Variant report

Variant	rs28590097
Chromosome Location	chr4:56902085-56902086
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	chr4:56900668..56902231-chr4:56908548..56910675,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10004239	1.00[AMR][1000 genomes]
rs10022738	1.00[AMR][1000 genomes]
rs10213231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12331143	1.00[AMR][1000 genomes]
rs17086211	1.00[AMR][1000 genomes]
rs28368303	1.00[AMR][1000 genomes]
rs28376464	1.00[AMR][1000 genomes]
rs28470583	1.00[AMR][1000 genomes]
rs28472737	1.00[AMR][1000 genomes]
rs28573719	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28587231	1.00[AMR][1000 genomes]
rs28611007	1.00[AMR][1000 genomes]
rs28649591	1.00[AMR][1000 genomes]
rs28695752	1.00[AMR][1000 genomes]
rs28744399	1.00[AMR][1000 genomes]
rs28770194	1.00[AMR][1000 genomes]
rs9992612	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv1005845	chr4:56522075-56980357	Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv427681	chr4:56651921-56908209	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56835400-56904800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:56837200-56905000	Weak transcription	Brain Substantia Nigra	brain
3	chr4:56872200-56904800	Weak transcription	HepG2	liver
4	chr4:56891400-56904800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:56891600-56902800	Weak transcription	HSMM	muscle
6	chr4:56891600-56907200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr4:56891800-56903800	Weak transcription	NHDF-Ad	bronchial
8	chr4:56891800-56905000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr4:56891800-56907000	Weak transcription	Spleen	Spleen
10	chr4:56891800-56907600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:56893600-56907200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr4:56893600-56907400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:56893800-56905000	Weak transcription	Placenta	Placenta
14	chr4:56894200-56907000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr4:56894600-56905000	Weak transcription	Brain Germinal Matrix	brain
16	chr4:56895200-56906600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:56895400-56907000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr4:56896400-56903200	Weak transcription	GM12878-XiMat	blood
19	chr4:56897000-56904800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr4:56897000-56907000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr4:56897200-56902600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr4:56897200-56905600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:56897400-56903000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:56897400-56905000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr4:56898000-56907000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr4:56898200-56907200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:56900800-56903800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:56902000-56902200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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