Variant report

Variant	rs58978222
Chromosome Location	chr1:9891539-9891540
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs4988680	1.00[AMR][1000 genomes]
rs6664451	1.00[AMR][1000 genomes]
rs72855710	1.00[AMR][1000 genomes]
rs72855712	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72855717	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72855750	1.00[AMR][1000 genomes]
rs72871215	1.00[AMR][1000 genomes]
rs72871220	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72871223	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72871231	1.00[AMR][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	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	nsv871610	chr1:9655795-10008221	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	esv3372906	chr1:9838995-10052992	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9885600-9894400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:9885800-9895200	Weak transcription	Brain Hippocampus Middle	brain
3	chr1:9885800-9895600	Weak transcription	Spleen	Spleen
4	chr1:9885800-9896200	Weak transcription	Psoas Muscle	Psoas
5	chr1:9886000-9893800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:9886000-9895600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:9886000-9895600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:9886000-9895600	Weak transcription	Right Atrium	heart
9	chr1:9886200-9895400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr1:9887000-9895400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:9887200-9894000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:9887800-9894400	Weak transcription	HMEC	breast
13	chr1:9888000-9895200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:9891000-9891800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:9891200-9891600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:9891200-9891600	Enhancers	Esophagus	oesophagus
17	chr1:9891200-9891800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:9891400-9891600	Flanking Active TSS	NHEK	skin
19	chr1:9891400-9894600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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

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