Variant report

Variant	rs603679
Chromosome Location	chr4:20556634-20556635
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	chr4:20555967..20557515-chr4:20560187..20562969,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2446087	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs532992	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs576127	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs609535	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs621806	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs652756	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7666974	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829875	chr4:20502895-20680956	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	89 gene(s)	inside rSNPs	diseases
2	nsv999482	chr4:20546216-20563747	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1007227	chr4:20547578-20563930	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv516999	chr4:20548976-20565861	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3692811	chr4:20552510-20565861	Strong transcription Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv2760835	chr4:20555720-20563942	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20492000-20599800	Weak transcription	Aorta	Aorta
2	chr4:20511800-20576200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr4:20519400-20571000	Weak transcription	Adipose Nuclei	Adipose
4	chr4:20533000-20578000	Weak transcription	NHLF	lung
5	chr4:20533800-20576200	Weak transcription	Left Ventricle	heart
6	chr4:20534800-20576400	Weak transcription	Fetal Brain Male	brain
7	chr4:20535800-20593600	Weak transcription	Fetal Kidney	kidney
8	chr4:20536600-20572200	Weak transcription	Placenta	Placenta
9	chr4:20536800-20618600	Weak transcription	Spleen	Spleen
10	chr4:20547000-20576000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:20549200-20568800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:20550000-20561400	Strong transcription	NHDF-Ad	bronchial
13	chr4:20550400-20561000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:20552000-20557600	Strong transcription	Fetal Lung	lung
15	chr4:20552400-20561000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:20552600-20558600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:20553000-20569200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:20553600-20565400	Weak transcription	Colon Smooth Muscle	Colon
19	chr4:20554000-20557200	Weak transcription	Lung	lung
20	chr4:20554200-20576600	Weak transcription	Fetal Stomach	stomach
21	chr4:20555000-20557400	Weak transcription	Brain Anterior Caudate	brain
22	chr4:20555200-20557800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr4:20555200-20585600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr4:20555400-20562800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr4:20555400-20569200	Weak transcription	Osteobl	bone
26	chr4:20555600-20599200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr4:20555800-20559600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr4:20556000-20558600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr4:20556000-20559000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr4:20556000-20566400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr4:20556000-20591000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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