Variant report

Variant	rs3024845
Chromosome Location	chr2:191931129-191931130
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs16833146	1.00[CEU][hapmap]
rs56326388	1.00[AMR][1000 genomes]
rs61705630	1.00[AMR][1000 genomes]
rs73980006	1.00[AMR][1000 genomes]
rs73980039	1.00[AMR][1000 genomes]

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	nsv834493	chr2:191811373-191974240	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv998232	chr2:191841497-192020361	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191915000-191931200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:191916800-191938600	Weak transcription	Placenta	Placenta
3	chr2:191917600-191931200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:191917600-191931200	Weak transcription	Fetal Lung	lung
5	chr2:191917800-191935600	Weak transcription	Fetal Heart	heart
6	chr2:191918400-191939000	Weak transcription	Liver	Liver
7	chr2:191924600-191931200	Weak transcription	Aorta	Aorta
8	chr2:191929000-191931600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:191929400-191931400	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr2:191929400-191931400	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr2:191929800-191931600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
12	chr2:191929800-191933200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr2:191929800-191936800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr2:191930000-191932400	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr2:191930200-191936400	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr2:191930400-191931400	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr2:191930400-191931400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr2:191930400-191931600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:191930400-191931600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:191930400-191931600	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr2:191930400-191931600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:191930800-191931200	Active TSS	Primary T cells fromperipheralblood	blood
23	chr2:191930800-191931200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
24	chr2:191930800-191931200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr2:191930800-191931200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr2:191930800-191931200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:191930800-191931400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr2:191930800-191931400	Enhancers	NHDF-Ad	bronchial
29	chr2:191930800-191931600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:191930800-191931600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr2:191931000-191931200	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr2:191931000-191931200	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr2:191931000-191931400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
34	chr2:191931000-191931400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
35	chr2:191931000-191931400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr2:191931000-191931400	Enhancers	Fetal Thymus	thymus
37	chr2:191931000-191931400	Enhancers	Psoas Muscle	Psoas
38	chr2:191931000-191931400	Enhancers	Osteobl	bone
39	chr2:191931000-191931600	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr2:191931000-191931600	Enhancers	Adipose Nuclei	Adipose
41	chr2:191931000-191931600	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr2:191931000-191931800	Enhancers	A549	lung
43	chr2:191931000-191932600	Flanking Active TSS	Dnd41	blood

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