Variant report

Variant	rs547654
Chromosome Location	chr11:58459989-58459990
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 132 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10792184	0.83[JPT][hapmap]
rs10792185	0.83[JPT][hapmap]
rs10896818	0.80[AMR][1000 genomes]
rs10896825	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs10896854	0.81[JPT][hapmap]
rs10896856	0.83[JPT][hapmap]
rs10896857	0.82[JPT][hapmap]
rs10896858	0.83[JPT][hapmap]
rs10896859	0.83[JPT][hapmap]
rs11229578	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11229593	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11229594	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11229595	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11229596	0.86[AMR][1000 genomes]
rs11229597	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11229601	0.80[AMR][1000 genomes]
rs11229602	0.80[AMR][1000 genomes]
rs11229651	0.82[JPT][hapmap]
rs11229655	0.82[JPT][hapmap]
rs11229656	0.83[JPT][hapmap]
rs11229658	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs11530801	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12225778	0.82[JPT][hapmap]
rs17152916	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17153009	0.82[JPT][hapmap]
rs1938695	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1938696	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1938698	0.82[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1938701	0.83[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1938714	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs1938728	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1938730	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1941965	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1943280	0.82[JPT][hapmap]
rs1943281	0.83[JPT][hapmap]
rs1943282	0.83[JPT][hapmap]
rs2156346	0.83[JPT][hapmap]
rs2186414	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs2497372	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2497376	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2497377	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2497379	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs472569	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs473287	0.82[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs479854	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs483101	0.82[CHB][hapmap];0.87[JPT][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs487054	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs491849	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs492795	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4939226	0.83[JPT][hapmap]
rs4939230	0.83[JPT][hapmap]
rs4939231	0.82[JPT][hapmap]
rs507224	0.82[CHB][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs511772	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs521200	0.85[CHB][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs522568	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs524234	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs524516	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs528136	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs539567	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs542537	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs543032	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs547178	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs547895	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs550362	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs558274	0.82[CHB][hapmap];0.85[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs566084	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs570146	0.82[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs570244	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57121352	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs572006	0.83[CHB][hapmap];0.87[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs572856	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs590157	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs591121	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs591628	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs596847	0.82[CHB][hapmap];0.86[JPT][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs614561	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs616779	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs621137	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs621780	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs628124	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs631103	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs667445	0.83[CHB][hapmap];0.87[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs675423	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs675757	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs677988	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72925740	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72925778	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7951340	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:43 , 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	esv1804230	chr11:58457495-58461883	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv1804835	chr11:58457495-58461883	Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv1814849	chr11:58457495-58461883	Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv21046	chr11:58457501-58461931	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv2528872	chr11:58457527-58462806	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv2000793	chr11:58457838-58462087	Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv514626	chr11:58457848-58461508	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv3461663	chr11:58457885-58461987	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv3523229	chr11:58457911-58462033	Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv3523228	chr11:58457929-58462014	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	esv3523224	chr11:58457933-58461961	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	esv3461685	chr11:58457938-58462002	Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	esv3461696	chr11:58457950-58461997	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	esv3461674	chr11:58457954-58461952	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	esv3523225	chr11:58457964-58461971	Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
24	esv3461707	chr11:58458021-58461925	Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
25	esv3523231	chr11:58458021-58461925	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
26	esv2497854	chr11:58459125-58461236	Flanking Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
27	nsv516321	chr11:58459236-58460073	Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
28	esv2421991	chr11:58459236-58460726	Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
29	esv1804940	chr11:58459236-58461014	Flanking Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
30	esv1811401	chr11:58459236-58461014	Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
31	esv1810483	chr11:58459236-58461740	Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
32	esv1806051	chr11:58459236-58461883	Flanking Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
33	esv1806780	chr11:58459236-58461883	Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
34	esv1807201	chr11:58459236-58461883	Flanking Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
35	esv1807466	chr11:58459236-58461883	Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
36	esv1810268	chr11:58459236-58461883	Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
37	esv1810561	chr11:58459236-58461883	Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
38	esv1810971	chr11:58459236-58461883	Flanking Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
39	esv1811462	chr11:58459236-58461883	Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
40	esv1812372	chr11:58459236-58461883	Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
41	esv1805674	chr11:58459339-58461014	Flanking Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
42	esv1814867	chr11:58459339-58461883	Flanking Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
43	esv1810857	chr11:58459339-58461978	Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58457200-58461600	Enhancers	Primary hematopoietic stem cells	blood
2	chr11:58457800-58461200	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr11:58459400-58460000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr11:58459600-58460000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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