34874199	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34959028	0.81[AMR][1000 genomes]
rs35220752	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35519080	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35585561	0.84[EUR][1000 genomes]
rs35866111	0.88[EUR][1000 genomes]
rs35992035	0.84[EUR][1000 genomes]
rs41489645	0.84[EUR][1000 genomes]
rs55932210	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56094546	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56191920	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs66802900	0.82[EUR][1000 genomes]
rs67282763	0.80[EUR][1000 genomes]
rs67682051	0.81[EUR][1000 genomes]
rs67719619	0.88[EUR][1000 genomes]
rs7118279	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71465608	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71465611	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051155	chr11:85006564-85721261	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv541110	chr11:85006564-85721261	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv1035489	chr11:85502953-85778229	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1048818	chr11:85524635-85746473	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv541116	chr11:85524635-85746473	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv898053	chr11:85579304-85634425	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1053808	chr11:85588919-85757693	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85615800-85630200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:85623400-85626000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr11:85625600-85626400	Enhancers	Monocytes-CD14+_RO01746	blood

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