Variant report

Variant	rs72670569
Chromosome Location	chr4:124707312-124707313
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:124702920..124705025-chr4:124707186..124709646,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12233664	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12233817	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1425417	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17007390	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57187481	0.81[ASN][1000 genomes]
rs72670547	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs72670548	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72670562	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72670563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72670565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72670567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72670571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72670577	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs72670580	0.83[AFR][1000 genomes]
rs72670583	0.83[AFR][1000 genomes]
rs72670584	0.83[AFR][1000 genomes]
rs72670586	0.83[AFR][1000 genomes]
rs72670591	0.83[AFR][1000 genomes]
rs919014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][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	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1001751	chr4:124693346-124733305	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
3	esv2754745	chr4:124698055-124770865	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124694200-124707800	Weak transcription	Pancreas	Pancrea
2	chr4:124698800-124708000	Weak transcription	Right Atrium	heart
3	chr4:124703600-124708600	Enhancers	Osteobl	bone
4	chr4:124703600-124710000	Enhancers	NHLF	lung
5	chr4:124703800-124710200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:124704000-124708200	Weak transcription	Stomach Mucosa	stomach
7	chr4:124704000-124708400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:124704000-124709800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr4:124704600-124708400	Enhancers	HSMM	muscle
10	chr4:124704600-124708800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:124704600-124709200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr4:124704600-124709200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr4:124704600-124709200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr4:124704600-124710000	Enhancers	Fetal Muscle Leg	muscle
15	chr4:124704800-124707400	Weak transcription	Psoas Muscle	Psoas
16	chr4:124704800-124708000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:124704800-124709000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr4:124704800-124709800	Enhancers	Fetal Stomach	stomach
19	chr4:124704800-124710000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr4:124705000-124708000	Weak transcription	Ovary	ovary
21	chr4:124705000-124710200	Enhancers	Fetal Lung	lung
22	chr4:124705400-124707600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr4:124706000-124707800	Weak transcription	NH-A	brain
24	chr4:124706400-124707400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr4:124706400-124710000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr4:124706600-124707400	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr4:124706600-124708400	Enhancers	H9 Cell Line	embryonic stem cell
28	chr4:124706600-124709000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr4:124706600-124709200	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr4:124706800-124708000	Enhancers	Aorta	Aorta
31	chr4:124706800-124708400	Enhancers	Brain Anterior Caudate	brain
32	chr4:124706800-124708800	Enhancers	Fetal Heart	heart
33	chr4:124706800-124710000	Enhancers	NHDF-Ad	bronchial
34	chr4:124706800-124710400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:124707000-124707400	Weak transcription	HSMMtube	muscle
36	chr4:124707000-124708000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr4:124707000-124708200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr4:124707000-124708200	Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr4:124707000-124709000	Enhancers	Rectal Smooth Muscle	rectum
40	chr4:124707200-124707400	Enhancers	Colon Smooth Muscle	Colon
41	chr4:124707200-124708000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr4:124707200-124708200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr4:124707200-124708200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr4:124707200-124708200	Weak transcription	Adipose Nuclei	Adipose
45	chr4:124707200-124708200	Weak transcription	Stomach Smooth Muscle	stomach
46	chr4:124707200-124708400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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