Variant report

Variant	rs550866807
Chromosome Location	chr2:113189993-113189994
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3422414	chr2:112883450-113200285	Strong transcription Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv949573	chr2:112986955-113320975	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv874871	chr2:113021811-113217630	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	esv1801285	chr2:113113618-113200081	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
5	esv3371480	chr2:113189306-113191854	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113188800-113190000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
2	chr2:113188800-113190000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr2:113188800-113190000	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr2:113189000-113190000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr2:113189000-113190400	Active TSS	Brain Angular Gyrus	brain
6	chr2:113189000-113191200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:113189000-113191200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:113189000-113191200	Active TSS	Liver	Liver
9	chr2:113189200-113190000	Enhancers	Primary T cells fromperipheralblood	blood
10	chr2:113189200-113190200	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr2:113189200-113191200	Active TSS	Osteobl	bone
12	chr2:113189400-113190600	Enhancers	Primary B cells from cord blood	blood
13	chr2:113189400-113191200	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr2:113189400-113191200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:113189400-113191200	Active TSS	Colonic Mucosa	Colon
16	chr2:113189400-113191200	Active TSS	Hela-S3	cervix
17	chr2:113189400-113191200	Active TSS	HSMM	muscle
18	chr2:113189400-113191400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:113189600-113190000	Enhancers	Primary T cells from cord blood	blood
20	chr2:113189600-113190400	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr2:113189600-113190400	Active TSS	NHDF-Ad	bronchial
22	chr2:113189600-113191000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:113189600-113191200	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr2:113189600-113191200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:113189600-113191200	Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr2:113189600-113191200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr2:113189600-113191200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:113189600-113191200	Active TSS	Muscle Satellite Cultured Cells	--
29	chr2:113189600-113191200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr2:113189600-113191200	Active TSS	Brain Cingulate Gyrus	brain
31	chr2:113189600-113191200	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr2:113189600-113191200	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr2:113189600-113191200	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr2:113189600-113191200	Active TSS	Stomach Smooth Muscle	stomach
35	chr2:113189600-113191200	Active TSS	GM12878-XiMat	blood
36	chr2:113189600-113191200	Active TSS	HMEC	breast
37	chr2:113189600-113191200	Active TSS	HSMMtube	muscle
38	chr2:113189600-113191200	Active TSS	HUVEC	blood vessel
39	chr2:113189600-113191200	Active TSS	NH-A	brain
40	chr2:113189600-113191200	Active TSS	NHEK	skin
41	chr2:113189600-113191400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:113189600-113191400	Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr2:113189600-113191800	Active TSS	Brain Anterior Caudate	brain
44	chr2:113189600-113191800	Active TSS	Brain Hippocampus Middle	brain
45	chr2:113189600-113193000	Active TSS	HepG2	liver
46	chr2:113189800-113190000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr2:113189800-113190000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:113189800-113190200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr2:113189800-113190200	Active TSS	Colon Smooth Muscle	Colon
50	chr2:113189800-113190400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links