Variant report

Variant	rs16864466
Chromosome Location	chr1:171402905-171402906
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs16864447	1.00[EUR][1000 genomes]
rs56749748	1.00[EUR][1000 genomes]
rs58479321	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58982503	1.00[EUR][1000 genomes]
rs59256724	1.00[EUR][1000 genomes]
rs59719494	1.00[EUR][1000 genomes]
rs61013259	1.00[EUR][1000 genomes]
rs73036313	1.00[EUR][1000 genomes]
rs73036315	1.00[EUR][1000 genomes]
rs73036317	1.00[EUR][1000 genomes]
rs73036319	1.00[EUR][1000 genomes]
rs73036325	1.00[EUR][1000 genomes]
rs73036327	1.00[EUR][1000 genomes]
rs73036333	1.00[EUR][1000 genomes]
rs73036360	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73038304	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73038313	1.00[EUR][1000 genomes]
rs73041915	1.00[EUR][1000 genomes]
rs73041916	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	nsv470745	chr1:171381746-171409514	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv465628	chr1:171381746-171409515	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv548189	chr1:171381746-171409515	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171398800-171408400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:171401000-171403400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr1:171401200-171407600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:171401800-171403000	Enhancers	H1 Cell Line	embryonic stem cell
5	chr1:171402200-171404000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:171402200-171404200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:171402400-171403800	Weak transcription	Fetal Muscle Leg	muscle
8	chr1:171402600-171404000	Enhancers	A549	lung
9	chr1:171402600-171404000	Enhancers	NH-A	brain
10	chr1:171402600-171404800	Enhancers	Osteobl	bone
11	chr1:171402800-171403200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:171402800-171404200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:171402800-171404200	Enhancers	NHEK	skin
14	chr1:171402800-171405600	Enhancers	NHLF	lung

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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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