Variant report

Variant	rs56271298
Chromosome Location	chr4:8323193-8323194
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:8322827..8325228-chr4:8329737..8331737,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10017993	0.91[EUR][1000 genomes]
rs4235263	0.88[EUR][1000 genomes]
rs4270574	0.91[EUR][1000 genomes]
rs4373141	0.91[EUR][1000 genomes]
rs4696678	0.91[EUR][1000 genomes]
rs6414719	0.91[EUR][1000 genomes]
rs67277998	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6817806	0.91[EUR][1000 genomes]
rs9991906	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv878595	chr4:8154534-8390646	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv878601	chr4:8214767-8440951	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv878602	chr4:8214767-8448992	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1009011	chr4:8225669-8424831	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv470013	chr4:8315938-8377058	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	esv3324716	chr4:8320952-8325250	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8317800-8326200	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr4:8318600-8324200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:8318600-8325000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr4:8319200-8324200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:8319200-8326200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:8319400-8324200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr4:8320800-8323200	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr4:8320800-8323400	Enhancers	Colon Smooth Muscle	Colon
9	chr4:8321600-8323200	Enhancers	Fetal Heart	heart
10	chr4:8322000-8323200	Enhancers	Pancreas	Pancrea
11	chr4:8322000-8325800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:8322200-8326400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:8322400-8325600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:8322400-8325800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:8322400-8325800	Weak transcription	Right Ventricle	heart
16	chr4:8322400-8326000	Weak transcription	Esophagus	oesophagus
17	chr4:8322400-8326000	Weak transcription	Left Ventricle	heart
18	chr4:8322400-8326000	Weak transcription	Right Atrium	heart
19	chr4:8322600-8325000	Weak transcription	Fetal Muscle Leg	muscle
20	chr4:8322800-8323200	ZNF genes & repeats	Fetal Kidney	kidney
21	chr4:8322800-8326600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr4:8323000-8323400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
23	chr4:8323000-8323400	Active TSS	Fetal Lung	lung
24	chr4:8323000-8326000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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