Variant report

Variant	rs530908972
Chromosome Location	chr2:114015611-114015612
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508162	chr2:113983043-114099966	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	esv3509221	chr2:114014023-114016282	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
3	esv3509222	chr2:114014023-114016282	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
4	nsv535895	chr2:114015492-114037018	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113998200-114020600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr2:113999600-114016400	Weak transcription	Fetal Stomach	stomach
3	chr2:113999600-114028400	Weak transcription	Ovary	ovary
4	chr2:114006600-114016200	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr2:114006600-114016200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr2:114006800-114015800	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr2:114007200-114016800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:114008400-114016000	Enhancers	Primary T cells fromperipheralblood	blood
9	chr2:114009800-114019000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr2:114010000-114016200	Enhancers	Primary T cells from cord blood	blood
11	chr2:114010000-114016200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr2:114010200-114015800	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr2:114010200-114030400	Weak transcription	GM12878-XiMat	blood
14	chr2:114010400-114022400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:114011200-114016200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:114013000-114016400	Weak transcription	Dnd41	blood
17	chr2:114013200-114016200	Enhancers	HSMMtube	muscle
18	chr2:114013200-114016400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr2:114013200-114019600	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr2:114013400-114017600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:114013400-114018200	Weak transcription	Fetal Kidney	kidney
22	chr2:114013600-114016000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:114013600-114020000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:114013800-114016000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr2:114013800-114016200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr2:114013800-114016200	Enhancers	Psoas Muscle	Psoas
27	chr2:114013800-114016200	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr2:114013800-114019800	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr2:114014000-114018400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr2:114014400-114016600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:114014600-114016000	Weak transcription	Placenta	Placenta
32	chr2:114014800-114015800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:114014800-114015800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr2:114014800-114015800	Enhancers	Lung	lung
35	chr2:114014800-114015800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr2:114014800-114016200	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr2:114014800-114016400	Enhancers	Fetal Heart	heart
38	chr2:114015000-114016000	Enhancers	Primary hematopoietic stem cells	blood
39	chr2:114015000-114016200	Enhancers	Fetal Muscle Leg	muscle
40	chr2:114015200-114015800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr2:114015200-114015800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr2:114015200-114016000	Enhancers	A549	lung
43	chr2:114015200-114016800	Weak transcription	Adipose Nuclei	Adipose
44	chr2:114015200-114018600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr2:114015200-114022400	Weak transcription	Fetal Thymus	thymus
46	chr2:114015200-114022800	Weak transcription	Colon Smooth Muscle	Colon
47	chr2:114015400-114015800	Enhancers	Fetal Muscle Trunk	muscle
48	chr2:114015400-114016200	Enhancers	Left Ventricle	heart
49	chr2:114015400-114017200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:114015400-114018400	Weak transcription	Primary B cells from cord blood	blood

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