Variant report

Variant	rs571741199
Chromosome Location	chr2:48756142-48756143
allele	G/T
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	nsv1005954	chr2:48692696-48905723	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv535682	chr2:48692696-48905723	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv833981	chr2:48705444-48878179	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1007491	chr2:48752185-48796441	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv535683	chr2:48752185-48796441	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv3390375	chr2:48755948-48758496	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv3359548	chr2:48756073-48758621	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48726400-48756800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:48728200-48756800	Weak transcription	HMEC	breast
3	chr2:48737800-48756200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:48738000-48756800	Weak transcription	NH-A	brain
5	chr2:48740000-48757600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr2:48742400-48756200	Weak transcription	NHDF-Ad	bronchial
7	chr2:48743200-48756200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:48743200-48756800	Weak transcription	Stomach Mucosa	stomach
9	chr2:48743400-48756200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr2:48743400-48756400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr2:48743400-48757400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr2:48743400-48757400	Weak transcription	Gastric	stomach
13	chr2:48744000-48756600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:48744000-48756800	Weak transcription	Colonic Mucosa	Colon
15	chr2:48744600-48756400	Weak transcription	Brain Germinal Matrix	brain
16	chr2:48744800-48756200	Weak transcription	Fetal Brain Female	brain
17	chr2:48745200-48756200	Weak transcription	Esophagus	oesophagus
18	chr2:48745600-48756800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr2:48745800-48756400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr2:48745800-48756400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:48745800-48756400	Weak transcription	Brain Angular Gyrus	brain
22	chr2:48745800-48756400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:48746000-48756400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr2:48746000-48756400	Weak transcription	A549	lung
25	chr2:48746000-48756400	Weak transcription	HSMM	muscle
26	chr2:48746400-48756400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr2:48746800-48756600	Weak transcription	Osteobl	bone
28	chr2:48746800-48756800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:48747000-48756800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:48747000-48756800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:48748200-48756400	Weak transcription	Duodenum Mucosa	Duodenum
32	chr2:48748200-48756400	Weak transcription	GM12878-XiMat	blood
33	chr2:48748200-48756800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:48748200-48756800	Weak transcription	NHEK	skin
35	chr2:48748600-48756200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr2:48748600-48756400	Weak transcription	Dnd41	blood
37	chr2:48748800-48756400	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr2:48749400-48756200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:48749400-48756400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:48749400-48756400	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr2:48749400-48756400	Weak transcription	Fetal Thymus	thymus
42	chr2:48749400-48756400	Weak transcription	Thymus	Thymus
43	chr2:48749600-48756200	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr2:48749600-48756200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr2:48749600-48756200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:48749600-48756800	Weak transcription	Liver	Liver
47	chr2:48749800-48756200	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr2:48750000-48756200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:48750000-48756400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:48750000-48756400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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