Variant report

Variant	rs73120914
Chromosome Location	chr1:222616819-222616820
allele	G/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:13)

rs_ID	r²[population]
rs73119050	1.00[EUR][1000 genomes]
rs73119052	1.00[EUR][1000 genomes]
rs73119054	1.00[EUR][1000 genomes]
rs73119058	1.00[EUR][1000 genomes]
rs73119062	1.00[EUR][1000 genomes]
rs73119064	1.00[EUR][1000 genomes]
rs73119071	1.00[EUR][1000 genomes]
rs73119083	1.00[EUR][1000 genomes]
rs73119086	1.00[EUR][1000 genomes]
rs73119092	1.00[EUR][1000 genomes]
rs73119097	1.00[EUR][1000 genomes]
rs73120917	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73120920	1.00[EUR][1000 genomes]

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	nsv873203	chr1:222332906-222775000	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222614800-222628000	Weak transcription	Fetal Heart	heart
2	chr1:222615000-222628000	Weak transcription	Pancreas	Pancrea
3	chr1:222615600-222617800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr1:222615600-222618000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:222615800-222618000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr1:222616000-222617600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:222616000-222618000	Enhancers	Primary T cells from cord blood	blood
8	chr1:222616400-222617600	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr1:222616400-222618600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:222616600-222617600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr1:222616600-222617600	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr1:222616600-222617600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:222616600-222618200	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr1:222616800-222617600	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr1:222616800-222617800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr1:222616800-222620000	Weak transcription	Primary T cells fromperipheralblood	blood

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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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