Variant report

Variant	rs472569
Chromosome Location	chr11:58461978-58461979
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	chr11:58455564..58457856-chr11:58460321..58462093,2	K562	blood:

Extended variants
information (count: 121 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs10792181	0.84[ASN][1000 genomes]
rs10792184	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]
rs10792185	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]
rs10896825	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.91[TSI][hapmap];0.84[ASN][1000 genomes]
rs10896828	0.83[ASN][1000 genomes]
rs10896830	0.83[ASN][1000 genomes]
rs10896832	0.83[ASN][1000 genomes]
rs10896854	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs10896856	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs10896857	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs10896858	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]
rs10896859	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]
rs11229625	0.83[ASN][1000 genomes]
rs11229626	0.84[ASN][1000 genomes]
rs11229629	0.83[ASN][1000 genomes]
rs11229651	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.93[MEX][hapmap];0.91[TSI][hapmap]
rs11229655	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.91[TSI][hapmap]
rs11229656	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs11229658	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]
rs11535770	0.83[ASN][1000 genomes]
rs12146504	0.83[ASN][1000 genomes]
rs12146511	0.83[ASN][1000 genomes]
rs12224097	0.82[ASN][1000 genomes]
rs12225778	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs17153009	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs1938698	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1938701	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1938708	0.85[ASN][1000 genomes]
rs1938709	0.85[ASN][1000 genomes]
rs1938711	0.85[ASN][1000 genomes]
rs1938714	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs1938715	0.85[ASN][1000 genomes]
rs1938716	0.86[ASN][1000 genomes]
rs1938728	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1943254	0.83[ASN][1000 genomes]
rs1943258	0.83[ASN][1000 genomes]
rs1943262	0.83[ASN][1000 genomes]
rs1943263	0.83[ASN][1000 genomes]
rs1943272	0.84[ASN][1000 genomes]
rs1943280	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.87[TSI][hapmap]
rs1943281	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs1943282	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs1943303	0.83[ASN][1000 genomes]
rs1943307	0.83[ASN][1000 genomes]
rs1943308	0.83[ASN][1000 genomes]
rs2156346	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs2186414	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs2187264	0.84[ASN][1000 genomes]
rs2212845	0.83[ASN][1000 genomes]
rs2497368	0.85[ASN][1000 genomes]
rs2497372	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2497376	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2497377	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2497379	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs473287	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs479854	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs483101	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs487054	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs491849	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs492795	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4939220	0.85[ASN][1000 genomes]
rs4939222	0.83[ASN][1000 genomes]
rs4939226	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs4939229	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.94[MEX][hapmap];0.86[TSI][hapmap]
rs4939230	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs4939231	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.82[TSI][hapmap]
rs507224	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs511772	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs521200	0.82[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs522568	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs524234	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs524516	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs528136	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs539567	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs542537	0.82[CHB][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs543032	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs547178	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs547654	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs547895	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs550362	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs558274	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56383501	0.84[ASN][1000 genomes]
rs566084	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs570146	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs570244	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs572006	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs572856	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs590157	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs591121	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs591628	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs596847	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs614561	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs616779	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs621137	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs621780	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs628124	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs631103	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs667445	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs675423	0.82[CHB][hapmap];0.83[GIH][hapmap];0.86[JPT][hapmap];0.88[MEX][hapmap];0.82[TSI][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs675757	0.82[CHB][hapmap];0.83[GIH][hapmap];0.86[JPT][hapmap];0.88[MEX][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs677988	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs679625	0.84[CEU][hapmap]
rs7119206	0.84[ASN][1000 genomes]
rs72929706	0.84[ASN][1000 genomes]
rs9888240	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	nsv329	chr11:58451044-58478290	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
4	esv3523226	chr11:58456322-58462676	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3461652	chr11:58456376-58462674	Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv3523227	chr11:58456926-58463724	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3488022	chr11:58457326-58463874	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3488023	chr11:58457326-58463874	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv2528872	chr11:58457527-58462806	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv2000793	chr11:58457838-58462087	Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv3461663	chr11:58457885-58461987	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv3523229	chr11:58457911-58462033	Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv3523228	chr11:58457929-58462014	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv3461685	chr11:58457938-58462002	Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv3461696	chr11:58457950-58461997	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv1810857	chr11:58459339-58461978	Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58460000-58462000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr11:58460800-58462200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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