Variant report

Variant	rs55712710
Chromosome Location	chr1:94514070-94514071
allele	A/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];0.93[EUR][1000 genomes]
rs1801581	0.90[EUR][1000 genomes]
rs41292683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4147835	0.93[EUR][1000 genomes]
rs56197337	0.93[EUR][1000 genomes]
rs56375042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6658767	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72725166	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72725167	0.93[EUR][1000 genomes]
rs72725169	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72725178	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72725182	1.00[AMR][1000 genomes];0.81[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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94505600-94514200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:94505800-94523600	Weak transcription	Psoas Muscle	Psoas
3	chr1:94509600-94516800	Enhancers	Fetal Muscle Leg	muscle
4	chr1:94509800-94514800	Enhancers	Placenta	Placenta
5	chr1:94509800-94515800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:94509800-94516800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr1:94510000-94514600	Enhancers	Left Ventricle	heart
8	chr1:94510000-94517400	Enhancers	NHDF-Ad	bronchial
9	chr1:94510400-94515200	Weak transcription	Fetal Lung	lung
10	chr1:94511600-94514200	Weak transcription	HSMMtube	muscle
11	chr1:94511600-94514400	Weak transcription	Fetal Intestine Small	intestine
12	chr1:94511600-94515400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:94511600-94515400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:94511600-94515400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr1:94511600-94515400	Weak transcription	A549	lung
16	chr1:94511600-94515800	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr1:94511600-94515800	Weak transcription	Stomach Mucosa	stomach
18	chr1:94511600-94515800	Weak transcription	NHLF	lung
19	chr1:94511600-94520800	Weak transcription	Brain Angular Gyrus	brain
20	chr1:94511800-94514200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:94511800-94515200	Weak transcription	HMEC	breast
22	chr1:94511800-94515200	Weak transcription	NHEK	skin
23	chr1:94511800-94515400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:94511800-94515800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:94511800-94518000	Weak transcription	Fetal Stomach	stomach
26	chr1:94512200-94515000	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr1:94512400-94514200	Enhancers	Adipose Nuclei	Adipose
28	chr1:94512400-94514600	Enhancers	Placenta Amnion	Placenta Amnion
29	chr1:94512400-94515400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:94512400-94515800	Enhancers	Right Atrium	heart
31	chr1:94512800-94516800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:94513000-94516800	Enhancers	Muscle Satellite Cultured Cells	--
33	chr1:94513200-94514400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr1:94513200-94514800	Enhancers	Fetal Kidney	kidney
35	chr1:94513200-94516000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:94513200-94516800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:94513400-94514400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr1:94513400-94514600	Flanking Active TSS	HepG2	liver
39	chr1:94513400-94514800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr1:94513400-94516000	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr1:94513400-94516600	Enhancers	HSMM	muscle
42	chr1:94513400-94517200	Enhancers	Osteobl	bone
43	chr1:94513600-94514400	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr1:94513600-94514400	Enhancers	NH-A	brain
45	chr1:94513600-94514600	Enhancers	Aorta	Aorta
46	chr1:94513600-94514800	Flanking Active TSS	HUVEC	blood vessel
47	chr1:94513600-94515400	Weak transcription	Spleen	Spleen
48	chr1:94513800-94514400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr1:94513800-94514600	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr1:94513800-94514600	Enhancers	HUES6 Cell Line	embryonic stem cell

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