Variant report

Variant	rs72725167
Chromosome Location	chr1:94515630-94515631
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17392507	1.00[EUR][1000 genomes]
rs1801581	0.83[EUR][1000 genomes]
rs41292683	1.00[EUR][1000 genomes]
rs4147834	0.85[ASN][1000 genomes]
rs4147835	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55712710	0.93[EUR][1000 genomes]
rs56197337	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56375042	1.00[EUR][1000 genomes]
rs6658767	0.87[EUR][1000 genomes]
rs72725166	0.90[EUR][1000 genomes]
rs72725169	1.00[EUR][1000 genomes]
rs72725178	0.87[EUR][1000 genomes]
rs72725182	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871172	chr1:94504545-94535546	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv871057	chr1:94513142-94577286	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94505800-94523600	Weak transcription	Psoas Muscle	Psoas
2	chr1:94509600-94516800	Enhancers	Fetal Muscle Leg	muscle
3	chr1:94509800-94515800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:94509800-94516800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr1:94510000-94517400	Enhancers	NHDF-Ad	bronchial
6	chr1:94511600-94515800	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr1:94511600-94515800	Weak transcription	Stomach Mucosa	stomach
8	chr1:94511600-94515800	Weak transcription	NHLF	lung
9	chr1:94511600-94520800	Weak transcription	Brain Angular Gyrus	brain
10	chr1:94511800-94515800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:94511800-94518000	Weak transcription	Fetal Stomach	stomach
12	chr1:94512400-94515800	Enhancers	Right Atrium	heart
13	chr1:94512800-94516800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:94513000-94516800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr1:94513200-94516000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:94513200-94516800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:94513400-94516000	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr1:94513400-94516600	Enhancers	HSMM	muscle
19	chr1:94513400-94517200	Enhancers	Osteobl	bone
20	chr1:94513800-94516600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:94513800-94524800	Weak transcription	Right Ventricle	heart
22	chr1:94514400-94515800	Weak transcription	NH-A	brain
23	chr1:94514400-94516600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:94514400-94520200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr1:94514600-94515800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr1:94514600-94516400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr1:94514600-94516600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr1:94514600-94516800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr1:94514600-94516800	Enhancers	Adipose Nuclei	Adipose
30	chr1:94514600-94517200	Enhancers	HepG2	liver
31	chr1:94514600-94519800	Weak transcription	HSMMtube	muscle
32	chr1:94514600-94522000	Weak transcription	Aorta	Aorta
33	chr1:94514800-94516000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr1:94514800-94517000	Enhancers	HUVEC	blood vessel
35	chr1:94514800-94519600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr1:94514800-94519800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr1:94514800-94520800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:94515000-94516400	Weak transcription	Fetal Intestine Small	intestine
39	chr1:94515200-94515800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr1:94515200-94516000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:94515200-94516000	Enhancers	Fetal Lung	lung
42	chr1:94515200-94516800	Enhancers	HMEC	breast
43	chr1:94515200-94516800	Enhancers	NHEK	skin
44	chr1:94515400-94515800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:94515400-94515800	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr1:94515400-94515800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:94515400-94515800	Enhancers	Fetal Muscle Trunk	muscle
48	chr1:94515400-94515800	Enhancers	Lung	lung
49	chr1:94515400-94515800	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr1:94515400-94515800	Enhancers	Spleen	Spleen

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