Variant report

Variant	rs443924
Chromosome Location	chr6:28532839-28532840
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27775097..27777835-chr6:28531573..28533204,2	K562	blood:
2	chr6:28509624..28513880-chr6:28531310..28536044,4	K562	blood:
3	chr6:28531771..28534007-chr6:28582545..28584317,2	K562	blood:
4	chr6:28529471..28535442-chr6:28536902..28541186,7	K562	blood:
5	chr6:28508074..28513880-chr6:28531341..28537609,9	K562	blood:
6	chr6:28457050..28459909-chr6:28532442..28533968,2	K562	blood:
7	chr6:28531413..28534282-chr6:28574437..28577006,3	K562	blood:
8	chr6:28532530..28535314-chr6:28537966..28540071,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000196747	Chromatin interaction
ENSG00000185130	Chromatin interaction
ENSG00000232040	Chromatin interaction

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

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

rs_ID	r²[population]
rs10080420	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10434846	1.00[ASN][1000 genomes]
rs10447392	0.87[AFR][1000 genomes]
rs10733177	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10755647	1.00[ASN][1000 genomes]
rs10807032	1.00[ASN][1000 genomes]
rs10807036	0.83[ASN][1000 genomes]
rs10807040	1.00[ASN][1000 genomes]
rs11758055	1.00[ASN][1000 genomes]
rs12332986	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1474986	0.94[ASN][1000 genomes]
rs1884938	0.85[AFR][1000 genomes]
rs2057295	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2191036	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2394119	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382606	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34358978	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34931542	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3757180	1.00[EUR][1000 genomes]
rs381493	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs384399	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3852211	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs389603	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs392471	0.88[ASN][1000 genomes]
rs394772	1.00[ASN][1000 genomes]
rs399558	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3999023	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs402426	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs404343	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs408255	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs411538	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4121090	1.00[ASN][1000 genomes]
rs418628	1.00[ASN][1000 genomes]
rs418898	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs420436	1.00[ASN][1000 genomes]
rs420463	1.00[ASN][1000 genomes]
rs422089	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs424426	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs426922	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs429875	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs434636	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs442174	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs449074	1.00[ASN][1000 genomes]
rs454746	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4711176	1.00[ASN][1000 genomes]
rs4713172	1.00[ASN][1000 genomes]
rs4713174	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5007575	0.94[ASN][1000 genomes]
rs55860825	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6456812	1.00[EUR][1000 genomes]
rs6456817	1.00[EUR][1000 genomes]
rs6456820	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6456829	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6456832	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6456833	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6899512	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6901001	1.00[EUR][1000 genomes]
rs6906826	1.00[ASN][1000 genomes]
rs6908459	1.00[EUR][1000 genomes]
rs6910120	1.00[EUR][1000 genomes]
rs6912921	1.00[EUR][1000 genomes]
rs6918631	1.00[EUR][1000 genomes]
rs6923163	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6925972	1.00[ASN][1000 genomes]
rs6927023	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6929449	1.00[EUR][1000 genomes]
rs6935589	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6937042	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6938371	1.00[EUR][1000 genomes]
rs6941222	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7381746	1.00[ASN][1000 genomes]
rs7382159	1.00[ASN][1000 genomes]
rs7382309	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7382583	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7738536	0.85[AFR][1000 genomes]
rs7752721	1.00[EUR][1000 genomes]
rs7761914	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7771490	1.00[ASN][1000 genomes]
rs7773193	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs911177	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs911178	0.88[ASN][1000 genomes]
rs9295769	1.00[EUR][1000 genomes]
rs9295770	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9393922	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9393923	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9461457	1.00[EUR][1000 genomes]
rs9461464	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9468375	1.00[EUR][1000 genomes]
rs9468384	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9468394	1.00[ASN][1000 genomes]
rs9654587	1.00[EUR][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	nsv462666	chr6:28417222-28574415	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv601210	chr6:28417222-28574415	Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1020689	chr6:28449137-28635171	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv830621	chr6:28473951-28675709	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28530600-28533800	Enhancers	K562	blood
2	chr6:28531600-28535200	Weak transcription	A549	lung
3	chr6:28531800-28534000	Weak transcription	Liver	Liver
4	chr6:28531800-28553200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:28532000-28533400	Weak transcription	HepG2	liver
6	chr6:28532000-28536400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:28532000-28552600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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