Variant report

Variant	rs72664304
Chromosome Location	chr1:56948290-56948291
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10888971	0.87[EUR][1000 genomes]
rs11206824	0.85[EUR][1000 genomes]
rs17114036	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17114046	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1815487	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs2151391	0.84[EUR][1000 genomes]
rs2780857	0.87[EUR][1000 genomes]
rs55694910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56186267	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56322312	0.82[EUR][1000 genomes]
rs56348932	0.80[EUR][1000 genomes]
rs6421496	0.84[EUR][1000 genomes]
rs6588634	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6588635	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6670090	0.86[EUR][1000 genomes]
rs6691109	0.84[EUR][1000 genomes]
rs72664303	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72664318	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72664324	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72664332	0.80[EUR][1000 genomes]
rs72664335	0.80[EUR][1000 genomes]
rs72664341	0.82[EUR][1000 genomes]
rs9970807	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56943800-56957000	Weak transcription	HSMM	muscle
2	chr1:56943800-56957200	Weak transcription	Psoas Muscle	Psoas
3	chr1:56943800-56957400	Weak transcription	Fetal Intestine Small	intestine
4	chr1:56943800-56957600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:56943800-56959400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:56944000-56957400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:56944400-56949400	Enhancers	HepG2	liver
8	chr1:56944400-56957200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr1:56944400-56957200	Weak transcription	Fetal Muscle Leg	muscle
10	chr1:56944400-56959600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:56944600-56956400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:56944600-56957400	Weak transcription	Lung	lung
13	chr1:56944600-56957800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr1:56944800-56955800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:56944800-56957200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:56944800-56957200	Weak transcription	Fetal Stomach	stomach
17	chr1:56944800-56957200	Weak transcription	Right Ventricle	heart
18	chr1:56944800-56957400	Weak transcription	Left Ventricle	heart
19	chr1:56944800-56960800	Weak transcription	Fetal Kidney	kidney
20	chr1:56945200-56957200	Weak transcription	Placenta	Placenta
21	chr1:56945800-56957200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr1:56947800-56950200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:56948200-56950200	Enhancers	HUVEC	blood vessel

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