Variant report

Variant	rs7527318
Chromosome Location	chr1:152224948-152224949
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12071181	0.92[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs12073518	1.00[AMR][1000 genomes]
rs12073613	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16833966	1.00[MEX][hapmap]
rs6587665	0.82[YRI][hapmap]
rs7537147	1.00[AMR][1000 genomes]
rs7541297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs878649	1.00[ASW][hapmap];1.00[MEX][hapmap]

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	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv547853	chr1:152008671-152236760	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv1014095	chr1:152104486-152454591	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv946325	chr1:152221751-152240196	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS	lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152219400-152230200	Weak transcription	Ovary	ovary
2	chr1:152220800-152230400	Weak transcription	Brain Angular Gyrus	brain
3	chr1:152222200-152225600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:152223200-152230400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr1:152223400-152228400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr1:152223600-152225400	Enhancers	HMEC	breast
7	chr1:152223600-152229600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:152223800-152225200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:152224000-152225400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:152224400-152225200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:152224400-152225200	Flanking Active TSS	NHEK	skin
12	chr1:152224400-152226200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr1:152224600-152225200	Weak transcription	Aorta	Aorta
14	chr1:152224600-152225400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:152224600-152230400	Weak transcription	Fetal Kidney	kidney
16	chr1:152224800-152225800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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