Variant report

Variant	rs1421596
Chromosome Location	chr2:50167986-50167987
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10166360	0.91[CEU][hapmap];0.85[EUR][1000 genomes]
rs2193869	0.87[CEU][hapmap];0.83[EUR][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	esv3388948	chr2:50092667-50602681	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3399511	chr2:50092687-50602651	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv934303	chr2:50145598-50412189	Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50141600-50175400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:50141600-50187400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:50163200-50171200	Weak transcription	Fetal Heart	heart
4	chr2:50163200-50175800	Weak transcription	Fetal Brain Female	brain
5	chr2:50164800-50172400	Weak transcription	Brain Germinal Matrix	brain
6	chr2:50166000-50169200	Weak transcription	Brain Angular Gyrus	brain
7	chr2:50167200-50168200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr2:50167600-50168000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:50167600-50168000	Enhancers	Fetal Intestine Large	intestine
10	chr2:50167600-50168400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:50167600-50168400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:50167600-50168400	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr2:50167600-50168400	Active TSS	HMEC	breast
14	chr2:50167600-50168400	Active TSS	NHEK	skin
15	chr2:50167600-50168600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:50167600-50168800	Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr2:50167600-50168800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:50167800-50168000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:50167800-50168000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr2:50167800-50168000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:50167800-50168000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
22	chr2:50167800-50168200	Active TSS	Primary monocytes fromperipheralblood	blood
23	chr2:50167800-50168200	Active TSS	Primary T cells from cord blood	blood
24	chr2:50167800-50168200	Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr2:50167800-50168200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr2:50167800-50168200	Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr2:50167800-50168200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr2:50167800-50168200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:50167800-50168200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
30	chr2:50167800-50168200	Active TSS	Liver	Liver
31	chr2:50167800-50168200	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr2:50167800-50168200	Active TSS	Fetal Stomach	stomach
33	chr2:50167800-50168200	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr2:50167800-50168200	Active TSS	HepG2	liver
35	chr2:50167800-50168400	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr2:50167800-50168400	Active TSS	Primary T cells fromperipheralblood	blood
37	chr2:50167800-50168400	Active TSS	Primary hematopoietic stem cells	blood
38	chr2:50167800-50168400	Active TSS	Adipose Nuclei	Adipose
39	chr2:50167800-50168400	Active TSS	Stomach Smooth Muscle	stomach
40	chr2:50167800-50168400	Active TSS	Thymus	Thymus
41	chr2:50167800-50168400	Active TSS	A549	lung
42	chr2:50167800-50168400	Flanking Active TSS	Dnd41	blood
43	chr2:50167800-50168400	Active TSS	GM12878-XiMat	blood
44	chr2:50167800-50168400	Active TSS	Hela-S3	cervix
45	chr2:50167800-50168400	Active TSS	Monocytes-CD14+_RO01746	blood

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