Variant report

Variant	rs56253010
Chromosome Location	chr8:54865241-54865242
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:54864473..54868508-chr8:54874228..54876255,3	K562	blood:
2	chr8:54864579..54866834-chr8:54868717..54871621,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11783652	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16919699	0.89[EUR][1000 genomes];0.89[ASN][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	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2758160	chr8:54832990-55016965	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2759617	chr8:54832990-55016965	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv427821	chr8:54832990-55016965	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	esv1833796	chr8:54855680-54866491	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54851200-54872600	Weak transcription	Brain Germinal Matrix	brain
2	chr8:54852200-54872600	Weak transcription	Fetal Brain Female	brain
3	chr8:54852400-54872600	Weak transcription	Esophagus	oesophagus
4	chr8:54853800-54869000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:54856400-54889400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:54858000-54867800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:54858000-54870800	Weak transcription	Brain Anterior Caudate	brain
8	chr8:54858000-54870800	Weak transcription	Fetal Muscle Leg	muscle
9	chr8:54858000-54871400	Weak transcription	Primary B cells from cord blood	blood
10	chr8:54858000-54872000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr8:54858200-54868400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:54858200-54872200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr8:54858200-54872600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:54858200-54872600	Weak transcription	Brain Hippocampus Middle	brain
15	chr8:54858200-54879000	Weak transcription	Right Atrium	heart
16	chr8:54858400-54871400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr8:54858400-54872600	Weak transcription	Lung	lung
18	chr8:54858600-54865400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:54859000-54865800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:54859000-54865800	Weak transcription	Placenta	Placenta
21	chr8:54859000-54872200	Weak transcription	Aorta	Aorta
22	chr8:54859400-54865400	Weak transcription	NHLF	lung
23	chr8:54859400-54865800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:54859400-54865800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr8:54859400-54866200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr8:54859400-54866400	Weak transcription	Adipose Nuclei	Adipose
27	chr8:54859400-54866400	Weak transcription	HUVEC	blood vessel
28	chr8:54859400-54866400	Weak transcription	NH-A	brain
29	chr8:54859600-54865400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr8:54859600-54865400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:54859600-54865400	Weak transcription	NHDF-Ad	bronchial
32	chr8:54859600-54866200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:54859600-54866400	Weak transcription	A549	lung
34	chr8:54859600-54869400	Weak transcription	HMEC	breast
35	chr8:54859600-54881200	Weak transcription	Hela-S3	cervix
36	chr8:54859600-54885400	Weak transcription	K562	blood
37	chr8:54862000-54866600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr8:54862000-54879200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr8:54862200-54872200	Weak transcription	Primary T cells from cord blood	blood
40	chr8:54862200-54879200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:54863000-54866400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr8:54863800-54868400	Weak transcription	GM12878-XiMat	blood
43	chr8:54864000-54865400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr8:54864000-54867800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr8:54864000-54868600	Weak transcription	NHEK	skin
46	chr8:54865200-54865800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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