Variant report

Variant	rs7654366
Chromosome Location	chr4:186670339-186670340
allele	A/G
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:
2	chr4:186663357..186665698-chr4:186670283..186673079,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10000785	0.92[YRI][hapmap]
rs10027307	0.90[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10027404	0.90[CEU][hapmap];0.92[YRI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12640727	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12640785	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12646825	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12649994	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28386838	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28521093	0.87[AMR][1000 genomes]
rs28526455	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28575175	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28682410	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28694150	0.86[AMR][1000 genomes]
rs28696141	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62334849	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62334851	0.81[AMR][1000 genomes]
rs62334852	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62334854	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62334855	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62334857	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6857307	0.84[AMR][1000 genomes]
rs72703826	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7655720	0.90[CEU][hapmap];0.92[YRI][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7656170	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7680186	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7680806	0.92[AMR][1000 genomes];0.86[EUR][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:33 , 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	chr4:186660400-186678000	Weak transcription	HSMMtube	muscle
4	chr4:186660800-186676000	Weak transcription	HUVEC	blood vessel
5	chr4:186661400-186694600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr4:186661600-186672400	Weak transcription	Fetal Kidney	kidney
7	chr4:186662200-186674000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:186662200-186675800	Weak transcription	Lung	lung
9	chr4:186662200-186688800	Weak transcription	Aorta	Aorta
10	chr4:186664200-186670800	Weak transcription	Colon Smooth Muscle	Colon
11	chr4:186664200-186675800	Weak transcription	Stomach Mucosa	stomach
12	chr4:186664800-186670600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr4:186664800-186671000	Weak transcription	GM12878-XiMat	blood
14	chr4:186664800-186693400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr4:186665200-186682600	Weak transcription	HSMM	muscle
16	chr4:186665800-186670600	Enhancers	Right Ventricle	heart
17	chr4:186666400-186671000	Weak transcription	Pancreas	Pancrea
18	chr4:186666400-186679800	Weak transcription	HepG2	liver
19	chr4:186667200-186671600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr4:186667600-186691400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr4:186668400-186676000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:186668600-186671400	Enhancers	Fetal Heart	heart
23	chr4:186668800-186676000	Weak transcription	Fetal Intestine Small	intestine
24	chr4:186668800-186676200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr4:186669400-186670400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr4:186669400-186672400	Weak transcription	Liver	Liver
27	chr4:186669600-186670600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr4:186669800-186682400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr4:186670000-186682600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr4:186670200-186670400	Enhancers	Stomach Smooth Muscle	stomach
31	chr4:186670200-186670600	Enhancers	Right Atrium	heart
32	chr4:186670200-186671800	Genic enhancers	Left Ventricle	heart
33	chr4:186670200-186671800	Enhancers	Rectal Smooth Muscle	rectum

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