Variant report

Variant	rs10022052
Chromosome Location	chr4:54009844-54009845
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	chr4:53998244..54000352-chr4:54008582..54010279,2	K562	blood:
2	chr4:54007557..54010483-chr4:54011201..54014968,3	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10031065	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10033590	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17082563	0.86[ASW][hapmap]
rs28756271	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6829771	1.00[MEX][hapmap]

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	nsv1004889	chr4:53436500-54106281	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv537094	chr4:53436500-54106281	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 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	chr4:53986800-54010800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr4:53986800-54011000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr4:53987800-54016800	Weak transcription	NHLF	lung
4	chr4:53988600-54011000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr4:53989200-54010200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr4:53993800-54027800	Weak transcription	Fetal Stomach	stomach
7	chr4:53994000-54011000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr4:53995200-54014800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:53995400-54017800	Weak transcription	Brain Substantia Nigra	brain
10	chr4:53997000-54017600	Weak transcription	Gastric	stomach
11	chr4:53997400-54020000	Weak transcription	HSMM	muscle
12	chr4:53997800-54011000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr4:53998000-54010800	Weak transcription	Fetal Muscle Leg	muscle
14	chr4:53998000-54011000	Weak transcription	Left Ventricle	heart
15	chr4:53998400-54010200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:53998600-54014400	Weak transcription	Brain Hippocampus Middle	brain
17	chr4:53998800-54010400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:53999000-54010200	Weak transcription	Osteobl	bone
19	chr4:53999000-54011000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:53999000-54013200	Weak transcription	Brain Angular Gyrus	brain
21	chr4:53999000-54017200	Weak transcription	Fetal Lung	lung
22	chr4:53999000-54027800	Weak transcription	NHDF-Ad	bronchial
23	chr4:53999200-54011000	Weak transcription	Adipose Nuclei	Adipose
24	chr4:54001200-54017600	Weak transcription	Spleen	Spleen
25	chr4:54003400-54019000	Weak transcription	GM12878-XiMat	blood
26	chr4:54003600-54012800	Weak transcription	Esophagus	oesophagus
27	chr4:54004000-54017600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr4:54004200-54011000	Weak transcription	Pancreas	Pancrea
29	chr4:54004200-54020800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr4:54004200-54052200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr4:54005400-54010800	Weak transcription	Dnd41	blood
32	chr4:54005400-54012400	Weak transcription	HMEC	breast
33	chr4:54005600-54023600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr4:54005800-54012800	Weak transcription	Fetal Brain Female	brain
35	chr4:54006200-54010200	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr4:54006400-54010200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr4:54006600-54011000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr4:54006600-54011000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:54006600-54011000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr4:54006800-54010800	Weak transcription	Primary hematopoietic stem cells	blood
41	chr4:54007000-54017600	Weak transcription	Right Ventricle	heart
42	chr4:54007200-54030600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr4:54007600-54010000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr4:54008000-54010800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr4:54008000-54011600	Strong transcription	Primary B cells from cord blood	blood
46	chr4:54008200-54011000	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr4:54008200-54011000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr4:54008200-54017200	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr4:54008200-54017600	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr4:54008400-54013000	Weak transcription	Thymus	Thymus

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