Variant report

Variant	rs28521093
Chromosome Location	chr4:186669718-186669719
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	chr4:186666479..186668321-chr4:186669245..186671084,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10027307	0.83[AMR][1000 genomes]
rs10027404	0.83[AMR][1000 genomes]
rs12640727	0.83[AMR][1000 genomes]
rs12640785	0.83[AMR][1000 genomes]
rs12646825	0.83[AMR][1000 genomes]
rs12649994	0.83[AMR][1000 genomes]
rs28386838	0.83[AMR][1000 genomes]
rs28526455	0.83[AMR][1000 genomes]
rs28575175	0.83[AMR][1000 genomes]
rs28682410	0.83[AMR][1000 genomes]
rs55857714	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56110010	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62334818	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62334849	0.83[AMR][1000 genomes]
rs62334851	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62334852	0.83[AMR][1000 genomes]
rs62334854	0.83[AMR][1000 genomes]
rs62334855	0.81[AMR][1000 genomes]
rs62334857	0.83[AMR][1000 genomes]
rs6857307	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72496330	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72703826	0.83[AMR][1000 genomes]
rs7654366	0.87[AMR][1000 genomes]
rs7655720	0.83[AMR][1000 genomes]
rs7656170	0.83[AMR][1000 genomes]
rs7680186	0.83[AMR][1000 genomes]
rs7680806	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432684	chr4:186412851-186742851	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1020731	chr4:186512433-186724031	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1023917	chr4:186533075-186997806	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv537420	chr4:186533075-186997806	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv830171	chr4:186610113-186789271	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1023412	chr4:186613289-186707428	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv537421	chr4:186613289-186707428	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv427702	chr4:186618031-186782377	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv530178	chr4:186659940-187478310	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186655200-186701400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:186656200-186676200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:186660200-186670200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr4:186660400-186678000	Weak transcription	HSMMtube	muscle
5	chr4:186660800-186676000	Weak transcription	HUVEC	blood vessel
6	chr4:186661400-186694600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr4:186661600-186672400	Weak transcription	Fetal Kidney	kidney
8	chr4:186662200-186674000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:186662200-186675800	Weak transcription	Lung	lung
10	chr4:186662200-186688800	Weak transcription	Aorta	Aorta
11	chr4:186664200-186670200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr4:186664200-186670800	Weak transcription	Colon Smooth Muscle	Colon
13	chr4:186664200-186675800	Weak transcription	Stomach Mucosa	stomach
14	chr4:186664800-186670600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr4:186664800-186671000	Weak transcription	GM12878-XiMat	blood
16	chr4:186664800-186693400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr4:186665200-186682600	Weak transcription	HSMM	muscle
18	chr4:186665800-186670600	Enhancers	Right Ventricle	heart
19	chr4:186666400-186670200	Weak transcription	Right Atrium	heart
20	chr4:186666400-186671000	Weak transcription	Pancreas	Pancrea
21	chr4:186666400-186679800	Weak transcription	HepG2	liver
22	chr4:186666800-186670200	Enhancers	Left Ventricle	heart
23	chr4:186667200-186671600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr4:186667400-186669800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr4:186667600-186691400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr4:186668400-186669800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:186668400-186676000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:186668600-186670000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr4:186668600-186671400	Enhancers	Fetal Heart	heart
30	chr4:186668800-186676000	Weak transcription	Fetal Intestine Small	intestine
31	chr4:186668800-186676200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr4:186669400-186670400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr4:186669400-186672400	Weak transcription	Liver	Liver
34	chr4:186669600-186670600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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