Variant report

Variant	rs547178
Chromosome Location	chr11:58493204-58493205
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	chr11:58488336..58491210-chr11:58491852..58494782,2	K562	blood:
2	chr11:58492036..58493774-chr11:58500571..58503538,2	K562	blood:

Extended variants
information (count: 136 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:134)

rs_ID	r²[population]
rs1014068	0.88[AMR][1000 genomes]
rs10792181	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10792183	0.88[AMR][1000 genomes]
rs10792184	0.88[AMR][1000 genomes]
rs10792185	0.88[AMR][1000 genomes]
rs10896825	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10896828	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10896830	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10896832	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10896845	0.88[AMR][1000 genomes]
rs10896847	0.88[AMR][1000 genomes]
rs10896848	0.88[AMR][1000 genomes]
rs10896849	0.88[AMR][1000 genomes]
rs10896851	0.88[AMR][1000 genomes]
rs10896852	0.88[AMR][1000 genomes]
rs10896853	0.88[AMR][1000 genomes]
rs10896854	0.88[AMR][1000 genomes]
rs10896856	0.88[AMR][1000 genomes]
rs10896857	0.85[AMR][1000 genomes]
rs10896858	0.88[AMR][1000 genomes]
rs10896859	0.86[AMR][1000 genomes]
rs11229594	0.87[AFR][1000 genomes]
rs11229597	0.85[AFR][1000 genomes]
rs11229625	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11229626	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11229629	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11229649	0.88[AMR][1000 genomes]
rs11229650	0.88[AMR][1000 genomes]
rs11229651	0.88[AMR][1000 genomes]
rs11229653	0.88[AMR][1000 genomes]
rs11229655	0.88[AMR][1000 genomes]
rs11229656	0.88[AMR][1000 genomes]
rs11229657	0.86[AMR][1000 genomes]
rs11229658	0.88[AMR][1000 genomes]
rs11535770	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12146504	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12146511	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12224097	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12224475	0.88[AMR][1000 genomes]
rs12225778	0.88[AMR][1000 genomes]
rs12419236	0.88[AMR][1000 genomes]
rs1893631	0.88[AMR][1000 genomes]
rs1893632	0.85[AMR][1000 genomes]
rs1938695	0.88[AFR][1000 genomes]
rs1938696	0.88[AFR][1000 genomes]
rs1938698	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1938701	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1938708	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1938709	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1938711	0.86[ASN][1000 genomes]
rs1938714	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1938715	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1938716	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1938728	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1941965	0.88[AFR][1000 genomes]
rs1943254	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1943258	0.84[ASN][1000 genomes]
rs1943262	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1943263	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1943272	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1943276	0.88[AMR][1000 genomes]
rs1943280	0.88[AMR][1000 genomes]
rs1943281	0.88[AMR][1000 genomes]
rs1943282	0.88[AMR][1000 genomes]
rs1943303	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1943307	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1943308	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1962553	0.85[AMR][1000 genomes]
rs2097018	0.88[AMR][1000 genomes]
rs2097019	0.88[AMR][1000 genomes]
rs2156346	0.88[AMR][1000 genomes]
rs2187264	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2212845	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2497368	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2497372	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2497376	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2497377	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2497379	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs472569	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs473287	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs479854	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs483101	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs487054	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs491849	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs492795	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4939220	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4939222	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4939226	0.88[AMR][1000 genomes]
rs4939227	0.88[AMR][1000 genomes]
rs4939228	0.88[AMR][1000 genomes]
rs4939229	0.86[AMR][1000 genomes]
rs4939230	0.88[AMR][1000 genomes]
rs4939231	0.88[AMR][1000 genomes]
rs507224	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs511772	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs521200	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs522568	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs524234	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs524516	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs528136	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs539567	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs542537	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs543032	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs547654	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs547895	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs550362	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs558274	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56383501	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs56407726	0.85[AMR][1000 genomes]
rs566084	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs570146	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs570244	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs572006	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs572856	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58504618	0.88[AMR][1000 genomes]
rs590157	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs591121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs591628	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs596847	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs614561	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs616779	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs621137	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs621780	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs628124	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs631103	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs667445	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs675423	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs675757	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs677988	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7119206	0.84[ASN][1000 genomes]
rs72929706	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs72929752	0.88[AMR][1000 genomes]
rs9888240	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9943656	0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58492800-58495000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr11:58492800-58495400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr11:58492800-58496800	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr11:58493000-58493800	Flanking Active TSS	Liver	Liver
5	chr11:58493000-58494600	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr11:58493000-58494800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr11:58493000-58494800	Enhancers	Adipose Nuclei	Adipose
8	chr11:58493000-58498200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr11:58493200-58493800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr11:58493200-58494000	Enhancers	Fetal Lung	lung
11	chr11:58493200-58494400	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr11:58493200-58495000	Enhancers	Fetal Kidney	kidney
13	chr11:58493200-58495200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr11:58493200-58495400	Enhancers	Fetal Intestine Large	intestine
15	chr11:58493200-58496000	Enhancers	Primary T cells fromperipheralblood	blood

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