Variant report

Variant	rs28721934
Chromosome Location	chr4:86844482-86844483
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10007847	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1016511	0.89[EUR][1000 genomes]
rs10516766	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10516767	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13435741	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13435823	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1546491	0.81[EUR][1000 genomes]
rs1546492	0.81[EUR][1000 genomes]
rs17011143	0.83[EUR][1000 genomes]
rs17011177	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17011196	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17410455	0.89[EUR][1000 genomes]
rs17411008	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17411091	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2280036	0.91[ASN][1000 genomes]
rs28434164	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28523568	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28538646	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28605002	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs723570	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72660111	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs893038	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs893039	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9990941	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9997854	0.85[AMR][1000 genomes];0.96[EUR][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	nsv830000	chr4:86745341-86909059	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv879519	chr4:86786204-86871282	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv879520	chr4:86829529-86918232	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86808200-86846000	Weak transcription	HUVEC	blood vessel
2	chr4:86826800-86845400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:86827600-86850600	Weak transcription	Spleen	Spleen
4	chr4:86831200-86851000	Weak transcription	Aorta	Aorta
5	chr4:86836000-86848800	Weak transcription	Fetal Kidney	kidney
6	chr4:86839200-86846000	Weak transcription	HSMM	muscle
7	chr4:86840600-86849800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:86841400-86844800	Weak transcription	NHDF-Ad	bronchial
9	chr4:86841400-86849400	Weak transcription	A549	lung
10	chr4:86841600-86848800	Weak transcription	Stomach Mucosa	stomach
11	chr4:86842800-86844600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:86843000-86849200	Weak transcription	Left Ventricle	heart
13	chr4:86843000-86850600	Weak transcription	Psoas Muscle	Psoas
14	chr4:86843200-86849000	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr4:86843200-86849200	Weak transcription	Pancreas	Pancrea
16	chr4:86843200-86849600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr4:86843200-86850000	Weak transcription	HSMMtube	muscle
18	chr4:86843200-86852400	Weak transcription	Esophagus	oesophagus
19	chr4:86843400-86845000	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr4:86843800-86847000	Strong transcription	Primary B cells from peripheral blood	blood
21	chr4:86843800-86848600	Strong transcription	Primary B cells from cord blood	blood
22	chr4:86844200-86845000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:86844200-86846000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr4:86844200-86847000	Strong transcription	Fetal Muscle Leg	muscle
25	chr4:86844400-86847400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:86844400-86853800	Weak transcription	Gastric	stomach

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