Variant report

Variant	rs114782125
Chromosome Location	chr1:241586827-241586828
allele	C/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	TCF12	chr1:241586614-241587207	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr1:241586689-241587095	SH-SY5Y	brain:	n/a	n/a
3	POLR2A	chr1:241586821-241586946	ProgFib	skin:	n/a	n/a

Variant related genes	Relation type
ENSG00000225554	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv918034	chr1:241072791-242005532	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
2	nsv997966	chr1:241100739-242087629	Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	nsv949442	chr1:241432051-241730054	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1002214	chr1:241458939-242099790	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	nsv549460	chr1:241494578-241833287	Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv1009579	chr1:241499537-241824631	Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv530112	chr1:241522031-241840269	Strong transcription Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv873368	chr1:241533392-242195928	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
9	nsv549461	chr1:241554603-241639401	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv873369	chr1:241566725-241596093	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv873370	chr1:241566725-241608619	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	esv3521158	chr1:241585504-241587527	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
13	nsv524187	chr1:241586687-241586834	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:241574200-241587000	Weak transcription	Gastric	stomach
2	chr1:241584000-241587000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:241586000-241587000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:241586600-241587000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
5	chr1:241586600-241587000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
6	chr1:241586600-241587000	Active TSS	Fetal Brain Male	brain
7	chr1:241586600-241587400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:241586600-241588200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:241586600-241588200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:241586600-241588200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:241586600-241588200	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr1:241586800-241587000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
13	chr1:241586800-241587000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:241586800-241587000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
15	chr1:241586800-241587000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
16	chr1:241586800-241587000	Bivalent/Poised TSS	Primary B cells from cord blood	blood
17	chr1:241586800-241587000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:241586800-241587000	Bivalent/Poised TSS	Adipose Nuclei	Adipose
19	chr1:241586800-241587000	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
20	chr1:241586800-241587000	Active TSS	Brain Hippocampus Middle	brain
21	chr1:241586800-241587000	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
22	chr1:241586800-241587000	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
23	chr1:241586800-241587000	Bivalent Enhancer	Stomach Mucosa	stomach
24	chr1:241586800-241587000	Bivalent Enhancer	HepG2	liver
25	chr1:241586800-241587000	Active TSS	HMEC	breast
26	chr1:241586800-241587200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
27	chr1:241586800-241587200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
28	chr1:241586800-241587200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:241586800-241587200	Flanking Active TSS	Brain Angular Gyrus	brain
30	chr1:241586800-241587200	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr1:241586800-241587200	Flanking Active TSS	Brain Substantia Nigra	brain
32	chr1:241586800-241587200	Bivalent Enhancer	Fetal Heart	heart
33	chr1:241586800-241587600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:241586800-241587600	Bivalent Enhancer	Liver	Liver
35	chr1:241586800-241587600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr1:241586800-241587600	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
37	chr1:241586800-241587600	Active TSS	HUVEC	blood vessel
38	chr1:241586800-241587600	Active TSS	NH-A	brain
39	chr1:241586800-241587600	Active TSS	NHDF-Ad	bronchial
40	chr1:241586800-241587800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:241586800-241587800	Active TSS	Brain Germinal Matrix	brain
42	chr1:241586800-241587800	Active TSS	Osteobl	bone
43	chr1:241586800-241588000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
44	chr1:241586800-241588000	Active TSS	A549	lung
45	chr1:241586800-241588000	Bivalent/Poised TSS	HSMMtube	muscle
46	chr1:241586800-241588000	Active TSS	NHLF	lung
47	chr1:241586800-241588200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
48	chr1:241586800-241588200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
49	chr1:241586800-241588200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
50	chr1:241586800-241588200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell

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