Variant report

Variant	rs43136
Chromosome Location	chr8:90840414-90840415
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:90840368-90841586	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:90838601..90840941-chr8:90843850..90846321,2	MCF-7	breast:
2	chr8:90824515..90827081-chr8:90836313..90840458,3	MCF-7	breast:
3	chr8:90835853..90837817-chr8:90838818..90840749,2	MCF-7	breast:
4	chr8:90838578..90843611-chr8:90912392..90915640,4	MCF-7	breast:
5	chr8:90838136..90841638-chr8:90842560..90845111,3	K562	blood:

No data

Variant related genes	Relation type
COX6B1P6	TF binding region
ENSG00000164823	Chromatin interaction
ENSG00000207359	Chromatin interaction
ENSG00000253349	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs365871	0.91[ASN][1000 genomes]
rs369771	0.89[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs374957	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs376110	0.89[AFR][1000 genomes]
rs386857	0.85[CHB][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs394108	0.84[JPT][hapmap];0.89[YRI][hapmap]
rs39515	0.84[JPT][hapmap];1.00[YRI][hapmap]
rs39519	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39771	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs39772	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs398959	0.89[ASN][1000 genomes]
rs400571	0.86[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs40250	0.94[EUR][1000 genomes]
rs40457	0.89[AFR][1000 genomes]
rs40459	0.92[CEU][hapmap];0.93[EUR][1000 genomes]
rs410577	0.86[CHB][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs410663	0.92[CEU][hapmap];0.91[EUR][1000 genomes]
rs418634	0.90[EUR][1000 genomes]
rs419890	0.94[EUR][1000 genomes]
rs42186	0.93[EUR][1000 genomes]
rs42481	0.92[CEU][hapmap];0.94[EUR][1000 genomes]
rs425312	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs426240	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs427854	0.92[EUR][1000 genomes]
rs43227	0.89[AFR][1000 genomes]
rs43229	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs438485	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs447989	0.85[CEU][hapmap];0.90[EUR][1000 genomes]
rs453266	0.89[AFR][1000 genomes]
rs454561	0.89[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][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	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv891182	chr8:90785685-90888786	Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv520356	chr8:90823687-90857989	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv968495	chr8:90835687-90842298	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv2761448	chr8:90837630-90853986	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs43136	RP11-37B2.1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90828000-90845800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr8:90837000-90847600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr8:90837200-90844600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr8:90838000-90841000	Enhancers	NHDF-Ad	bronchial
5	chr8:90838600-90841000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:90838800-90841200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:90839200-90848400	Weak transcription	Osteobl	bone
8	chr8:90840000-90846000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:90840000-90847400	Weak transcription	A549	lung

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