Variant report

Variant	rs7686543
Chromosome Location	chr4:55707081-55707082
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr4:55706545-55707087	HCT-116	colon:	n/a	chr4:55706808-55706827
2	RAD21	chr4:55706555-55707730	SK-N-SH	brain:	n/a	chr4:55707345-55707354 chr4:55707339-55707358 chr4:55706808-55706827
3	CTCF	chr4:55706648-55707518	GM12878	blood:	n/a	chr4:55706810-55706828 chr4:55707336-55707357
4	RAD21	chr4:55707065-55707583	H1-hESC	embryonic stem cell:	n/a	chr4:55707345-55707354 chr4:55707339-55707358
5	RAD21	chr4:55707062-55707709	MCF-7	breast:	n/a	chr4:55707345-55707354 chr4:55707339-55707358

No.	Distal block	Cell Line	Cell type
1	chr4:55188829..55189372-chr4:55706928..55707723,2	MCF-7	breast:
2	chr4:55549430..55550445-chr4:55706754..55707711,7	MCF-7	breast:
3	chr4:55551469..55552431-chr4:55706923..55707730,2	MCF-7	breast:
4	chr4:55549261..55550394-chr4:55706621..55707808,6	MCF-7	breast:
5	chr4:55184800..55185406-chr4:55706810..55707325,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251256	TF binding region

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

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1123272	0.81[ASN][1000 genomes]
rs1497477	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17695485	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1948607	0.82[ASN][1000 genomes]
rs2055222	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2173228	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2646314	0.80[ASN][1000 genomes]
rs2646316	0.81[ASN][1000 genomes]
rs2646317	0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2646318	0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2646320	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2646351	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2646355	0.86[AMR][1000 genomes]
rs2646369	0.85[AMR][1000 genomes]
rs2726623	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2726626	0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2726627	0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2726628	0.88[AMR][1000 genomes]
rs2726629	0.81[ASN][1000 genomes]
rs2726630	0.81[ASN][1000 genomes]
rs2726631	0.86[ASN][1000 genomes]
rs2726632	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs28628137	0.85[AMR][1000 genomes]
rs4280801	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4345236	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs716919	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7662457	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7668976	0.83[AMR][1000 genomes]
rs7692346	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7697169	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs871692	0.86[ASN][1000 genomes]
rs871693	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs871694	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999400	chr4:55143598-55776995	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	esv3367952	chr4:55437113-55724644	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer 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	6 gene(s)	inside rSNPs	diseases
3	nsv526344	chr4:55522488-56231119	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv1836939	chr4:55701134-55716601	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55704000-55708400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:55704200-55707400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:55704200-55708600	Weak transcription	Fetal Lung	lung
4	chr4:55704400-55708400	Weak transcription	Brain Germinal Matrix	brain
5	chr4:55704600-55712600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:55705600-55711400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:55706000-55708600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr4:55706600-55707400	Enhancers	Brain Hippocampus Middle	brain
9	chr4:55706600-55709000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr4:55706800-55707200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:55706800-55707200	Enhancers	Brain Substantia Nigra	brain
12	chr4:55706800-55709000	Enhancers	Primary hematopoietic stem cells	blood
13	chr4:55706800-55709800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr4:55707000-55708000	Enhancers	Fetal Heart	heart
15	chr4:55707000-55708800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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