Variant report

Variant	rs550134544
Chromosome Location	chr2:231385651-231385652
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv875948	chr2:231380697-231420401	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv584673	chr2:231385231-231433237	Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231364600-231385800	Weak transcription	HSMMtube	muscle
2	chr2:231370800-231389600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr2:231371000-231409800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr2:231372400-231386200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:231375200-231390200	Weak transcription	Ovary	ovary
6	chr2:231376600-231386000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:231376600-231390200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:231376600-231390400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr2:231377000-231385800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:231378000-231390800	Weak transcription	Spleen	Spleen
11	chr2:231378400-231386000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:231383800-231386800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:231383800-231387200	ZNF genes & repeats	Primary B cells from cord blood	blood
14	chr2:231384000-231386600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:231384200-231386800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
16	chr2:231384200-231387200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
17	chr2:231384400-231386200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
18	chr2:231384600-231385800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
19	chr2:231384600-231386600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
20	chr2:231384600-231386800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
21	chr2:231384600-231386800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:231384800-231386000	Enhancers	Muscle Satellite Cultured Cells	--
23	chr2:231384800-231386200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
24	chr2:231384800-231386400	ZNF genes & repeats	Primary T cells from cord blood	blood
25	chr2:231384800-231386800	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
26	chr2:231385000-231385800	Enhancers	Liver	Liver
27	chr2:231385000-231386400	ZNF genes & repeats	GM12878-XiMat	blood
28	chr2:231385000-231386600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
29	chr2:231385000-231386800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:231385000-231387000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
31	chr2:231385200-231386600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:231385200-231386600	ZNF genes & repeats	Adipose Nuclei	Adipose
33	chr2:231385200-231386600	ZNF genes & repeats	Left Ventricle	heart
34	chr2:231385200-231387000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:231385200-231390400	Weak transcription	Small Intestine	intestine
36	chr2:231385400-231385800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
37	chr2:231385400-231385800	Weak transcription	Osteobl	bone
38	chr2:231385400-231386600	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr2:231385400-231391000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr2:231385600-231385800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:231385600-231385800	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr2:231385600-231390200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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