Variant report

Variant	rs74074518
Chromosome Location	chr13:49858058-49858059
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:49857451..49860311-chr13:49862385..49865236,2	MCF-7	breast:
2	chr13:49857967..49860546-chr13:49866178..49867693,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs56324393	1.00[AMR][1000 genomes]
rs57186245	1.00[AMR][1000 genomes]
rs58348334	1.00[AMR][1000 genomes]
rs58573539	1.00[AMR][1000 genomes]
rs58767585	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58769218	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59575421	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60206634	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61061843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61131788	1.00[AMR][1000 genomes]
rs61198714	1.00[AMR][1000 genomes]
rs61242896	1.00[AMR][1000 genomes]
rs7358925	1.00[AMR][1000 genomes]
rs74072778	1.00[AMR][1000 genomes]
rs74072779	1.00[AMR][1000 genomes]
rs74072780	1.00[AMR][1000 genomes]
rs74072788	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74072797	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74074513	1.00[AMR][1000 genomes]
rs74074516	1.00[AMR][1000 genomes]
rs74074539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv832607	chr13:49756458-49920894	Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv900069	chr13:49815405-49976393	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49826600-49877800	Weak transcription	Psoas Muscle	Psoas
2	chr13:49832800-49860600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr13:49832800-49862800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr13:49833000-49865600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr13:49833200-49863800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr13:49833200-49866600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr13:49834200-49875200	Weak transcription	Gastric	stomach
8	chr13:49834600-49867000	Weak transcription	Thymus	Thymus
9	chr13:49834800-49873000	Weak transcription	HMEC	breast
10	chr13:49834800-49875400	Weak transcription	Esophagus	oesophagus
11	chr13:49835400-49862200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr13:49835600-49866800	Weak transcription	Brain Angular Gyrus	brain
13	chr13:49835600-49866800	Weak transcription	Brain Germinal Matrix	brain
14	chr13:49835600-49867000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr13:49835600-49867000	Weak transcription	Fetal Brain Male	brain
16	chr13:49835800-49863600	Weak transcription	Right Ventricle	heart
17	chr13:49835800-49875200	Weak transcription	Primary B cells from peripheral blood	blood
18	chr13:49835800-49875200	Weak transcription	GM12878-XiMat	blood
19	chr13:49836000-49866800	Weak transcription	Colon Smooth Muscle	Colon
20	chr13:49836200-49866800	Weak transcription	Brain Substantia Nigra	brain
21	chr13:49836600-49866800	Weak transcription	Brain Anterior Caudate	brain
22	chr13:49836600-49867000	Weak transcription	Primary B cells from cord blood	blood
23	chr13:49836600-49867000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr13:49837600-49858800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr13:49837800-49866600	Weak transcription	Fetal Lung	lung
26	chr13:49838600-49875400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr13:49842600-49866800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr13:49842600-49874600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr13:49842800-49866800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr13:49842800-49869400	Weak transcription	Lung	lung
31	chr13:49842800-49875200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr13:49842800-49875400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr13:49842800-49875400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr13:49846800-49866800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr13:49848000-49862200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr13:49848000-49873800	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr13:49853000-49865000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr13:49853200-49867000	Weak transcription	Fetal Thymus	thymus
39	chr13:49853400-49866800	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr13:49853800-49866800	Weak transcription	Adipose Nuclei	Adipose
41	chr13:49853800-49867000	Weak transcription	Brain Hippocampus Middle	brain
42	chr13:49853800-49875400	Weak transcription	Primary T cells from cord blood	blood
43	chr13:49853800-49875400	Weak transcription	Fetal Intestine Large	intestine
44	chr13:49854000-49863600	Weak transcription	Aorta	Aorta
45	chr13:49854000-49866800	Weak transcription	Ovary	ovary
46	chr13:49854000-49871400	Weak transcription	Spleen	Spleen
47	chr13:49854000-49875000	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr13:49854000-49875200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr13:49854000-49875200	Weak transcription	Duodenum Mucosa	Duodenum
50	chr13:49854000-49877600	Weak transcription	Left Ventricle	heart

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