Variant report

Variant	rs181686929
Chromosome Location	chr1:57889840-57889841
allele	G/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	chr1:57887588-57890834	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr1:57889311-57890582	H1-neurons	neurons:	n/a	n/a
3	REST	chr1:57889669-57890640	H1-neurons	neurons:	n/a	chr1:57889708-57889721 chr1:57890217-57890230
4	RAD21	chr1:57889832-57890828	H1-hESC	embryonic stem cell:	n/a	chr1:57890366-57890385
5	POLR2A	chr1:57887817-57890541	H1-neurons	neurons:	n/a	n/a
6	SMC3	chr1:57887672-57890985	SK-N-SH	brain:	n/a	chr1:57890368-57890378 chr1:57889163-57889170 chr1:57888587-57888601 chr1:57890367-57890381 chr1:57890321-57890329
7	RAD21	chr1:57887583-57889844	SK-N-SH	brain:	n/a	chr1:57888586-57888605 chr1:57888769-57888778 chr1:57888623-57888637 chr1:57888591-57888601
8	CTCF	chr1:57889497-57890769	SK-N-SH	brain:	n/a	chr1:57889664-57889677 chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381

Variant related genes	Relation type
DAB1	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817216	chr1:57801783-58130775	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1001771	chr1:57837089-58068175	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv870908	chr1:57884310-58037783	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv19188	chr1:57887539-57890289	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
5	esv3379485	chr1:57888389-57891237	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57885800-57890800	Active TSS	Fetal Brain Female	brain
2	chr1:57886800-57890800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:57887000-57890400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:57887200-57890200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
5	chr1:57887200-57890600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr1:57887200-57890600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr1:57887200-57890600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr1:57887200-57890800	Active TSS	H9 Cell Line	embryonic stem cell
9	chr1:57887400-57890200	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr1:57887400-57890200	Bivalent/Poised TSS	HSMM	muscle
11	chr1:57887400-57890600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:57887400-57890600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:57887400-57890600	Active TSS	Right Atrium	heart
14	chr1:57887400-57890800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:57887600-57890200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:57887600-57890600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:57887600-57890600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:57887600-57890800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:57887600-57890800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:57887600-57891600	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr1:57887800-57890000	Bivalent Enhancer	Liver	Liver
22	chr1:57887800-57890000	Bivalent Enhancer	Placenta	Placenta
23	chr1:57887800-57890200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:57887800-57890200	Bivalent/Poised TSS	Psoas Muscle	Psoas
25	chr1:57887800-57890400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr1:57887800-57890600	Bivalent/Poised TSS	NH-A	brain
27	chr1:57887800-57890800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:57887800-57890800	Bivalent/Poised TSS	NHLF	lung
29	chr1:57888000-57890200	Bivalent/Poised TSS	Ovary	ovary
30	chr1:57888000-57890600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:57888000-57890600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:57888000-57890600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
33	chr1:57888200-57890000	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
34	chr1:57888200-57890000	Bivalent Enhancer	Lung	lung
35	chr1:57888200-57890600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
36	chr1:57888400-57890200	Active TSS	Fetal Brain Male	brain
37	chr1:57888400-57890600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
38	chr1:57888400-57890600	Active TSS	Fetal Heart	heart
39	chr1:57888400-57891000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
40	chr1:57888600-57890800	Active TSS	Brain Angular Gyrus	brain
41	chr1:57888600-57890800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
42	chr1:57888800-57890000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:57888800-57890200	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr1:57888800-57890200	Active TSS	Left Ventricle	heart
45	chr1:57888800-57890200	Bivalent/Poised TSS	HepG2	liver
46	chr1:57888800-57890600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
47	chr1:57888800-57890800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr1:57888800-57890800	Active TSS	Stomach Smooth Muscle	stomach
49	chr1:57889000-57890200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr1:57889000-57890600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain

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