Variant report

Variant	rs58634563
Chromosome Location	chr11:46592789-46592790
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:46592583..46594145-chr11:46596692..46598551,2	K562	blood:
2	chr11:46584966..46589742-chr11:46590333..46593915,5	K562	blood:
3	chr11:46584966..46587736-chr11:46591083..46593688,3	K562	blood:
4	chr11:46582398..46584015-chr11:46590707..46592802,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11038924	1.00[AMR][1000 genomes]
rs12099188	1.00[AMR][1000 genomes]
rs3136464	1.00[AMR][1000 genomes]
rs3136477	1.00[AMR][1000 genomes]
rs3136492	1.00[AMR][1000 genomes]
rs36017347	1.00[AMR][1000 genomes]
rs57328824	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57479473	1.00[AMR][1000 genomes]
rs57923752	1.00[AMR][1000 genomes]
rs59488332	1.00[AMR][1000 genomes]
rs59664414	1.00[AMR][1000 genomes]
rs60026983	1.00[AMR][1000 genomes]
rs60147143	1.00[AMR][1000 genomes]
rs73449906	1.00[AMR][1000 genomes]
rs73449908	1.00[AMR][1000 genomes]
rs73449917	1.00[AMR][1000 genomes]
rs73449920	1.00[AMR][1000 genomes]
rs73449937	1.00[AMR][1000 genomes]
rs73449939	1.00[AMR][1000 genomes]
rs73449943	1.00[AMR][1000 genomes]
rs73449949	1.00[AMR][1000 genomes]
rs73449951	1.00[AMR][1000 genomes]
rs73449956	1.00[AMR][1000 genomes]
rs73449974	1.00[AMR][1000 genomes]
rs73449985	1.00[AMR][1000 genomes]
rs73449986	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73450002	1.00[AMR][1000 genomes]
rs73451811	1.00[AMR][1000 genomes]
rs73451819	1.00[AMR][1000 genomes]
rs73451822	1.00[AMR][1000 genomes]
rs73451825	1.00[AMR][1000 genomes]
rs73451848	1.00[AMR][1000 genomes]
rs73451858	1.00[AMR][1000 genomes]
rs73451860	1.00[AMR][1000 genomes]
rs73451863	1.00[AMR][1000 genomes]
rs73451865	1.00[AMR][1000 genomes]
rs73451868	1.00[AMR][1000 genomes]
rs73451873	1.00[AMR][1000 genomes]
rs73451880	1.00[AMR][1000 genomes]
rs73451885	1.00[AMR][1000 genomes]
rs73451887	1.00[AMR][1000 genomes]
rs73451898	1.00[AMR][1000 genomes]
rs73451902	1.00[AMR][1000 genomes]
rs73454026	1.00[AMR][1000 genomes]
rs73454031	1.00[AMR][1000 genomes]
rs73454037	1.00[AMR][1000 genomes]
rs73454041	1.00[AMR][1000 genomes]
rs73454046	1.00[AMR][1000 genomes]
rs73454052	1.00[AMR][1000 genomes]
rs73454062	1.00[AMR][1000 genomes]
rs73467964	1.00[AMR][1000 genomes]
rs73467966	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1046990	chr11:46501436-46669636	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv541031	chr11:46501436-46669636	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv897321	chr11:46515902-46673344	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46568800-46611000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:46568800-46612600	Weak transcription	Brain Germinal Matrix	brain
3	chr11:46578000-46606200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:46579600-46596600	Weak transcription	Lung	lung
5	chr11:46579800-46596000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:46579800-46606600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr11:46582200-46593600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:46583000-46593000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr11:46583000-46609600	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr11:46583000-46613000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr11:46583200-46603800	Weak transcription	Right Atrium	heart
12	chr11:46583200-46606200	Weak transcription	K562	blood
13	chr11:46583200-46611800	Weak transcription	Thymus	Thymus
14	chr11:46583200-46612200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr11:46583200-46613800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr11:46583400-46596200	Weak transcription	Primary B cells from peripheral blood	blood
17	chr11:46583400-46597800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr11:46583400-46608400	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr11:46583600-46612400	Weak transcription	Primary B cells from cord blood	blood
20	chr11:46584000-46613600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr11:46584200-46596400	Weak transcription	Colon Smooth Muscle	Colon
22	chr11:46586600-46613800	Weak transcription	NH-A	brain
23	chr11:46586800-46593000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr11:46586800-46593600	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr11:46586800-46596200	Weak transcription	A549	lung
26	chr11:46587000-46596600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:46587000-46602200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr11:46587600-46596600	Weak transcription	Left Ventricle	heart
29	chr11:46587600-46598000	Weak transcription	Pancreas	Pancrea
30	chr11:46587600-46602000	Weak transcription	Hela-S3	cervix
31	chr11:46587800-46597800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr11:46587800-46613200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:46589000-46614000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr11:46589600-46598800	Weak transcription	Fetal Thymus	thymus
35	chr11:46589600-46609600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:46589600-46613000	Weak transcription	Fetal Muscle Leg	muscle
37	chr11:46589600-46613000	Weak transcription	Fetal Stomach	stomach
38	chr11:46589600-46614000	Weak transcription	Fetal Intestine Large	intestine
39	chr11:46589800-46599800	Weak transcription	Fetal Intestine Small	intestine
40	chr11:46591400-46611000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr11:46591800-46594200	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr11:46591800-46596000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:46591800-46612200	Weak transcription	Aorta	Aorta
44	chr11:46592000-46592800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr11:46592000-46593000	Enhancers	Brain Cingulate Gyrus	brain
46	chr11:46592000-46593000	Enhancers	HSMMtube	muscle
47	chr11:46592000-46593200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr11:46592000-46593200	Enhancers	Brain Angular Gyrus	brain
49	chr11:46592000-46593400	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr11:46592000-46593400	Enhancers	HepG2	liver

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