Variant report

Variant	rs57365434
Chromosome Location	chr11:3989890-3989891
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	chr11:3906079..3908316-chr11:3988710..3990857,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11821399	1.00[AMR][1000 genomes]
rs11823158	0.85[AMR][1000 genomes]
rs11827535	0.85[AMR][1000 genomes]
rs11827750	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11827795	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2167562	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2412336	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57282641	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57292382	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58151848	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58461583	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59108256	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59178256	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59580400	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59842937	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59973839	0.85[AMR][1000 genomes]
rs60110100	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60462758	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61225070	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61355819	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61589687	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6578420	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6578421	1.00[EUR][1000 genomes]
rs6578435	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66596383	0.82[AFR][1000 genomes]
rs7109227	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7114373	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7117657	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7122796	1.00[AMR][1000 genomes]
rs7123124	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7128522	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72555753	1.00[EUR][1000 genomes]
rs7924332	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7926343	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7931280	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7938706	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7938862	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7939086	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7939090	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7940292	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7940511	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7942028	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7942271	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7943217	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7949898	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs894456	1.00[AMR][1000 genomes];1.00[EUR][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	nsv1052744	chr11:3739162-4017601	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1047025	chr11:3750969-4017601	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv1046065	chr11:3808818-4049150	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv540909	chr11:3808818-4049150	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3961200-4002000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:3973200-3993200	Weak transcription	Colon Smooth Muscle	Colon
3	chr11:3973200-4008400	Weak transcription	Fetal Lung	lung
4	chr11:3973600-3993800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr11:3975000-4006000	Weak transcription	Right Ventricle	heart
6	chr11:3980600-3994200	Weak transcription	Fetal Stomach	stomach
7	chr11:3981200-3990400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr11:3981600-3993000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr11:3981800-3990800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr11:3982000-3993200	Weak transcription	NHEK	skin
11	chr11:3982400-3994200	Weak transcription	Brain Anterior Caudate	brain
12	chr11:3982600-3992800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:3982600-3994000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:3982600-3994200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:3982600-4004400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:3982600-4005600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr11:3982600-4006000	Weak transcription	Left Ventricle	heart
18	chr11:3983600-3992000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr11:3984000-4010400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:3984400-3993000	Weak transcription	A549	lung
21	chr11:3984800-3991800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr11:3985000-3993000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:3985000-3993200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:3985000-4002400	Weak transcription	NHDF-Ad	bronchial
25	chr11:3985800-3993800	Weak transcription	HMEC	breast
26	chr11:3985800-4001200	Weak transcription	Small Intestine	intestine
27	chr11:3986000-4008000	Weak transcription	HepG2	liver
28	chr11:3987000-4010400	Weak transcription	Fetal Intestine Small	intestine
29	chr11:3987200-4001600	Weak transcription	Gastric	stomach
30	chr11:3987800-3993400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr11:3988000-4002400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr11:3988200-3990400	Strong transcription	Primary hematopoietic stem cells	blood
33	chr11:3988200-3990400	Weak transcription	Ovary	ovary
34	chr11:3988200-3991800	Genic enhancers	Primary T cells from cord blood	blood
35	chr11:3988200-3991800	Weak transcription	Fetal Intestine Large	intestine
36	chr11:3988200-4006200	Weak transcription	Pancreas	Pancrea
37	chr11:3988400-3991800	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr11:3988600-3990000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr11:3988600-3990000	Strong transcription	Adipose Nuclei	Adipose
40	chr11:3988600-3990000	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr11:3988600-3990200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr11:3988600-3990400	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr11:3988600-3990400	Strong transcription	Stomach Smooth Muscle	stomach
44	chr11:3988600-3990600	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr11:3988600-3990600	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr11:3988600-3991200	Strong transcription	Primary B cells from peripheral blood	blood
47	chr11:3988600-3991600	Genic enhancers	Dnd41	blood
48	chr11:3988800-3990000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
49	chr11:3988800-3990200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr11:3988800-3990200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--

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