Variant report

Variant	rs72669882
Chromosome Location	chr1:58932588-58932589
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs338253	0.91[ASN][1000 genomes]
rs6666833	0.91[ASN][1000 genomes]
rs6685601	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669865	0.91[EUR][1000 genomes]
rs72669872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72669873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72669875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72669876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72669887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669898	1.00[AFR][1000 genomes]
rs822168	0.92[EUR][1000 genomes]

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	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
2	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
3	nsv829948	chr1:58803681-58971380	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv546314	chr1:58915624-58936384	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv1003930	chr1:58930444-59157038	Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:58899000-58934200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr1:58918400-58974000	Weak transcription	Spleen	Spleen
3	chr1:58920400-58934000	Weak transcription	Brain Hippocampus Middle	brain
4	chr1:58923200-58954200	Weak transcription	Pancreas	Pancrea
5	chr1:58925000-58942400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:58926400-58942800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr1:58927400-58934000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr1:58927400-58943200	Weak transcription	Primary B cells from cord blood	blood
9	chr1:58928400-58932600	Strong transcription	Primary T cells from cord blood	blood
10	chr1:58928600-58945800	Weak transcription	Aorta	Aorta
11	chr1:58929000-58954600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr1:58929200-58932800	Strong transcription	Skeletal Muscle Male	skeletal muscle
13	chr1:58929800-58934200	Weak transcription	Lung	lung
14	chr1:58930400-58945800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr1:58930400-58949400	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr1:58930800-58934000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:58931000-58954200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:58931000-58954600	Weak transcription	Fetal Intestine Large	intestine
19	chr1:58931000-58954800	Weak transcription	Gastric	stomach
20	chr1:58931000-58977000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr1:58931200-58934000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:58931200-58952600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr1:58931200-58969400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr1:58931200-59010800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr1:58931600-58932600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:58931600-58932600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:58931600-58932600	Enhancers	HMEC	breast
28	chr1:58931600-58932800	Enhancers	NH-A	brain
29	chr1:58931600-58933800	Weak transcription	Liver	Liver
30	chr1:58931600-58974000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr1:58931800-58932600	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr1:58931800-58932600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:58931800-58932600	Enhancers	HSMMtube	muscle
34	chr1:58931800-58932800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:58931800-58933000	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr1:58931800-58933000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr1:58932000-58932600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:58932000-58932600	Enhancers	Fetal Muscle Leg	muscle
39	chr1:58932000-58932600	Enhancers	NHEK	skin
40	chr1:58932000-58933000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:58932000-58933000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:58932000-58934800	Strong transcription	Ovary	ovary
43	chr1:58932000-58935600	Weak transcription	Colonic Mucosa	Colon
44	chr1:58932200-58932600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:58932200-58932600	Enhancers	Fetal Muscle Trunk	muscle
46	chr1:58932200-58933000	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr1:58932200-58933000	Enhancers	H1 Cell Line	embryonic stem cell
48	chr1:58932200-58933000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:58932200-58933000	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr1:58932200-58933000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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