Variant report

Variant	rs548041647
Chromosome Location	chr2:39892712-39892713
allele	A/G
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	ZNF143	chr2:39892288-39893212	H1-hESC	embryonic stem cell:	n/a	n/a
2	SIN3A	chr2:39892127-39894357	H1-hESC	embryonic stem cell:	n/a	n/a
3	SIN3AK20	chr2:39892465-39892795	H1-hESC	embryonic stem cell:	n/a	n/a
4	RAD21	chr2:39892088-39892803	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTBP2	chr2:39892004-39892716	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
TMEM178A	TF binding region

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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39885600-39893600	Weak transcription	Fetal Brain Male	brain
2	chr2:39891200-39894000	Active TSS	Fetal Brain Female	brain
3	chr2:39891800-39892800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
4	chr2:39891800-39893000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:39891800-39894600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr2:39892000-39893800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:39892000-39893800	Active TSS	HSMM	muscle
8	chr2:39892000-39894000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr2:39892000-39894200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
10	chr2:39892000-39894400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr2:39892200-39892800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:39892200-39892800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
13	chr2:39892200-39893200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:39892200-39893600	Active TSS	Brain Anterior Caudate	brain
15	chr2:39892200-39893600	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr2:39892200-39893600	Active TSS	Fetal Muscle Trunk	muscle
17	chr2:39892200-39893800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:39892200-39893800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:39892200-39893800	Bivalent/Poised TSS	Fetal Lung	lung
20	chr2:39892200-39894000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
21	chr2:39892200-39894000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:39892200-39894000	Active TSS	H9 Cell Line	embryonic stem cell
23	chr2:39892200-39894000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:39892200-39894000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
25	chr2:39892200-39894000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:39892200-39894000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:39892200-39894000	Active TSS	Fetal Kidney	kidney
28	chr2:39892200-39894600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
29	chr2:39892400-39892800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
30	chr2:39892400-39892800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:39892400-39892800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
32	chr2:39892400-39892800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
33	chr2:39892400-39892800	Active TSS	Fetal Heart	heart
34	chr2:39892400-39893200	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:39892400-39893400	Active TSS	Left Ventricle	heart
36	chr2:39892400-39893600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
37	chr2:39892400-39893600	Bivalent Enhancer	Placenta	Placenta
38	chr2:39892400-39893800	Active TSS	Brain Cingulate Gyrus	brain
39	chr2:39892400-39893800	Active TSS	Brain Substantia Nigra	brain
40	chr2:39892400-39893800	Active TSS	Colon Smooth Muscle	Colon
41	chr2:39892400-39894000	Active TSS	Right Atrium	heart
42	chr2:39892400-39894200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
43	chr2:39892400-39894400	Active TSS	Aorta	Aorta
44	chr2:39892600-39892800	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr2:39892600-39892800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr2:39892600-39892800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr2:39892600-39892800	Flanking Bivalent TSS/Enh	NH-A	brain
48	chr2:39892600-39893000	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:39892600-39893000	Bivalent Enhancer	Colonic Mucosa	Colon
50	chr2:39892600-39893000	Enhancers	Lung	lung

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