Variant report

Variant	rs374688547
Chromosome Location	chr2:39893798-39893799
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:39893666..39896624-chr2:39898263..39900295,2	K562	blood:

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	nsv873889	chr2:39830183-39950482	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv833870	chr2:39837022-40026024	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv3411574	chr2:39891873-39894421	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv3377107	chr2:39892273-39894821	Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39891200-39894000	Active TSS	Fetal Brain Female	brain
2	chr2:39891800-39894600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr2:39892000-39893800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:39892000-39893800	Active TSS	HSMM	muscle
5	chr2:39892000-39894000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr2:39892000-39894200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
7	chr2:39892000-39894400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr2:39892200-39893800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:39892200-39893800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:39892200-39893800	Bivalent/Poised TSS	Fetal Lung	lung
11	chr2:39892200-39894000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
12	chr2:39892200-39894000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:39892200-39894000	Active TSS	H9 Cell Line	embryonic stem cell
14	chr2:39892200-39894000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:39892200-39894000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
16	chr2:39892200-39894000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:39892200-39894000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:39892200-39894000	Active TSS	Fetal Kidney	kidney
19	chr2:39892200-39894600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
20	chr2:39892400-39893800	Active TSS	Brain Cingulate Gyrus	brain
21	chr2:39892400-39893800	Active TSS	Brain Substantia Nigra	brain
22	chr2:39892400-39893800	Active TSS	Colon Smooth Muscle	Colon
23	chr2:39892400-39894000	Active TSS	Right Atrium	heart
24	chr2:39892400-39894200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
25	chr2:39892400-39894400	Active TSS	Aorta	Aorta
26	chr2:39892600-39893800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr2:39892600-39893800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:39892600-39893800	Active TSS	Brain Hippocampus Middle	brain
29	chr2:39892600-39893800	Bivalent/Poised TSS	Fetal Stomach	stomach
30	chr2:39892600-39893800	Active TSS	Ovary	ovary
31	chr2:39892600-39893800	Active TSS	Psoas Muscle	Psoas
32	chr2:39892600-39893800	Active TSS	Right Ventricle	heart
33	chr2:39892600-39893800	Active TSS	HSMMtube	muscle
34	chr2:39892600-39894000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:39892600-39894200	Bivalent Enhancer	Spleen	Spleen
36	chr2:39892600-39894800	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr2:39892600-39894800	Active TSS	Brain Angular Gyrus	brain
38	chr2:39892800-39893800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr2:39892800-39893800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:39892800-39893800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
41	chr2:39892800-39893800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr2:39892800-39893800	Bivalent/Poised TSS	NH-A	brain
43	chr2:39892800-39894000	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr2:39893000-39893800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:39893000-39893800	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr2:39893000-39893800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
47	chr2:39893000-39893800	Active TSS	Placenta Amnion	Placenta Amnion
48	chr2:39893000-39893800	Bivalent/Poised TSS	A549	lung
49	chr2:39893000-39894000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
50	chr2:39893000-39894000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum

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