Variant report

Variant	rs55662318
Chromosome Location	chr7:112000873-112000874
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:111975573..111978614-chr7:111997499..112000995,3	K562	blood:
2	chr7:111990563..111992725-chr7:111998722..112000873,2	MCF-7	breast:
3	chr7:111995574..111997351-chr7:111999443..112001258,2	K562	blood:

Variant related genes	Relation type
ENSG00000198839	Chromatin interaction
ENSG00000226851	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10238141	0.82[ASN][1000 genomes]
rs10247876	0.82[ASN][1000 genomes]
rs10953708	0.82[ASN][1000 genomes]
rs10953709	0.83[EUR][1000 genomes]
rs10953710	0.83[EUR][1000 genomes]
rs10953711	0.96[EUR][1000 genomes]
rs11760599	0.81[AMR][1000 genomes]
rs11761567	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11763356	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11763588	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11763768	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11767115	0.83[ASN][1000 genomes]
rs11768608	0.82[ASN][1000 genomes]
rs11768793	0.82[ASN][1000 genomes]
rs11768891	0.82[ASN][1000 genomes]
rs11769219	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11773393	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12666261	0.82[ASN][1000 genomes]
rs12666911	0.87[ASN][1000 genomes]
rs12673259	0.87[ASN][1000 genomes]
rs12673830	0.82[ASN][1000 genomes]
rs13230061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17159446	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1985929	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2301725	0.89[EUR][1000 genomes]
rs2520471	0.87[ASN][1000 genomes]
rs2520473	0.87[ASN][1000 genomes]
rs2523029	0.94[ASN][1000 genomes]
rs2523030	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2523035	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2523037	0.98[ASN][1000 genomes]
rs2523038	0.98[ASN][1000 genomes]
rs2523039	0.98[ASN][1000 genomes]
rs2523041	0.98[ASN][1000 genomes]
rs2708588	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2708590	0.94[ASN][1000 genomes]
rs2708592	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2708594	0.91[ASN][1000 genomes]
rs2708595	0.97[ASN][1000 genomes]
rs2708597	0.87[ASN][1000 genomes]
rs2708598	0.87[ASN][1000 genomes]
rs2708603	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2708604	0.98[ASN][1000 genomes]
rs2708605	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34171150	0.91[ASN][1000 genomes]
rs3823515	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41281063	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55915049	0.80[ASN][1000 genomes]
rs56299150	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56675883	0.83[EUR][1000 genomes]
rs56969420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60445595	0.82[EUR][1000 genomes]
rs6955231	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6955623	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6978927	0.96[EUR][1000 genomes]
rs7795336	0.82[ASN][1000 genomes]
rs9641480	0.82[ASN][1000 genomes]
rs9641481	0.82[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	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
3	nsv1020212	chr7:111944370-112032596	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv831097	chr7:112000837-112113173	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111983800-112004600	Weak transcription	Pancreas	Pancrea
2	chr7:111998600-112006600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr7:111999600-112010800	Weak transcription	Right Atrium	heart
4	chr7:111999800-112002600	Weak transcription	Fetal Brain Male	brain
5	chr7:112000600-112001800	Enhancers	HMEC	breast
6	chr7:112000600-112002200	Enhancers	HepG2	liver
7	chr7:112000800-112001000	Enhancers	Aorta	Aorta
8	chr7:112000800-112001400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:112000800-112001400	Active TSS	Stomach Smooth Muscle	stomach
10	chr7:112000800-112001600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:112000800-112002200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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