Variant report

Variant	rs7416182
Chromosome Location	chr1:56104116-56104117
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1039295	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11206645	1.00[EUR][1000 genomes]
rs1165460	1.00[EUR][1000 genomes]
rs12059018	1.00[EUR][1000 genomes]
rs12068867	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12071564	1.00[EUR][1000 genomes]
rs12076746	1.00[EUR][1000 genomes]
rs12081733	1.00[EUR][1000 genomes]
rs12088041	1.00[EUR][1000 genomes]
rs12097818	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs1392137	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17112410	1.00[EUR][1000 genomes]
rs17112413	1.00[EUR][1000 genomes]
rs28475680	1.00[EUR][1000 genomes]
rs59236443	1.00[EUR][1000 genomes]
rs59539072	1.00[EUR][1000 genomes]
rs60149406	1.00[EUR][1000 genomes]
rs6677373	1.00[EUR][1000 genomes]
rs7520444	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461617	chr1:56055190-56123510	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv546303	chr1:56055190-56123510	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv1014866	chr1:56059054-56129092	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv526148	chr1:56101597-56146450	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56098800-56105800	Weak transcription	Fetal Stomach	stomach
2	chr1:56099000-56105200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:56099000-56106600	Weak transcription	Ovary	ovary
4	chr1:56099200-56105800	Weak transcription	Fetal Kidney	kidney
5	chr1:56100600-56106600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:56100800-56104800	Weak transcription	Hela-S3	cervix
7	chr1:56100800-56106600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr1:56101200-56104200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:56101200-56105000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:56101200-56105800	Weak transcription	Psoas Muscle	Psoas
11	chr1:56101800-56106600	Weak transcription	Fetal Lung	lung
12	chr1:56102200-56106000	Weak transcription	NHLF	lung
13	chr1:56102400-56105200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr1:56102400-56106000	Weak transcription	Aorta	Aorta
15	chr1:56102400-56106400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:56102600-56105800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:56102800-56105000	Weak transcription	Osteobl	bone
18	chr1:56103000-56106400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:56103400-56106000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr1:56103400-56106400	Weak transcription	NHDF-Ad	bronchial
21	chr1:56103400-56107000	Weak transcription	Gastric	stomach
22	chr1:56103800-56104800	Enhancers	Fetal Heart	heart
23	chr1:56104000-56105600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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