Variant report

Variant	rs1943267
Chromosome Location	chr11:58556370-58556371
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:58421175..58421959-chr11:58555571..58556541,3	MCF-7	breast:
2	chr11:58539643..58542298-chr11:58554397..58556445,2	K562	blood:
3	chr11:58344188..58345053-chr11:58555383..58556475,3	MCF-7	breast:
4	chr11:58420893..58422551-chr11:58555581..58556580,16	K562	blood:
5	chr11:58335090..58336072-chr11:58555654..58556534,3	K562	blood:
6	chr11:58344812..58347551-chr11:58552824..58556823,4	K562	blood:

Variant related genes	Relation type
ENSG00000255073	Chromatin interaction
ENSG00000110031	Chromatin interaction
ENSG00000186660	Chromatin interaction

Extended variants
information (count: 131 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs1014068	0.82[AMR][1000 genomes]
rs10792181	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10792183	0.82[AMR][1000 genomes]
rs10792184	0.82[AMR][1000 genomes]
rs10792185	0.82[AMR][1000 genomes]
rs10896822	0.81[AMR][1000 genomes]
rs10896825	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10896828	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10896830	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10896832	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10896845	0.82[AMR][1000 genomes]
rs10896847	0.82[AMR][1000 genomes]
rs10896848	0.82[AMR][1000 genomes]
rs10896849	0.82[AMR][1000 genomes]
rs10896851	0.82[AMR][1000 genomes]
rs10896852	0.82[AMR][1000 genomes]
rs10896853	0.82[AMR][1000 genomes]
rs10896854	0.82[AMR][1000 genomes]
rs10896856	0.82[AMR][1000 genomes]
rs10896858	0.82[AMR][1000 genomes]
rs10896859	0.81[AMR][1000 genomes]
rs11229603	0.81[AMR][1000 genomes]
rs11229612	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11229613	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11229617	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11229618	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11229620	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11229623	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11229625	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11229626	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11229629	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11229649	0.82[AMR][1000 genomes]
rs11229650	0.82[AMR][1000 genomes]
rs11229651	0.82[AMR][1000 genomes]
rs11229652	0.83[AMR][1000 genomes]
rs11229653	0.82[AMR][1000 genomes]
rs11229655	0.82[AMR][1000 genomes]
rs11229656	0.82[AMR][1000 genomes]
rs11229657	0.81[AMR][1000 genomes]
rs11229658	0.82[AMR][1000 genomes]
rs11229661	0.94[AMR][1000 genomes]
rs11229662	0.84[AMR][1000 genomes]
rs11535770	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12146504	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12146511	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12222236	0.83[AMR][1000 genomes]
rs12223073	0.94[AMR][1000 genomes]
rs12224097	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12224475	0.82[AMR][1000 genomes]
rs12225778	0.82[AMR][1000 genomes]
rs12226395	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12417075	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12419236	0.82[AMR][1000 genomes]
rs12420969	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12421060	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1893631	0.82[AMR][1000 genomes]
rs1893632	0.80[AMR][1000 genomes]
rs1938707	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1938708	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1938709	0.85[EUR][1000 genomes]
rs1938711	0.84[EUR][1000 genomes]
rs1938713	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1938714	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1938715	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1938716	0.83[EUR][1000 genomes]
rs1938717	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1943254	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1943258	0.83[EUR][1000 genomes]
rs1943262	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1943263	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1943268	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1943271	0.81[AFR][1000 genomes]
rs1943272	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1943276	0.82[AMR][1000 genomes]
rs1943277	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1943280	0.82[AMR][1000 genomes]
rs1943281	0.82[AMR][1000 genomes]
rs1943282	0.82[AMR][1000 genomes]
rs1943285	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1943303	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1943305	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1943307	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1943308	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1954965	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2097018	0.82[AMR][1000 genomes]
rs2097019	0.82[AMR][1000 genomes]
rs2105743	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2156346	0.82[AMR][1000 genomes]
rs2187264	0.85[EUR][1000 genomes]
rs2212845	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2497368	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2497372	0.81[AMR][1000 genomes]
rs2497376	0.81[AMR][1000 genomes]
rs35649133	0.81[AMR][1000 genomes]
rs3920943	0.81[AMR][1000 genomes]
rs4373954	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4418828	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4939220	0.85[EUR][1000 genomes]
rs4939222	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4939226	0.82[AMR][1000 genomes]
rs4939227	0.82[AMR][1000 genomes]
rs4939228	0.82[AMR][1000 genomes]
rs4939229	0.81[AMR][1000 genomes]
rs4939230	0.82[AMR][1000 genomes]
rs4939231	0.82[AMR][1000 genomes]
rs507224	0.81[AMR][1000 genomes]
rs55906811	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56000500	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56073415	0.81[AMR][1000 genomes]
rs56383501	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56407726	0.80[AMR][1000 genomes]
rs56699801	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58504618	0.82[AMR][1000 genomes]
rs60850183	0.84[AMR][1000 genomes]
rs7119206	0.83[EUR][1000 genomes]
rs72927728	0.81[AMR][1000 genomes]
rs72927767	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72929706	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72929752	0.82[AMR][1000 genomes]
rs72929757	0.84[AMR][1000 genomes]
rs9888240	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9943655	0.84[AMR][1000 genomes]
rs9943656	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832168	chr11:58394060-58564651	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1050013	chr11:58394598-59221090	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv948365	chr11:58515163-59156405	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv1048605	chr11:58534660-58672438	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1045858	chr11:58547772-58674568	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1052173	chr11:58553516-58678496	Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv523481	chr11:58553771-58632368	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv525355	chr11:58553771-58632368	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr11:58554000-58556400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr11:58554000-58556800	Enhancers	HMEC	breast
3	chr11:58554400-58556600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:58554400-58557000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:58554800-58556600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:58554800-58557200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr11:58555400-58556400	Enhancers	K562	blood
8	chr11:58555400-58559000	Enhancers	Fetal Intestine Large	intestine
9	chr11:58555800-58556400	Enhancers	Pancreas	Pancrea
10	chr11:58556200-58556400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr11:58556200-58556400	Flanking Active TSS	NHEK	skin

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