Variant report

Variant	rs569940254
Chromosome Location	chr1:57889041-57889042
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv546306	chr1:57888427-57889667	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:96 , 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	chr1:57887400-57889200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:57887400-57890200	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr1:57887400-57890200	Bivalent/Poised TSS	HSMM	muscle
12	chr1:57887400-57890600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:57887400-57890600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:57887400-57890600	Active TSS	Right Atrium	heart
15	chr1:57887400-57890800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:57887600-57889400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:57887600-57889600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
18	chr1:57887600-57890200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:57887600-57890600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:57887600-57890600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr1:57887600-57890800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:57887600-57890800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:57887600-57891600	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr1:57887800-57889800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:57887800-57889800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:57887800-57890000	Bivalent Enhancer	Liver	Liver
27	chr1:57887800-57890000	Bivalent Enhancer	Placenta	Placenta
28	chr1:57887800-57890200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:57887800-57890200	Bivalent/Poised TSS	Psoas Muscle	Psoas
30	chr1:57887800-57890400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr1:57887800-57890600	Bivalent/Poised TSS	NH-A	brain
32	chr1:57887800-57890800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:57887800-57890800	Bivalent/Poised TSS	NHLF	lung
34	chr1:57888000-57889200	Active TSS	Fetal Kidney	kidney
35	chr1:57888000-57889400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
36	chr1:57888000-57889400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
37	chr1:57888000-57889400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
38	chr1:57888000-57889400	Enhancers	Gastric	stomach
39	chr1:57888000-57889400	Bivalent/Poised TSS	Right Ventricle	heart
40	chr1:57888000-57889400	Bivalent Enhancer	HMEC	breast
41	chr1:57888000-57889600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:57888000-57889600	Bivalent Enhancer	Spleen	Spleen
43	chr1:57888000-57890200	Bivalent/Poised TSS	Ovary	ovary
44	chr1:57888000-57890600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:57888000-57890600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:57888000-57890600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
47	chr1:57888200-57889400	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr1:57888200-57889400	Bivalent Enhancer	Esophagus	oesophagus
49	chr1:57888200-57889400	Enhancers	Pancreas	Pancrea
50	chr1:57888200-57890000	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--

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