Variant report

Variant	rs72685349
Chromosome Location	chr1:78386927-78386928
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1408955	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17101082	0.82[AMR][1000 genomes]
rs2032056	0.85[EUR][1000 genomes]
rs2296455	0.82[AMR][1000 genomes]
rs72685332	0.85[EUR][1000 genomes]
rs72685333	0.85[EUR][1000 genomes]
rs72685335	0.92[EUR][1000 genomes]
rs72685338	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72685344	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72685346	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72685355	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72685362	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72685366	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72685370	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72685371	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72685373	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72685374	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72685376	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72685378	0.85[EUR][1000 genomes]
rs72685382	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72685386	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72685398	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72687103	0.86[AMR][1000 genomes];0.85[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	esv1794082	chr1:78102426-78492221	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
2	esv3434340	chr1:78153780-78607103	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78356200-78408600	Weak transcription	HMEC	breast
2	chr1:78356400-78396000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:78367000-78407000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr1:78371600-78413000	Weak transcription	Psoas Muscle	Psoas
5	chr1:78372800-78418600	Weak transcription	Pancreas	Pancrea
6	chr1:78381400-78387000	Strong transcription	NH-A	brain
7	chr1:78381400-78388000	Strong transcription	HSMM	muscle
8	chr1:78381400-78390600	Strong transcription	Osteobl	bone
9	chr1:78381600-78395200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:78381800-78387600	Strong transcription	Skeletal Muscle Female	skeletal muscle
11	chr1:78381800-78390600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:78381800-78390800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:78382200-78390800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:78382200-78407400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr1:78382200-78408000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr1:78382400-78387800	Strong transcription	Left Ventricle	heart
17	chr1:78382400-78388000	Strong transcription	HSMMtube	muscle
18	chr1:78382400-78394000	Strong transcription	Skeletal Muscle Male	skeletal muscle
19	chr1:78382400-78405600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:78382800-78395800	Weak transcription	NHDF-Ad	bronchial
21	chr1:78383000-78400000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:78383200-78389800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:78383600-78391000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:78383600-78418600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:78383800-78387800	Strong transcription	Fetal Muscle Trunk	muscle
26	chr1:78383800-78389600	Strong transcription	Stomach Smooth Muscle	stomach
27	chr1:78383800-78404000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr1:78384000-78388200	Strong transcription	Aorta	Aorta
29	chr1:78384000-78395400	Weak transcription	Fetal Heart	heart
30	chr1:78384200-78392200	Weak transcription	Adipose Nuclei	Adipose
31	chr1:78384400-78387600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:78384400-78391800	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr1:78384400-78395400	Weak transcription	Right Ventricle	heart
34	chr1:78384600-78387000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:78384600-78389800	Weak transcription	NHLF	lung
36	chr1:78384600-78391800	Weak transcription	HUVEC	blood vessel
37	chr1:78384600-78396400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr1:78384600-78406000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:78385000-78391800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr1:78385200-78389800	Weak transcription	Fetal Lung	lung
41	chr1:78385200-78390800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:78385200-78400000	Weak transcription	Fetal Intestine Large	intestine
43	chr1:78385400-78387000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr1:78385400-78387400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr1:78385600-78396400	Weak transcription	Ovary	ovary
46	chr1:78386200-78387000	Weak transcription	Fetal Stomach	stomach
47	chr1:78386200-78387600	Strong transcription	Fetal Intestine Small	intestine
48	chr1:78386200-78392400	Weak transcription	Fetal Muscle Leg	muscle
49	chr1:78386400-78387000	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr1:78386400-78387600	Strong transcription	Duodenum Smooth Muscle	Duodenum

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