Variant report

Variant	rs4939220
Chromosome Location	chr11:58537678-58537679
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:58537258..58541361-chr11:58541719..58544001,4	K562	blood:
2	chr11:58534531..58540413-chr11:58541939..58546893,7	K562	blood:

Extended variants
information (count: 126 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:122)

rs_ID	r²[population]
rs1014068	0.84[ASN][1000 genomes]
rs10792181	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10792183	0.84[ASN][1000 genomes]
rs10792184	0.81[ASN][1000 genomes]
rs10792185	0.81[ASN][1000 genomes]
rs10896825	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10896828	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10896830	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10896832	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10896845	0.86[ASN][1000 genomes]
rs10896847	0.85[ASN][1000 genomes]
rs10896848	0.85[ASN][1000 genomes]
rs10896849	0.85[ASN][1000 genomes]
rs10896851	0.84[ASN][1000 genomes]
rs10896852	0.84[ASN][1000 genomes]
rs10896853	0.84[ASN][1000 genomes]
rs10896854	0.84[ASN][1000 genomes]
rs10896856	0.83[ASN][1000 genomes]
rs10896857	0.82[ASN][1000 genomes]
rs10896858	0.83[ASN][1000 genomes]
rs10896859	0.82[ASN][1000 genomes]
rs11229625	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11229626	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11229629	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11229649	0.86[ASN][1000 genomes]
rs11229650	0.85[ASN][1000 genomes]
rs11229651	0.85[ASN][1000 genomes]
rs11229653	0.83[ASN][1000 genomes]
rs11229655	0.84[ASN][1000 genomes]
rs11229656	0.84[ASN][1000 genomes]
rs11229657	0.84[ASN][1000 genomes]
rs11229658	0.84[ASN][1000 genomes]
rs11535770	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12146504	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12146511	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12224097	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12224475	0.84[ASN][1000 genomes]
rs12225778	0.84[ASN][1000 genomes]
rs12419236	0.84[ASN][1000 genomes]
rs1893631	0.86[ASN][1000 genomes]
rs1893632	0.86[ASN][1000 genomes]
rs1938698	0.86[ASN][1000 genomes]
rs1938701	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1938708	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1938709	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1938711	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1938714	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1938715	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1938716	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1938728	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1943254	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1943258	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1943262	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1943263	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1943267	0.85[EUR][1000 genomes]
rs1943268	0.85[EUR][1000 genomes]
rs1943270	0.83[EUR][1000 genomes]
rs1943271	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1943272	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1943276	0.86[ASN][1000 genomes]
rs1943280	0.84[ASN][1000 genomes]
rs1943281	0.84[ASN][1000 genomes]
rs1943282	0.84[ASN][1000 genomes]
rs1943303	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1943307	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1943308	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2097018	0.86[ASN][1000 genomes]
rs2097019	0.86[ASN][1000 genomes]
rs2156346	0.85[ASN][1000 genomes]
rs2186414	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2187264	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2212845	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2497368	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2497372	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2497376	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2497379	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs472569	0.85[ASN][1000 genomes]
rs473287	0.86[ASN][1000 genomes]
rs479854	0.86[ASN][1000 genomes]
rs483101	0.86[ASN][1000 genomes]
rs487054	0.85[ASN][1000 genomes]
rs491849	0.84[ASN][1000 genomes]
rs4939222	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4939226	0.83[ASN][1000 genomes]
rs4939227	0.84[ASN][1000 genomes]
rs4939228	0.84[ASN][1000 genomes]
rs4939229	0.84[ASN][1000 genomes]
rs4939230	0.84[ASN][1000 genomes]
rs4939231	0.84[ASN][1000 genomes]
rs507224	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs521200	0.86[ASN][1000 genomes]
rs522568	0.86[ASN][1000 genomes]
rs524234	0.86[ASN][1000 genomes]
rs524516	0.85[ASN][1000 genomes]
rs528136	0.85[ASN][1000 genomes]
rs543032	0.84[ASN][1000 genomes]
rs547178	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs547895	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs558274	0.86[ASN][1000 genomes]
rs56383501	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56407726	0.86[ASN][1000 genomes]
rs566084	0.81[ASN][1000 genomes]
rs570146	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs570244	0.86[ASN][1000 genomes]
rs572006	0.86[ASN][1000 genomes]
rs58504618	0.86[ASN][1000 genomes]
rs591121	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs591628	0.83[ASN][1000 genomes]
rs596847	0.86[ASN][1000 genomes]
rs621137	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs621780	0.85[ASN][1000 genomes]
rs628124	0.86[ASN][1000 genomes]
rs631103	0.84[ASN][1000 genomes]
rs667445	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs677988	0.85[ASN][1000 genomes]
rs7104137	0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7115145	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7119206	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72929706	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72929752	0.86[ASN][1000 genomes]
rs9888240	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9943656	0.84[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	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

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58531200-58538000	Weak transcription	Fetal Intestine Small	intestine
2	chr11:58536400-58537800	Weak transcription	Adipose Nuclei	Adipose
3	chr11:58536800-58538000	Weak transcription	HepG2	liver
4	chr11:58537400-58538800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr11:58537600-58538600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:58537600-58538800	Enhancers	NHDF-Ad	bronchial
7	chr11:58537600-58539200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:58537600-58539200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:58537600-58539600	Flanking Active TSS	Fetal Intestine Large	intestine
10	chr11:58537600-58539600	Enhancers	HMEC	breast
11	chr11:58537600-58539800	Enhancers	NHEK	skin
12	chr11:58537600-58540200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:58537600-58540200	Flanking Active TSS	K562	blood

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