Variant report

Variant	rs59972649
Chromosome Location	chr8:52441379-52441380
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	chr8:52441213..52443800-chr8:52919791..52921863,2	K562	blood:

Variant related genes	Relation type
ENSG00000254136	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10093325	1.00[AMR][1000 genomes]
rs10099947	1.00[AMR][1000 genomes]
rs10108597	1.00[AMR][1000 genomes]
rs1318142	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2217524	1.00[AMR][1000 genomes]
rs2915506	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2979115	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56804147	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57155671	1.00[AMR][1000 genomes]
rs57492114	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58900486	1.00[AMR][1000 genomes]
rs59179309	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59313662	1.00[AMR][1000 genomes]
rs59625467	1.00[AMR][1000 genomes]
rs59713862	1.00[AMR][1000 genomes]
rs59774513	1.00[AMR][1000 genomes]
rs59882925	1.00[AMR][1000 genomes]
rs60820519	1.00[AMR][1000 genomes]
rs61134940	1.00[AMR][1000 genomes]
rs61136207	1.00[AMR][1000 genomes]
rs61305961	1.00[AMR][1000 genomes]
rs61336437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61356666	0.84[AFR][1000 genomes]
rs6984579	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6989113	1.00[AMR][1000 genomes]
rs6990005	1.00[AMR][1000 genomes]
rs7013608	1.00[AMR][1000 genomes]
rs73577701	1.00[AMR][1000 genomes]
rs73579639	1.00[AMR][1000 genomes]
rs73579644	1.00[AMR][1000 genomes]
rs73579645	1.00[AMR][1000 genomes]
rs73579656	1.00[AMR][1000 genomes]
rs73579662	1.00[AMR][1000 genomes]
rs73579671	1.00[AMR][1000 genomes]
rs73579673	1.00[AMR][1000 genomes]
rs73579675	1.00[AMR][1000 genomes]
rs73579680	1.00[AMR][1000 genomes]
rs73579682	1.00[AMR][1000 genomes]
rs73579687	1.00[AMR][1000 genomes]
rs73581425	1.00[AMR][1000 genomes]
rs73581432	1.00[AMR][1000 genomes]
rs73583005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73583068	1.00[AMR][1000 genomes]
rs73583070	1.00[AMR][1000 genomes]
rs73583076	1.00[AMR][1000 genomes]
rs73583082	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73583096	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73583098	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73586772	1.00[AMR][1000 genomes]
rs73588736	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73588737	1.00[AMR][1000 genomes]
rs7831357	1.00[AMR][1000 genomes]
rs7832682	1.00[AMR][1000 genomes]
rs7838528	1.00[AMR][1000 genomes]
rs9785122	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932026	chr8:51858658-52758574	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv890895	chr8:52190571-52615191	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer 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	22 gene(s)	inside rSNPs	diseases
4	nsv1018429	chr8:52411443-52878946	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers 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	19 gene(s)	inside rSNPs	diseases
5	nsv1034856	chr8:52411443-52886765	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv890896	chr8:52428061-52454721	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 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	chr8:52433400-52443000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:52438600-52442200	Weak transcription	Left Ventricle	heart
3	chr8:52438600-52442800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:52438800-52443200	Weak transcription	Esophagus	oesophagus
5	chr8:52438800-52443400	Weak transcription	Aorta	Aorta
6	chr8:52440400-52441400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr8:52441200-52442000	Enhancers	HUES48 Cell Line	embryonic stem cell

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