Variant report

Variant	rs7942028
Chromosome Location	chr11:4044316-4044317
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	chr11:4043182..4045170-chr11:4050934..4052579,2	K562	blood:
2	chr11:4040603..4045299-chr11:4047436..4050461,5	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11821399	1.00[AMR][1000 genomes]
rs11823158	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11827535	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11827750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11827795	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2167562	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2412336	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57282641	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57292382	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57365434	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58151848	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58461583	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59108256	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59178256	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59580400	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59842937	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59973839	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs60110100	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60462758	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61225070	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61355819	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61589687	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6578420	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6578421	1.00[EUR][1000 genomes]
rs6578435	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7109227	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7114373	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7117657	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7122796	1.00[AMR][1000 genomes]
rs7123124	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7128522	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72555753	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7924332	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7926343	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7931280	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7938706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7938862	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7939086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7939090	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7940292	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7940511	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7942271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7943217	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7949898	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs894456	0.92[AFR][1000 genomes];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	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
2	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
3	nsv896896	chr11:4010409-4185595	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1042719	chr11:4017541-4101609	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4020800-4045000	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr11:4021000-4044400	Weak transcription	Dnd41	blood
3	chr11:4030200-4044800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr11:4037200-4045000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr11:4038000-4044400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr11:4038000-4049400	Weak transcription	Spleen	Spleen
7	chr11:4038200-4048800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:4038200-4057200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr11:4038200-4065200	Weak transcription	Left Ventricle	heart
10	chr11:4038400-4045000	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr11:4038400-4045000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr11:4038400-4045400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr11:4038400-4045400	Weak transcription	Psoas Muscle	Psoas
14	chr11:4038400-4065400	Weak transcription	Esophagus	oesophagus
15	chr11:4038800-4044400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr11:4038800-4045000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr11:4038800-4045000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr11:4038800-4050000	Weak transcription	K562	blood
19	chr11:4039200-4045000	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr11:4039200-4056400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr11:4040200-4045000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:4040200-4045000	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr11:4040200-4046800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr11:4040200-4049600	Weak transcription	A549	lung
25	chr11:4040400-4045600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr11:4040400-4046200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:4040800-4045000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr11:4041000-4046600	Weak transcription	NHEK	skin
29	chr11:4041200-4046000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr11:4041400-4046200	Weak transcription	NHDF-Ad	bronchial
31	chr11:4041600-4045400	Weak transcription	Fetal Stomach	stomach
32	chr11:4041600-4046000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:4041600-4046800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr11:4041800-4054600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:4042000-4045000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr11:4042000-4046000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr11:4042000-4046000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:4042400-4044400	Enhancers	Placenta Amnion	Placenta Amnion
39	chr11:4042400-4044800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr11:4043000-4045600	Weak transcription	Fetal Lung	lung
41	chr11:4043200-4044800	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr11:4043200-4045000	Weak transcription	HepG2	liver
43	chr11:4043400-4044600	Strong transcription	Primary B cells from cord blood	blood
44	chr11:4043400-4045000	Weak transcription	Colonic Mucosa	Colon
45	chr11:4043400-4045000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr11:4043400-4047000	Strong transcription	Primary T cells from cord blood	blood
47	chr11:4043400-4051200	Weak transcription	Liver	Liver
48	chr11:4043600-4046400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr11:4043600-4046400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:4043600-4048000	Strong transcription	Thymus	Thymus

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