Variant report

Variant	rs560357966
Chromosome Location	chr2:231379242-231379243
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:231378385-231379599	K562	blood:	n/a	n/a

Variant related genes	Relation type
HMGB1P3	TF binding region

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv963777	chr2:231378518-231384691	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231355200-231380400	Strong transcription	Adipose Nuclei	Adipose
2	chr2:231355800-231381400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:231359600-231380400	Weak transcription	Brain Hippocampus Middle	brain
4	chr2:231361800-231381400	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr2:231362600-231380600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr2:231363800-231380200	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr2:231364200-231381000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:231364600-231385800	Weak transcription	HSMMtube	muscle
9	chr2:231366600-231385200	Weak transcription	HMEC	breast
10	chr2:231366800-231379800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr2:231370800-231389600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr2:231371000-231409800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr2:231371200-231384600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr2:231372000-231384600	Weak transcription	Placenta	Placenta
15	chr2:231372400-231386200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:231374800-231380200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:231375000-231385600	Weak transcription	HSMM	muscle
18	chr2:231375200-231390200	Weak transcription	Ovary	ovary
19	chr2:231376200-231383400	Weak transcription	GM12878-XiMat	blood
20	chr2:231376400-231379600	Weak transcription	Thymus	Thymus
21	chr2:231376400-231380200	Weak transcription	Fetal Thymus	thymus
22	chr2:231376400-231381200	Strong transcription	Primary B cells from cord blood	blood
23	chr2:231376400-231381800	Weak transcription	NHEK	skin
24	chr2:231376600-231380000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr2:231376600-231381200	Strong transcription	Primary B cells from peripheral blood	blood
26	chr2:231376600-231381200	Weak transcription	NHDF-Ad	bronchial
27	chr2:231376600-231383600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr2:231376600-231384000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:231376600-231384400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr2:231376600-231384600	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr2:231376600-231384800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:231376600-231385000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:231376600-231385200	Weak transcription	Right Ventricle	heart
34	chr2:231376600-231385400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:231376600-231386000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:231376600-231390200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:231376600-231390400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr2:231376800-231381800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr2:231377000-231385800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:231377800-231379600	Weak transcription	Fetal Muscle Leg	muscle
41	chr2:231377800-231382600	Weak transcription	Lung	lung
42	chr2:231377800-231385200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:231378000-231379600	Weak transcription	Aorta	Aorta
44	chr2:231378000-231384400	Weak transcription	Left Ventricle	heart
45	chr2:231378000-231390800	Weak transcription	Spleen	Spleen
46	chr2:231378200-231379600	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr2:231378200-231381400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr2:231378200-231385200	Weak transcription	NH-A	brain
49	chr2:231378200-231385400	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr2:231378400-231379400	Enhancers	Liver	Liver

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