Variant report

Variant	rs59931444
Chromosome Location	chr1:224780809-224780810
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs55730825	1.00[AMR][1000 genomes]
rs56034385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56825738	1.00[AMR][1000 genomes]
rs56912045	1.00[AMR][1000 genomes]
rs57321094	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57845819	1.00[AMR][1000 genomes]
rs57931386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58482551	1.00[AMR][1000 genomes]
rs58565730	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60418054	1.00[AMR][1000 genomes]
rs60681998	1.00[AMR][1000 genomes]
rs60737124	1.00[AMR][1000 genomes]
rs61556319	1.00[AMR][1000 genomes]
rs74146204	1.00[AMR][1000 genomes]
rs74146393	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74146395	1.00[AFR][1000 genomes]
rs74146397	1.00[AMR][1000 genomes]
rs74146399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74146400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74149624	1.00[AMR][1000 genomes]
rs74149626	1.00[AMR][1000 genomes]
rs873829	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs873830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs873831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs873832	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv873224	chr1:224746577-224794913	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3442947	chr1:224776590-224780847	Enhancers Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224777200-224782200	Weak transcription	Aorta	Aorta
2	chr1:224777400-224782000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr1:224777400-224782200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:224777400-224782200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr1:224777600-224782200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr1:224779000-224781200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr1:224779200-224781200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr1:224779400-224781200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:224779600-224781200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:224779600-224781600	Enhancers	HMEC	breast
11	chr1:224779800-224781200	Enhancers	Brain Substantia Nigra	brain
12	chr1:224779800-224781200	Enhancers	NHLF	lung
13	chr1:224779800-224781600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:224780000-224781200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:224780000-224781200	Enhancers	NHEK	skin
16	chr1:224780000-224781800	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr1:224780200-224781000	Enhancers	HSMM	muscle
18	chr1:224780200-224781200	Enhancers	Primary hematopoietic stem cells	blood
19	chr1:224780200-224781200	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr1:224780200-224781200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:224780200-224781200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:224780200-224781200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:224780200-224781200	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr1:224780200-224781200	Enhancers	Dnd41	blood
25	chr1:224780200-224781200	Enhancers	NHDF-Ad	bronchial
26	chr1:224780200-224781400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:224780200-224781400	Enhancers	Muscle Satellite Cultured Cells	--
28	chr1:224780200-224781600	Enhancers	HSMMtube	muscle
29	chr1:224780200-224782000	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr1:224780400-224781000	Enhancers	Osteobl	bone
31	chr1:224780400-224781200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:224780400-224781200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:224780400-224781200	Enhancers	Primary B cells from peripheral blood	blood
34	chr1:224780400-224781200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:224780400-224781200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
36	chr1:224780400-224781200	Enhancers	Brain Cingulate Gyrus	brain
37	chr1:224780400-224781200	Enhancers	Gastric	stomach
38	chr1:224780400-224781200	Enhancers	Lung	lung
39	chr1:224780400-224781200	Enhancers	Psoas Muscle	Psoas
40	chr1:224780400-224781200	Enhancers	GM12878-XiMat	blood
41	chr1:224780400-224781400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:224780600-224781000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:224780600-224781200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:224780600-224781200	Enhancers	Duodenum Mucosa	Duodenum
45	chr1:224780600-224782200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr1:224780800-224781200	Enhancers	NH-A	brain

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