Variant report

Variant	rs13230061
Chromosome Location	chr7:111999987-111999988
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
ENSG00000226851	Chromatin interaction
ENSG00000198839	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10238141	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs10272126	0.89[CEU][hapmap]
rs10272188	0.80[CEU][hapmap]
rs10953708	0.88[CEU][hapmap];1.00[JPT][hapmap]
rs10953709	0.82[EUR][1000 genomes]
rs10953710	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs10953711	0.91[CEU][hapmap];0.95[EUR][1000 genomes]
rs11760599	0.81[AMR][1000 genomes]
rs11761567	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11761807	0.89[CEU][hapmap]
rs11763356	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11763588	0.89[CEU][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11763768	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11768608	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs11769219	0.89[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11770767	0.91[CEU][hapmap];0.90[JPT][hapmap]
rs11773393	0.91[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12666911	0.83[ASN][1000 genomes]
rs12673259	1.00[CEU][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs16873374	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs17159389	0.89[CEU][hapmap]
rs17159446	0.89[CEU][hapmap];0.88[YRI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1985929	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2301725	0.88[EUR][1000 genomes]
rs2396536	0.89[CEU][hapmap]
rs2520471	0.83[ASN][1000 genomes]
rs2520473	1.00[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs2520476	0.89[JPT][hapmap]
rs2523029	0.90[ASN][1000 genomes]
rs2523030	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2523035	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2523037	0.94[ASN][1000 genomes]
rs2523038	0.94[ASN][1000 genomes]
rs2523039	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2523041	0.94[ASN][1000 genomes]
rs2708588	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2708590	0.90[ASN][1000 genomes]
rs2708592	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2708594	0.87[ASN][1000 genomes]
rs2708595	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2708597	1.00[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs2708598	0.83[ASN][1000 genomes]
rs2708603	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2708604	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2708605	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3109114	0.89[CEU][hapmap]
rs34171150	0.87[ASN][1000 genomes]
rs3807884	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs3823515	0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs41281063	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4464880	0.91[CEU][hapmap]
rs4730516	1.00[JPT][hapmap]
rs4730529	0.81[JPT][hapmap]
rs55662318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56299150	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56675883	0.82[EUR][1000 genomes]
rs56969420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60445595	0.81[EUR][1000 genomes]
rs6955231	0.91[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6955623	0.87[EUR][1000 genomes]
rs6978927	0.89[CEU][hapmap];0.95[EUR][1000 genomes]
rs735150	0.90[JPT][hapmap]
rs757196	0.89[CEU][hapmap]
rs7781245	1.00[JPT][hapmap]
rs7795336	0.91[CEU][hapmap];1.00[JPT][hapmap]
rs886353	0.81[JPT][hapmap]
rs9641480	1.00[JPT][hapmap]

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	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

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111966600-112000800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:111983800-112004600	Weak transcription	Pancreas	Pancrea
3	chr7:111987800-112000800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:111995800-112000800	Weak transcription	Aorta	Aorta
5	chr7:111998600-112006600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr7:111999000-112000600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr7:111999000-112000600	Weak transcription	HepG2	liver
8	chr7:111999600-112010800	Weak transcription	Right Atrium	heart
9	chr7:111999800-112002600	Weak transcription	Fetal Brain Male	brain

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