Variant report

Variant	rs56314005
Chromosome Location	chr4:54507087-54507088
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	chr4:54506137..54508059-chr4:54527992..54529593,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs4864806	0.95[EUR][1000 genomes]
rs55843256	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62323674	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62323675	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62323676	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62323677	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62323679	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62323680	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62323681	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62323682	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62325510	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73250977	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73250980	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829936	chr4:54367783-54556123	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr4:54501400-54510800	Weak transcription	Right Atrium	heart
2	chr4:54502800-54507600	Weak transcription	Adipose Nuclei	Adipose
3	chr4:54505600-54507600	Enhancers	GM12878-XiMat	blood
4	chr4:54505600-54508400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:54505800-54507400	Enhancers	Esophagus	oesophagus
6	chr4:54505800-54508000	Enhancers	Fetal Heart	heart
7	chr4:54506200-54507800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:54506200-54508200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr4:54506400-54507200	Enhancers	Placenta	Placenta
10	chr4:54506400-54507200	Enhancers	Fetal Stomach	stomach
11	chr4:54506400-54507400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr4:54506400-54507800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr4:54506400-54507800	Enhancers	Brain Hippocampus Middle	brain
14	chr4:54506400-54507800	Enhancers	Stomach Mucosa	stomach
15	chr4:54506400-54508000	Enhancers	Fetal Lung	lung
16	chr4:54506600-54507200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr4:54506600-54507200	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr4:54506800-54507200	Enhancers	Small Intestine	intestine
19	chr4:54506800-54507800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:54506800-54507800	Enhancers	Brain Germinal Matrix	brain
21	chr4:54506800-54511000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:54507000-54507400	Enhancers	Left Ventricle	heart
23	chr4:54507000-54507400	Enhancers	Pancreas	Pancrea
24	chr4:54507000-54507400	Enhancers	Right Ventricle	heart
25	chr4:54507000-54507600	Enhancers	Fetal Muscle Leg	muscle
26	chr4:54507000-54507800	Enhancers	Colon Smooth Muscle	Colon
27	chr4:54507000-54507800	Enhancers	Duodenum Mucosa	Duodenum
28	chr4:54507000-54507800	Enhancers	Fetal Intestine Large	intestine
29	chr4:54507000-54507800	Enhancers	Fetal Intestine Small	intestine
30	chr4:54507000-54507800	Enhancers	Gastric	stomach
31	chr4:54507000-54507800	Enhancers	Lung	lung
32	chr4:54507000-54507800	Enhancers	Skeletal Muscle Male	skeletal muscle

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