Variant report

Variant	rs7229430
Chromosome Location	chr18:29066083-29066084
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10502571	1.00[CEU][hapmap]
rs1460595	0.89[ASN][1000 genomes]
rs16961975	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16961997	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1841395	0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7229490	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs8093731	1.00[CEU][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	nsv1066692	chr18:28856066-29190505	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv543674	chr18:28856066-29190505	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv916545	chr18:28898800-29166364	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv833615	chr18:29008396-29192976	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29059000-29066600	Weak transcription	Esophagus	oesophagus
2	chr18:29062000-29066200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr18:29064400-29069000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr18:29065400-29071800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr18:29065600-29067200	Enhancers	NHEK	skin
6	chr18:29065600-29068000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr18:29065600-29068400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr18:29065600-29070200	Enhancers	HMEC	breast
9	chr18:29065800-29066400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr18:29065800-29066600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr18:29066000-29066200	Active TSS	Ovary	ovary
12	chr18:29066000-29066400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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