Variant report

Variant	rs72725169
Chromosome Location	chr1:94515870-94515871
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17392507	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1801581	0.83[EUR][1000 genomes]
rs41292683	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4147835	1.00[EUR][1000 genomes]
rs55712710	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56197337	1.00[EUR][1000 genomes]
rs56375042	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6658767	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72725166	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72725167	1.00[EUR][1000 genomes]
rs72725178	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72725182	1.00[AMR][1000 genomes];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:53 , 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	chr1:94509800-94516800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr1:94510000-94517400	Enhancers	NHDF-Ad	bronchial
5	chr1:94511600-94520800	Weak transcription	Brain Angular Gyrus	brain
6	chr1:94511800-94518000	Weak transcription	Fetal Stomach	stomach
7	chr1:94512800-94516800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:94513000-94516800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr1:94513200-94516000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:94513200-94516800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:94513400-94516000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr1:94513400-94516600	Enhancers	HSMM	muscle
13	chr1:94513400-94517200	Enhancers	Osteobl	bone
14	chr1:94513800-94516600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:94513800-94524800	Weak transcription	Right Ventricle	heart
16	chr1:94514400-94516600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:94514400-94520200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr1:94514600-94516400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr1:94514600-94516600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr1:94514600-94516800	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr1:94514600-94516800	Enhancers	Adipose Nuclei	Adipose
22	chr1:94514600-94517200	Enhancers	HepG2	liver
23	chr1:94514600-94519800	Weak transcription	HSMMtube	muscle
24	chr1:94514600-94522000	Weak transcription	Aorta	Aorta
25	chr1:94514800-94516000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr1:94514800-94517000	Enhancers	HUVEC	blood vessel
27	chr1:94514800-94519600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr1:94514800-94519800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr1:94514800-94520800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:94515000-94516400	Weak transcription	Fetal Intestine Small	intestine
31	chr1:94515200-94516000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:94515200-94516000	Enhancers	Fetal Lung	lung
33	chr1:94515200-94516800	Enhancers	HMEC	breast
34	chr1:94515200-94516800	Enhancers	NHEK	skin
35	chr1:94515400-94516200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:94515400-94517000	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr1:94515400-94517000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr1:94515400-94517000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:94515400-94517200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:94515400-94517200	Enhancers	Left Ventricle	heart
41	chr1:94515400-94517200	Enhancers	A549	lung
42	chr1:94515800-94516200	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr1:94515800-94516600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:94515800-94516800	Enhancers	Stomach Mucosa	stomach
45	chr1:94515800-94516800	Enhancers	NHLF	lung
46	chr1:94515800-94517200	Enhancers	NH-A	brain
47	chr1:94515800-94517600	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr1:94515800-94519400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:94515800-94520600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:94515800-94520600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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