Variant report

Variant	rs576103
Chromosome Location	chr1:58715779-58715780
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12124585	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4912185	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs542511	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs590047	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs614373	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs647762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv1015057	chr1:57976993-58793962	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv431379	chr1:58224212-58802608	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1008968	chr1:58582159-58982440	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv534974	chr1:58582159-58982440	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv546307	chr1:58707111-58733050	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv546308	chr1:58714427-58743499	Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:58713000-58716800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
2	chr1:58713800-58715800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
3	chr1:58713800-58716000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
4	chr1:58714200-58715800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
5	chr1:58714200-58716200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr1:58714200-58716200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:58714200-58716200	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr1:58714400-58716200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
9	chr1:58714400-58716400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr1:58714600-58716000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
11	chr1:58714600-58716000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
12	chr1:58714600-58716200	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr1:58714600-58716400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:58714600-58716400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr1:58714600-58716400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
16	chr1:58714800-58716200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
17	chr1:58714800-58716400	Active TSS	Brain Cingulate Gyrus	brain
18	chr1:58714800-58716600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
19	chr1:58715000-58716000	Bivalent Enhancer	Primary B cells from cord blood	blood
20	chr1:58715000-58716000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
21	chr1:58715000-58716000	Bivalent/Poised TSS	Psoas Muscle	Psoas
22	chr1:58715000-58716200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:58715000-58716200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
24	chr1:58715000-58716200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
25	chr1:58715000-58716200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:58715000-58716200	Active TSS	Brain Substantia Nigra	brain
27	chr1:58715000-58716400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:58715000-58716400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
29	chr1:58715000-58716600	Active TSS	Fetal Brain Female	brain
30	chr1:58715200-58715800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
31	chr1:58715200-58716000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr1:58715200-58716000	Active TSS	Colon Smooth Muscle	Colon
33	chr1:58715200-58716000	Enhancers	Pancreas	Pancrea
34	chr1:58715200-58716000	Bivalent Enhancer	HUVEC	blood vessel
35	chr1:58715200-58716200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:58715200-58716200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr1:58715200-58716200	Active TSS	Brain Angular Gyrus	brain
38	chr1:58715200-58716200	Active TSS	Right Atrium	heart
39	chr1:58715200-58716200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
40	chr1:58715200-58716200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
41	chr1:58715200-58716200	Enhancers	Spleen	Spleen
42	chr1:58715200-58716400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:58715200-58716400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:58715200-58716400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr1:58715200-58716400	Bivalent Enhancer	Fetal Muscle Leg	muscle
46	chr1:58715400-58715800	Flanking Active TSS	Primary hematopoietic stem cells	blood
47	chr1:58715400-58715800	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
48	chr1:58715400-58716000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr1:58715400-58716000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr1:58715400-58716000	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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