Variant report

Variant	rs28374410
Chromosome Location	chr8:54943757-54943758
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	chr8:54934952..54937736-chr8:54940322..54945083,5	K562	blood:
2	chr8:54934952..54937342-chr8:54941682..54945079,3	K562	blood:

Variant related genes	Relation type
ENSG00000187735	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10101967	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10112111	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10504160	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11549448	0.91[AFR][1000 genomes]
rs16919753	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28437156	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28452332	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28489512	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28575670	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28620338	1.00[AMR][1000 genomes]
rs28698373	1.00[AMR][1000 genomes]
rs28813536	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56894994	1.00[AMR][1000 genomes]
rs73589289	1.00[AMR][1000 genomes]
rs73590828	1.00[AMR][1000 genomes]
rs73590837	1.00[AMR][1000 genomes]
rs73592909	0.82[AFR][1000 genomes];1.00[AMR][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	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

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54935400-54962800	Weak transcription	HSMMtube	muscle
2	chr8:54935600-54946000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:54935600-54954600	Weak transcription	HSMM	muscle
4	chr8:54935600-54955600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr8:54935600-54956600	Weak transcription	Pancreas	Pancrea
6	chr8:54935600-54956600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr8:54935600-54956600	Weak transcription	HUVEC	blood vessel
8	chr8:54935600-54963000	Weak transcription	Thymus	Thymus
9	chr8:54936000-54945200	Weak transcription	Placenta	Placenta
10	chr8:54936200-54943800	Weak transcription	A549	lung
11	chr8:54938400-54955400	Weak transcription	NHEK	skin
12	chr8:54940200-54978200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr8:54942800-54944400	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr8:54942800-54956600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr8:54943400-54943800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr8:54943400-54943800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr8:54943400-54943800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr8:54943400-54944000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:54943400-54944000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:54943400-54944200	Enhancers	H1 Cell Line	embryonic stem cell
21	chr8:54943400-54944200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr8:54943400-54944200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr8:54943600-54943800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr8:54943600-54943800	Enhancers	Lung	lung
25	chr8:54943600-54944000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:54943600-54944000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:54943600-54944200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr8:54943600-54944200	Enhancers	H9 Cell Line	embryonic stem cell
29	chr8:54943600-54944200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:54943600-54944200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr8:54943600-54944200	Enhancers	K562	blood
32	chr8:54943600-54944600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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