Variant report

Variant	rs73662853
Chromosome Location	chr8:10389570-10389571
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10385003..10387503-chr8:10387534..10389868,2	K562	blood:

Variant related genes	Relation type
ENSG00000184647	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10108562	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11774008	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11775794	1.00[ASN][1000 genomes]
rs11776423	1.00[ASN][1000 genomes]
rs11776454	1.00[ASN][1000 genomes]
rs11777184	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11778788	1.00[ASN][1000 genomes]
rs11778815	1.00[ASN][1000 genomes]
rs11779652	1.00[ASN][1000 genomes]
rs11780167	1.00[ASN][1000 genomes]
rs11780436	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11780868	1.00[ASN][1000 genomes]
rs11781718	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11783577	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11783848	1.00[ASN][1000 genomes]
rs11785876	1.00[ASN][1000 genomes]
rs11786688	1.00[ASN][1000 genomes]
rs11787384	1.00[ASN][1000 genomes]
rs11787493	1.00[ASN][1000 genomes]
rs13249905	1.00[ASN][1000 genomes]
rs17151969	1.00[ASN][1000 genomes]
rs28361533	1.00[ASN][1000 genomes]
rs28577240	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34994999	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4320513	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4591993	1.00[ASN][1000 genomes]
rs4840494	1.00[ASN][1000 genomes]
rs4840495	1.00[ASN][1000 genomes]
rs4840496	1.00[ASN][1000 genomes]
rs4841364	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4841367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841379	1.00[ASN][1000 genomes]
rs4841390	1.00[ASN][1000 genomes]
rs4841394	1.00[ASN][1000 genomes]
rs4841395	1.00[ASN][1000 genomes]
rs4841397	1.00[ASN][1000 genomes]
rs4841400	1.00[ASN][1000 genomes]
rs4841406	1.00[ASN][1000 genomes]
rs56096665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58842562	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60930396	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61743179	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6601486	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6981847	1.00[ASN][1000 genomes]
rs7006052	1.00[ASN][1000 genomes]
rs73662849	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73662851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73662852	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73662854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73662855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73662857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73662858	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73662860	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7846306	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1025557	chr8:10216726-10555187	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv610267	chr8:10268736-10526742	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv1030856	chr8:10303099-10439064	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv610268	chr8:10331636-10486652	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
9	nsv1025251	chr8:10343591-10488557	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv1015932	chr8:10357101-10597856	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
11	nsv1026918	chr8:10359634-10390452	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10383400-10392200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:10388000-10390800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr8:10388800-10389800	Bivalent Enhancer	HMEC	breast
4	chr8:10388800-10390600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:10389000-10389800	Enhancers	Esophagus	oesophagus
6	chr8:10389000-10390000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:10389000-10390600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:10389200-10390200	Enhancers	Fetal Muscle Leg	muscle
9	chr8:10389200-10390800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr8:10389400-10390200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr8:10389400-10397400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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