Variant report

Variant	rs17028407
Chromosome Location	chr4:152944433-152944434
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:152939022..152940789-chr4:152944064..152945576,2	K562	blood:
2	chr4:152938213..152941320-chr4:152942977..152945564,4	K562	blood:

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17028395	0.83[AMR][1000 genomes]
rs17028413	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1991225	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62318960	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62318961	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62321495	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62321497	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62321516	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6844610	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6847152	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7682518	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7682524	0.89[AMR][1000 genomes];0.98[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	nsv432644	chr4:152635395-153023402	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv880341	chr4:152861685-153110256	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv931416	chr4:152877808-153440553	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv461679	chr4:152935555-152992741	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv595734	chr4:152935555-152992741	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152941600-152945400	Enhancers	Right Ventricle	heart
2	chr4:152941600-152946200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr4:152942000-152944600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
4	chr4:152942000-152946800	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr4:152942200-152944800	Enhancers	Brain Angular Gyrus	brain
6	chr4:152942200-152946400	Enhancers	Brain Cingulate Gyrus	brain
7	chr4:152943000-152945400	Enhancers	Right Atrium	heart
8	chr4:152943600-152945000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr4:152943800-152944800	Weak transcription	Fetal Heart	heart
10	chr4:152943800-152946000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:152944000-152944600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:152944000-152946200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr4:152944000-152947400	Enhancers	Fetal Thymus	thymus
14	chr4:152944200-152944600	Enhancers	Spleen	Spleen
15	chr4:152944200-152945400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:152944200-152946600	Enhancers	Brain Hippocampus Middle	brain
17	chr4:152944200-152947000	Enhancers	Primary T cells fromperipheralblood	blood
18	chr4:152944400-152944600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:152944400-152945200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr4:152944400-152945800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:152944400-152946000	Weak transcription	Brain Anterior Caudate	brain
22	chr4:152944400-152946800	Enhancers	Brain Substantia Nigra	brain

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