Variant report

Variant	rs4596337
Chromosome Location	chr5:54015521-54015522
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:54014462..54016849-chr5:54037550..54040142,2	K562	blood:
2	chr5:54013909..54016441-chr5:54127667..54129605,2	K562	blood:
3	chr5:54014127..54017064-chr5:54035440..54037239,2	K562	blood:
4	chr5:54014127..54018411-chr5:54034085..54037239,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10051041	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13184145	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1823052	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2121129	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34314188	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34607327	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs35820411	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3886214	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3923238	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4460095	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62356380	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71600852	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7724122	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7725001	0.89[ASN][1000 genomes]
rs7729102	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7730881	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][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	nsv965525	chr5:54010194-54018240	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54010600-54015600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:54010600-54016600	Weak transcription	Aorta	Aorta
3	chr5:54011600-54016400	Weak transcription	Gastric	stomach
4	chr5:54013200-54020800	Enhancers	Fetal Heart	heart
5	chr5:54013800-54017600	Enhancers	Fetal Brain Male	brain
6	chr5:54014200-54015600	Enhancers	Fetal Brain Female	brain
7	chr5:54014200-54016000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr5:54014200-54016400	Enhancers	Fetal Lung	lung
9	chr5:54014200-54016600	Enhancers	Fetal Muscle Trunk	muscle
10	chr5:54014400-54015600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr5:54014400-54015600	Enhancers	Brain Angular Gyrus	brain
12	chr5:54014400-54015600	Enhancers	Brain Hippocampus Middle	brain
13	chr5:54014400-54015600	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr5:54014400-54015800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:54014400-54015800	Enhancers	Brain Anterior Caudate	brain
16	chr5:54014400-54015800	Enhancers	Brain Cingulate Gyrus	brain
17	chr5:54014400-54015800	Enhancers	Pancreas	Pancrea
18	chr5:54014400-54016000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr5:54014400-54016000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr5:54014400-54016000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:54014400-54016000	Enhancers	Adipose Nuclei	Adipose
22	chr5:54014400-54016000	Enhancers	Ovary	ovary
23	chr5:54014400-54016000	Enhancers	HMEC	breast
24	chr5:54014400-54016200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:54014400-54016200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:54014400-54016600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:54014400-54016600	Enhancers	Left Ventricle	heart
28	chr5:54014400-54016600	Enhancers	NHDF-Ad	bronchial
29	chr5:54014400-54016800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr5:54014400-54016800	Enhancers	Fetal Stomach	stomach
31	chr5:54014400-54016800	Enhancers	NH-A	brain
32	chr5:54014400-54016800	Enhancers	NHLF	lung
33	chr5:54014400-54017000	Enhancers	Fetal Muscle Leg	muscle
34	chr5:54014600-54015600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr5:54014600-54015600	Enhancers	Stomach Smooth Muscle	stomach
36	chr5:54014600-54015800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr5:54014600-54015800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:54014600-54015800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:54014600-54016000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr5:54014600-54016000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr5:54014600-54016000	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr5:54014600-54016000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr5:54014600-54016400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:54014600-54016800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr5:54014600-54016800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:54014600-54016800	Enhancers	K562	blood
47	chr5:54014600-54023000	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr5:54014800-54015800	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr5:54014800-54016200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr5:54014800-54016400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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