Variant report

Variant	rs5749499
Chromosome Location	chr22:33120220-33120221
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs5754232	1.00[CHB][hapmap]
rs743743	1.00[CHB][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	nsv1064719	chr22:33028891-33159636	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv588897	chr22:33116314-33139230	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region	1 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	chr22:33112200-33121400	Enhancers	Fetal Thymus	thymus
2	chr22:33113000-33121600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr22:33113400-33120400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr22:33114400-33121400	Weak transcription	Colon Smooth Muscle	Colon
5	chr22:33114600-33121800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr22:33115800-33122200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr22:33116400-33120400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr22:33116400-33120600	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr22:33116600-33120400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr22:33116600-33120400	Enhancers	Osteobl	bone
11	chr22:33116600-33120800	Enhancers	Fetal Stomach	stomach
12	chr22:33116800-33120400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr22:33116800-33121600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr22:33116800-33121800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr22:33117200-33120600	Enhancers	HMEC	breast
16	chr22:33117400-33121000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr22:33117400-33124200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr22:33118000-33120400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr22:33118200-33120400	Enhancers	Spleen	Spleen
20	chr22:33118400-33120400	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr22:33118400-33120400	Enhancers	Fetal Muscle Leg	muscle
22	chr22:33118400-33120600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr22:33118400-33121200	Weak transcription	HepG2	liver
24	chr22:33118400-33121400	Enhancers	Primary hematopoietic stem cells	blood
25	chr22:33118600-33120400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr22:33118600-33120400	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr22:33118600-33120400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr22:33118600-33120400	Enhancers	HSMMtube	muscle
29	chr22:33118600-33120600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr22:33118600-33120600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr22:33118600-33121800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr22:33118800-33120400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr22:33118800-33120400	Enhancers	Primary T cells fromperipheralblood	blood
34	chr22:33118800-33120400	Enhancers	Stomach Smooth Muscle	stomach
35	chr22:33118800-33120600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr22:33118800-33121400	Enhancers	Adipose Nuclei	Adipose
37	chr22:33119000-33120400	Enhancers	NHLF	lung
38	chr22:33119000-33120600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr22:33119000-33120600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr22:33119000-33120600	Enhancers	Fetal Lung	lung
41	chr22:33119000-33120800	Enhancers	Duodenum Mucosa	Duodenum
42	chr22:33119000-33121200	Enhancers	Placenta	Placenta
43	chr22:33119000-33121800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr22:33119200-33120400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr22:33119200-33120400	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr22:33119200-33120400	Enhancers	Fetal Kidney	kidney
47	chr22:33119200-33120400	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr22:33119400-33120400	Enhancers	Primary B cells from peripheral blood	blood
49	chr22:33119400-33120400	Enhancers	Brain Angular Gyrus	brain
50	chr22:33119800-33121400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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