Variant report

Variant	rs587742513
Chromosome Location	chr1:120097017-120097018
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1000391	chr1:119837978-120287056	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv535077	chr1:119837978-120287056	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv1004662	chr1:119847447-120154798	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	esv2763647	chr1:119929442-120154798	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1000939	chr1:119983342-120471049	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	esv2757749	chr1:120016696-120214577	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	esv2758964	chr1:120016696-120214577	Enhancers ZNF genes & repeats Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	esv5682	chr1:120072464-120135533	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv946186	chr1:120091427-120161787	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv470734	chr1:120091433-120145883	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv520283	chr1:120091434-120126990	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv818400	chr1:120091434-120126990	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv872171	chr1:120093312-120126990	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv872172	chr1:120093312-120131597	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv872173	chr1:120093312-120137445	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv1015031	chr1:120095922-120140011	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
18	nsv872174	chr1:120096458-120126990	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120092400-120097200	Enhancers	Pancreas	Pancrea
2	chr1:120092600-120097800	Enhancers	Fetal Lung	lung
3	chr1:120092800-120116600	Weak transcription	Spleen	Spleen
4	chr1:120094200-120098000	Enhancers	Fetal Muscle Leg	muscle
5	chr1:120094400-120098000	Enhancers	Fetal Intestine Large	intestine
6	chr1:120094800-120098000	Enhancers	Fetal Intestine Small	intestine
7	chr1:120094800-120098800	Enhancers	HSMMtube	muscle
8	chr1:120095000-120097200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:120095000-120098000	Enhancers	HSMM	muscle
10	chr1:120095600-120097400	Enhancers	HMEC	breast
11	chr1:120095800-120097200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:120095800-120097200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr1:120095800-120099000	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr1:120096000-120097200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr1:120096000-120097200	Enhancers	Brain Germinal Matrix	brain
16	chr1:120096000-120097200	Enhancers	Lung	lung
17	chr1:120096000-120097200	Enhancers	Placenta Amnion	Placenta Amnion
18	chr1:120096000-120097200	Enhancers	K562	blood
19	chr1:120096000-120097400	Enhancers	Fetal Kidney	kidney
20	chr1:120096000-120097400	Enhancers	Ovary	ovary
21	chr1:120096000-120097400	Enhancers	NH-A	brain
22	chr1:120096000-120097600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:120096000-120097600	Enhancers	Liver	Liver
24	chr1:120096000-120097600	Enhancers	Fetal Heart	heart
25	chr1:120096000-120097800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr1:120096200-120097200	Enhancers	Osteobl	bone
27	chr1:120096200-120097400	Enhancers	Right Atrium	heart
28	chr1:120096400-120097200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:120096400-120097200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:120096400-120097200	Enhancers	Brain Anterior Caudate	brain
31	chr1:120096400-120097200	Enhancers	Brain Substantia Nigra	brain
32	chr1:120096400-120097200	Enhancers	Fetal Stomach	stomach
33	chr1:120096400-120097400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:120096400-120097400	Enhancers	Brain Angular Gyrus	brain
35	chr1:120096400-120097400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr1:120096400-120097400	Enhancers	Fetal Muscle Trunk	muscle
37	chr1:120096400-120097400	Bivalent Enhancer	NHLF	lung
38	chr1:120096400-120097600	Enhancers	Brain Hippocampus Middle	brain
39	chr1:120096400-120097600	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr1:120096400-120097800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:120096600-120097200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:120096600-120097200	Enhancers	Brain Cingulate Gyrus	brain
43	chr1:120096600-120097400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:120096800-120097200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:120096800-120097200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr1:120096800-120097200	Enhancers	Left Ventricle	heart
47	chr1:120096800-120097200	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr1:120096800-120097400	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr1:120096800-120097400	Enhancers	Adipose Nuclei	Adipose
50	chr1:120096800-120097600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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