Variant report

Variant	rs539421608
Chromosome Location	chr2:58388844-58388845
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525988	chr2:58161520-58427786	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv999042	chr2:58326123-58530903	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv535734	chr2:58326123-58530903	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1007527	chr2:58386271-58477536	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv535735	chr2:58386271-58477536	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv458052	chr2:58388696-58450569	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv582098	chr2:58388696-58450569	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58315200-58389600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr2:58349000-58421200	Weak transcription	Brain Substantia Nigra	brain
3	chr2:58358200-58393800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr2:58358400-58389000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr2:58359000-58391400	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:58359000-58399000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:58359000-58454000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr2:58359200-58395200	Weak transcription	Fetal Stomach	stomach
9	chr2:58359200-58399200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:58359400-58389400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr2:58359800-58392000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:58363400-58399000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:58363600-58406800	Weak transcription	Brain Hippocampus Middle	brain
14	chr2:58365200-58390000	Weak transcription	Psoas Muscle	Psoas
15	chr2:58365600-58438000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr2:58368200-58403000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:58368200-58417000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:58368600-58399000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:58373800-58389600	Weak transcription	Thymus	Thymus
20	chr2:58374000-58389400	Weak transcription	Right Ventricle	heart
21	chr2:58374400-58393400	Weak transcription	NHEK	skin
22	chr2:58374400-58397400	Weak transcription	Fetal Heart	heart
23	chr2:58379800-58389400	Strong transcription	Primary B cells from cord blood	blood
24	chr2:58380800-58398800	Weak transcription	Spleen	Spleen
25	chr2:58381000-58398800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:58381200-58391600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr2:58381800-58390000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr2:58382200-58390200	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr2:58382200-58393200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:58382400-58389200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr2:58382400-58390000	Strong transcription	Adipose Nuclei	Adipose
32	chr2:58382400-58390200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:58382400-58390400	Strong transcription	Fetal Intestine Large	intestine
34	chr2:58382400-58391800	Strong transcription	Dnd41	blood
35	chr2:58382600-58390600	Strong transcription	Liver	Liver
36	chr2:58382600-58391400	Weak transcription	Brain Angular Gyrus	brain
37	chr2:58382600-58394000	Weak transcription	Fetal Brain Male	brain
38	chr2:58382600-58395400	Weak transcription	Pancreas	Pancrea
39	chr2:58382600-58395800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr2:58382600-58400200	Weak transcription	Brain Germinal Matrix	brain
41	chr2:58382600-58400400	Weak transcription	Gastric	stomach
42	chr2:58382800-58394400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr2:58382800-58395800	Weak transcription	Lung	lung
44	chr2:58382800-58398800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr2:58382800-58398800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr2:58382800-58399000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:58383000-58415600	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr2:58383200-58389600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr2:58383200-58391800	Weak transcription	Colon Smooth Muscle	Colon
50	chr2:58383200-58398800	Weak transcription	Esophagus	oesophagus

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