Variant report

Variant	rs56367279
Chromosome Location	chr8:61120255-61120256
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	chr8:61118757..61121609-chr8:61123020..61125468,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs16925984	1.00[EUR][1000 genomes]
rs16925991	1.00[EUR][1000 genomes]
rs16925993	1.00[EUR][1000 genomes]
rs16925996	1.00[EUR][1000 genomes]
rs16926045	1.00[EUR][1000 genomes]
rs41337844	1.00[EUR][1000 genomes]
rs57099349	1.00[EUR][1000 genomes]
rs57226758	1.00[EUR][1000 genomes]
rs57639687	1.00[EUR][1000 genomes]
rs58158351	1.00[EUR][1000 genomes]
rs59083851	1.00[EUR][1000 genomes]
rs59464858	1.00[EUR][1000 genomes]
rs59489989	1.00[EUR][1000 genomes]
rs60611994	1.00[EUR][1000 genomes]
rs60623499	1.00[EUR][1000 genomes]
rs60776885	1.00[EUR][1000 genomes]
rs61335302	1.00[EUR][1000 genomes]
rs61461169	1.00[EUR][1000 genomes]
rs6982322	1.00[EUR][1000 genomes]
rs6991970	1.00[EUR][1000 genomes]
rs6994338	1.00[EUR][1000 genomes]
rs7001331	1.00[EUR][1000 genomes]
rs7001911	1.00[EUR][1000 genomes]
rs7002034	1.00[EUR][1000 genomes]
rs7814995	1.00[EUR][1000 genomes]
rs7833440	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv831332	chr8:60985600-61157730	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61100200-61129800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr8:61105800-61149400	Weak transcription	Gastric	stomach
3	chr8:61106400-61138800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr8:61107200-61132000	Weak transcription	Left Ventricle	heart
5	chr8:61107200-61138200	Weak transcription	Placenta	Placenta
6	chr8:61112000-61121200	Weak transcription	Fetal Intestine Small	intestine
7	chr8:61116800-61120800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:61117800-61167400	Weak transcription	Fetal Stomach	stomach
9	chr8:61119000-61120600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:61119000-61121400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr8:61119000-61121600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr8:61119000-61121600	Strong transcription	K562	blood
13	chr8:61119400-61120400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr8:61119400-61139400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:61119600-61120400	Enhancers	Fetal Lung	lung
16	chr8:61119600-61138400	Weak transcription	Lung	lung
17	chr8:61119800-61121400	Genic enhancers	Fetal Intestine Large	intestine

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