Variant report

Variant	rs10044993
Chromosome Location	chr5:58424440-58424441
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:58416156..58418689-chr5:58423401..58425784,2	K562	blood:

Extended variants
information (count: 2 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs16889276	1.00[CEU][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58418600-58424800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr5:58423200-58426400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:58423600-58424800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:58423600-58425200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:58423800-58424600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
6	chr5:58423800-58425000	Flanking Active TSS	A549	lung
7	chr5:58423800-58429400	Weak transcription	Aorta	Aorta
8	chr5:58424000-58424600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
9	chr5:58424000-58424600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:58424000-58424600	Enhancers	Brain Hippocampus Middle	brain
11	chr5:58424000-58424600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:58424000-58424600	Enhancers	Fetal Kidney	kidney
13	chr5:58424000-58424600	Enhancers	Fetal Lung	lung
14	chr5:58424000-58424600	Enhancers	Stomach Mucosa	stomach
15	chr5:58424000-58424800	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr5:58424000-58424800	Enhancers	Fetal Thymus	thymus
17	chr5:58424000-58424800	Enhancers	NHDF-Ad	bronchial
18	chr5:58424000-58425200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr5:58424000-58425200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr5:58424000-58425400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:58424000-58425400	Enhancers	Fetal Muscle Leg	muscle
22	chr5:58424000-58425600	Enhancers	Colon Smooth Muscle	Colon
23	chr5:58424000-58425800	Enhancers	Placenta Amnion	Placenta Amnion
24	chr5:58424000-58426400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr5:58424000-58426400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr5:58424000-58427200	Enhancers	Hela-S3	cervix
27	chr5:58424000-58439800	Weak transcription	Small Intestine	intestine
28	chr5:58424000-58447000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr5:58424200-58424600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr5:58424200-58424600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:58424200-58424600	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr5:58424200-58424600	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr5:58424200-58424600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr5:58424200-58424600	Enhancers	Rectal Smooth Muscle	rectum
35	chr5:58424200-58424600	Weak transcription	Right Atrium	heart
36	chr5:58424200-58424800	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr5:58424200-58424800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr5:58424200-58424800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr5:58424200-58424800	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr5:58424200-58424800	Enhancers	Thymus	Thymus
41	chr5:58424200-58424800	Enhancers	HSMM	muscle
42	chr5:58424200-58425000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr5:58424200-58425000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr5:58424200-58425000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr5:58424200-58425000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr5:58424200-58425000	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr5:58424200-58425000	Enhancers	Osteobl	bone
48	chr5:58424200-58426000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr5:58424200-58427200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr5:58424200-58427400	Enhancers	HUES64 Cell Line	embryonic stem cell

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