Variant report

Variant	rs4130045
Chromosome Location	chr8:61198204-61198205
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	ZNF384	chr8:61197472-61198345	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:61197631..61199694-chr8:61208283..61210398,2	K562	blood:
2	chr8:61192442..61196221-chr8:61196731..61199098,4	MCF-7	breast:
3	chr8:61116674..61118550-chr8:61196001..61198215,2	MCF-7	breast:
4	chr8:61192521..61195456-chr8:61197936..61200011,2	MCF-7	breast:
5	chr8:61197740..61199374-chr8:61204878..61207311,3	K562	blood:

No data

Variant related genes	Relation type
CA8	TF binding region
ENSG00000178538	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs16925984	0.86[AMR][1000 genomes]
rs16925991	0.86[AMR][1000 genomes]
rs16925993	0.86[AMR][1000 genomes]
rs16925996	0.86[AMR][1000 genomes]
rs41337844	0.86[AMR][1000 genomes]
rs57226758	0.86[AMR][1000 genomes]
rs57639687	0.86[AMR][1000 genomes]
rs58158351	0.86[AMR][1000 genomes]
rs59083851	0.86[AMR][1000 genomes]
rs59464858	0.86[AMR][1000 genomes]
rs59489989	0.86[AMR][1000 genomes]
rs60623499	0.86[AMR][1000 genomes]
rs60776885	0.86[AMR][1000 genomes]
rs61335302	0.86[AMR][1000 genomes]
rs61461169	0.86[AMR][1000 genomes]
rs6982322	0.86[AMR][1000 genomes]
rs6994338	0.86[AMR][1000 genomes]
rs6994639	0.86[AMR][1000 genomes]
rs7001331	0.86[AMR][1000 genomes]
rs7001650	0.86[AMR][1000 genomes]
rs7002034	0.86[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	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	nsv1022752	chr8:61095248-61322302	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv831333	chr8:61102862-61275122	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	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
5	nsv890943	chr8:61134995-61225652	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61194000-61198600	Weak transcription	Gastric	stomach
2	chr8:61194800-61198600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr8:61195200-61198600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr8:61197800-61198400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:61198200-61198600	Enhancers	K562	blood

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