Variant report

Variant	rs61321352
Chromosome Location	chr1:187443483-187443484
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs74135624	1.00[AFR][1000 genomes]
rs74135625	1.00[AFR][1000 genomes]
rs74135629	1.00[AMR][1000 genomes]
rs74135631	1.00[AMR][1000 genomes]
rs74135634	1.00[AMR][1000 genomes]
rs74135635	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872590	chr1:186557453-187500338	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv492108	chr1:186969793-187745761	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv999634	chr1:186979839-187759289	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv535225	chr1:186979839-187759289	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	esv2750817	chr1:187070355-187989594	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1000513	chr1:187295282-187540052	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv535227	chr1:187295282-187540052	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1003635	chr1:187309243-187591203	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1008766	chr1:187412042-187467969	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
10	esv2756261	chr1:187418625-187923276	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr1:187439400-187446200	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr1:187439400-187446400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr1:187440200-187443600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:187441000-187446200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr1:187441600-187443600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr1:187441600-187445400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:187443000-187443800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:187443400-187443800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:187443400-187443800	Enhancers	Fetal Heart	heart
10	chr1:187443400-187443800	Enhancers	Fetal Lung	lung
11	chr1:187443400-187444000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr1:187443400-187444000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr1:187443400-187444200	Enhancers	iPS-18 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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