Variant report

Variant	rs13278073
Chromosome Location	chr8:61328821-61328822
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:61328543-61329167	SK-N-MC	brain:	n/a	n/a
2	ZNF143	chr8:61328778-61328854	H1-hESC	embryonic stem cell:	n/a	n/a
3	FOXP2	chr8:61328619-61329043	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr8:61328493-61329771	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61326797..61329744-chr8:61563148..61565858,2	MCF-7	breast:
2	chr8:61325999..61328203-chr8:61328768..61330939,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251396	TF binding region
ENSG00000251396	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10088058	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10101758	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10107773	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10108568	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10111967	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13254748	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13271668	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13272533	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13277273	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13438846	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16926232	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1893278	0.81[EUR][1000 genomes]
rs1941464	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2068589	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28484871	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28576477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28897378	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35907640	0.85[ASN][1000 genomes]
rs3886101	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56073139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62510180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6471876	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6994818	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7002036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7002467	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7820186	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7821955	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7841536	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	esv3371465	chr8:61115030-61356658	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv831334	chr8:61148796-61330190	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 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	chr8:61309000-61330000	Weak transcription	Right Atrium	heart
2	chr8:61325600-61330200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:61326400-61329000	Weak transcription	Right Ventricle	heart
4	chr8:61327000-61329400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr8:61327200-61329600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr8:61328600-61329000	Enhancers	Brain Substantia Nigra	brain
7	chr8:61328800-61329800	Enhancers	Brain Hippocampus Middle	brain

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