Variant report

Variant	rs72988548
Chromosome Location	chr1:76541329-76541330
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:76540930..76543846-chr1:76546687..76549468,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10127768	1.00[EUR][1000 genomes]
rs1021463	1.00[EUR][1000 genomes]
rs10493581	1.00[EUR][1000 genomes]
rs10747330	1.00[EUR][1000 genomes]
rs10873786	1.00[EUR][1000 genomes]
rs11161785	1.00[EUR][1000 genomes]
rs11161801	1.00[EUR][1000 genomes]
rs12401785	1.00[EUR][1000 genomes]
rs1251499	1.00[EUR][1000 genomes]
rs1251532	1.00[EUR][1000 genomes]
rs1251538	1.00[EUR][1000 genomes]
rs1251554	1.00[EUR][1000 genomes]
rs1251559	1.00[EUR][1000 genomes]
rs1251563	1.00[EUR][1000 genomes]
rs1251589	1.00[EUR][1000 genomes]
rs1251590	1.00[EUR][1000 genomes]
rs1251592	1.00[EUR][1000 genomes]
rs1251593	1.00[EUR][1000 genomes]
rs1469988	1.00[EUR][1000 genomes]
rs1616175	1.00[EUR][1000 genomes]
rs1658743	1.00[EUR][1000 genomes]
rs17098016	1.00[EUR][1000 genomes]
rs17098027	1.00[EUR][1000 genomes]
rs17098034	1.00[EUR][1000 genomes]
rs17098071	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1770884	1.00[EUR][1000 genomes]
rs1796809	1.00[EUR][1000 genomes]
rs2347963	1.00[EUR][1000 genomes]
rs28675110	1.00[EUR][1000 genomes]
rs60471485	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60815815	1.00[EUR][1000 genomes]
rs6691913	1.00[EUR][1000 genomes]
rs6702596	1.00[EUR][1000 genomes]
rs72988551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72990771	1.00[EUR][1000 genomes]
rs72992611	1.00[EUR][1000 genomes]
rs7515337	1.00[EUR][1000 genomes]
rs946982	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998499	chr1:76361784-76598712	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv870968	chr1:76490234-76552475	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv871862	chr1:76525783-76598209	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76539800-76541400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr1:76539800-76541400	Active TSS	Fetal Brain Female	brain
3	chr1:76539800-76541600	Flanking Active TSS	Primary T cells from cord blood	blood
4	chr1:76539800-76541600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr1:76539800-76542200	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr1:76539800-76542200	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr1:76540000-76541400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:76540000-76541400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:76540000-76541400	Active TSS	Brain Anterior Caudate	brain
10	chr1:76540000-76541600	Active TSS	Aorta	Aorta
11	chr1:76540000-76542000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:76540000-76542000	Active TSS	NHDF-Ad	bronchial
13	chr1:76540000-76542200	Active TSS	Fetal Kidney	kidney
14	chr1:76540000-76543000	Active TSS	Psoas Muscle	Psoas
15	chr1:76540200-76541400	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr1:76540200-76541800	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr1:76540200-76542000	Active TSS	Fetal Stomach	stomach
18	chr1:76540200-76542200	Active TSS	Right Atrium	heart
19	chr1:76540400-76541600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
20	chr1:76540400-76541600	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr1:76540400-76541600	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr1:76540600-76541400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr1:76540600-76541400	Flanking Active TSS	Fetal Muscle Leg	muscle
24	chr1:76540600-76541400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
25	chr1:76540600-76541600	Flanking Active TSS	Primary B cells from peripheral blood	blood
26	chr1:76540600-76541600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr1:76540600-76541600	Active TSS	Stomach Smooth Muscle	stomach
28	chr1:76540600-76542200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr1:76540600-76542400	Flanking Active TSS	HUVEC	blood vessel
30	chr1:76540600-76542800	Active TSS	Left Ventricle	heart
31	chr1:76540800-76541400	Flanking Active TSS	Placenta Amnion	Placenta Amnion
32	chr1:76540800-76541800	Flanking Active TSS	Fetal Lung	lung
33	chr1:76540800-76541800	Enhancers	GM12878-XiMat	blood
34	chr1:76540800-76542000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:76540800-76542200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:76541000-76541400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:76541000-76541400	Flanking Active TSS	Brain Angular Gyrus	brain
38	chr1:76541000-76541400	Flanking Active TSS	Brain Substantia Nigra	brain
39	chr1:76541000-76541400	Active TSS	Fetal Muscle Trunk	muscle
40	chr1:76541000-76541400	Enhancers	Placenta	Placenta
41	chr1:76541000-76541400	Active TSS	Lung	lung
42	chr1:76541000-76541400	Enhancers	Stomach Mucosa	stomach
43	chr1:76541000-76541600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
44	chr1:76541000-76541600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr1:76541000-76541600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:76541000-76541600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr1:76541000-76541600	Enhancers	Colonic Mucosa	Colon
48	chr1:76541000-76541600	Enhancers	Fetal Thymus	thymus
49	chr1:76541000-76541800	Enhancers	Fetal Heart	heart
50	chr1:76541000-76541800	Active TSS	Skeletal Muscle Male	skeletal muscle

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