Variant report

Variant	rs1943254
Chromosome Location	chr11:58572797-58572798
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:58567691..58569634-chr11:58571935..58573618,2	K562	blood:

Extended variants
information (count: 138 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:131)

rs_ID	r²[population]
rs1014068	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10792181	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10792183	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10792184	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.94[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10792185	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.94[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10896825	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10896828	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896830	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896832	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896845	0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10896847	0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10896848	0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10896849	0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10896851	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10896852	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10896853	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10896854	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10896856	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.94[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10896857	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.92[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10896858	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.94[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10896859	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11229625	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11229626	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11229629	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229649	0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11229650	0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11229651	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11229653	0.94[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11229655	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11229656	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11229657	0.93[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11229658	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11229661	0.82[AMR][1000 genomes]
rs11535770	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12146504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12146511	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12223073	0.86[YRI][hapmap];0.82[AMR][1000 genomes]
rs12224097	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12224475	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12225778	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12419236	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17153009	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs1893631	0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1893632	0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1938698	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs1938701	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1938708	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1938709	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1938711	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1938714	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1938715	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1938716	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1938728	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1943258	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1943262	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1943263	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1943267	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1943268	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1943270	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1943271	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1943272	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1943276	0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1943280	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1943281	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1943282	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1943303	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1943307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1943308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1962553	0.92[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2097018	0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2097019	0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2156346	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2186414	0.82[CHB][hapmap];0.86[JPT][hapmap];0.84[YRI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2187264	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2212845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2497368	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2497372	0.93[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2497376	0.93[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2497377	0.81[AMR][1000 genomes]
rs2497379	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs472569	0.83[ASN][1000 genomes]
rs473287	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs479854	0.84[ASN][1000 genomes]
rs483101	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs487054	0.83[ASN][1000 genomes]
rs491849	0.83[ASN][1000 genomes]
rs4939220	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4939222	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4939226	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.94[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4939227	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4939228	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4939229	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4939230	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4939231	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs507224	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs521200	0.83[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs522568	0.84[ASN][1000 genomes]
rs524234	0.84[ASN][1000 genomes]
rs524516	0.83[ASN][1000 genomes]
rs528136	0.83[ASN][1000 genomes]
rs542537	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs543032	0.82[ASN][1000 genomes]
rs547178	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs547895	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs558274	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs56383501	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56407726	0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs566084	0.81[ASN][1000 genomes]
rs570146	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs570244	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs572006	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs58504618	0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs591121	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs591628	0.81[ASN][1000 genomes]
rs596847	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs621137	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs621780	0.83[ASN][1000 genomes]
rs628124	0.84[ASN][1000 genomes]
rs631103	0.83[ASN][1000 genomes]
rs667445	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs675423	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs675757	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs677988	0.83[ASN][1000 genomes]
rs679625	0.84[CEU][hapmap]
rs7104137	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7115145	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7119206	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72929706	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72929752	0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9888240	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9943656	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58571600-58573200	Enhancers	Muscle Satellite Cultured Cells	--
2	chr11:58571800-58573200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr11:58571800-58573600	Enhancers	HMEC	breast
4	chr11:58572000-58573200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:58572000-58573400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:58572000-58573400	Enhancers	NHEK	skin
7	chr11:58572000-58573600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:58572200-58573000	Enhancers	Osteobl	bone
9	chr11:58572600-58573000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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