Variant report

Variant	rs1764630
Chromosome Location	chr1:197191749-197191750
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1764626	0.86[AFR][1000 genomes]
rs1764627	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2821105	1.00[MEX][hapmap]
rs2821124	1.00[MEX][hapmap]
rs3902057	1.00[MEX][hapmap]
rs473663	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs476505	1.00[YRI][hapmap]
rs516640	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs613010	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6428392	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs6680205	1.00[AMR][1000 genomes]
rs672769	1.00[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv873072	chr1:197079671-197221248	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv873073	chr1:197107074-197221248	Flanking Active TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197172600-197194200	Weak transcription	Brain Hippocampus Middle	brain
2	chr1:197190000-197204400	Weak transcription	Left Ventricle	heart
3	chr1:197190200-197203000	Weak transcription	Aorta	Aorta
4	chr1:197190600-197192000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:197191200-197191800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:197191200-197191800	Enhancers	Psoas Muscle	Psoas
7	chr1:197191200-197191800	Enhancers	HMEC	breast
8	chr1:197191200-197192000	Enhancers	Placenta	Placenta
9	chr1:197191200-197192200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:197191400-197191800	Enhancers	H9 Cell Line	embryonic stem cell
11	chr1:197191400-197191800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr1:197191400-197191800	Enhancers	Fetal Lung	lung
13	chr1:197191400-197191800	Flanking Active TSS	NHEK	skin
14	chr1:197191400-197192000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:197191400-197192200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:197191400-197192400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:197191600-197192200	Enhancers	Fetal Heart	heart

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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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