Variant report

Variant	rs7527466
Chromosome Location	chr1:103576860-103576861
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12129927	1.00[JPT][hapmap]
rs12140939	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1538043	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1538044	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1538045	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2622875	1.00[JPT][hapmap]
rs6577351	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6674315	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7521890	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7537288	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7543626	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7556513	1.00[CHB][hapmap];1.00[ASN][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	nsv522922	chr1:103305021-103764640	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830893	chr1:103458498-103635579	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv931600	chr1:103548397-104161031	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv498007	chr1:103573857-104107589	Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103574600-103577600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:103574600-103577800	Weak transcription	HSMMtube	muscle
3	chr1:103574600-103578400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:103575200-103577600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:103575200-103577600	Weak transcription	NHEK	skin
6	chr1:103575200-103577600	Weak transcription	Osteobl	bone
7	chr1:103575200-103577800	Weak transcription	A549	lung
8	chr1:103575200-103578200	Enhancers	Hela-S3	cervix
9	chr1:103575200-103578400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:103575200-103578600	Enhancers	HSMM	muscle
11	chr1:103575200-103579600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:103575400-103577600	Weak transcription	NH-A	brain
13	chr1:103575800-103578600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:103575800-103578600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:103576200-103578400	Enhancers	HMEC	breast
16	chr1:103576400-103577200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:103576400-103577600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:103576400-103578000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr1:103576600-103577600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:103576800-103577200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr1:103576800-103578000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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