Variant report

Variant	rs58887979
Chromosome Location	chr1:171269010-171269011
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs16864312	1.00[ASN][1000 genomes]
rs16864314	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16864332	1.00[ASN][1000 genomes]
rs16864353	1.00[ASN][1000 genomes]
rs16864359	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16864362	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16864364	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16864368	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16864389	1.00[ASN][1000 genomes]
rs2038097	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28360425	1.00[ASN][1000 genomes]
rs28360434	1.00[ASN][1000 genomes]
rs28360435	1.00[ASN][1000 genomes]
rs45443493	1.00[ASN][1000 genomes]
rs45552133	1.00[ASN][1000 genomes]
rs45579736	0.80[AFR][1000 genomes]
rs6685422	1.00[ASN][1000 genomes]
rs6699241	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];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	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv10193	chr1:171128845-171414611	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv831882	chr1:171166224-171326083	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171264600-171269200	Enhancers	H1 Cell Line	embryonic stem cell
2	chr1:171264600-171269400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr1:171265200-171269200	Enhancers	H9 Cell Line	embryonic stem cell
4	chr1:171265400-171270400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr1:171266000-171269200	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr1:171266200-171269200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:171266200-171269200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:171266600-171279800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:171266600-171288400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:171268000-171270400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr1:171268200-171269600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr1:171268400-171269200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr1:171268600-171269400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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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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