Variant report

Variant	rs73562962
Chromosome Location	chr19:42146256-42146257
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs59128505	1.00[AMR][1000 genomes]
rs59800972	1.00[AMR][1000 genomes]
rs61735249	1.00[AMR][1000 genomes]
rs73545108	1.00[AMR][1000 genomes]
rs73545113	1.00[AMR][1000 genomes]
rs73545114	1.00[AMR][1000 genomes]
rs73545142	1.00[AMR][1000 genomes]
rs73560870	1.00[AMR][1000 genomes]
rs73562908	1.00[AMR][1000 genomes]
rs73562909	1.00[AMR][1000 genomes]
rs73562911	1.00[AMR][1000 genomes]
rs73562915	1.00[AMR][1000 genomes]
rs73562917	1.00[AMR][1000 genomes]
rs73562925	1.00[AMR][1000 genomes]
rs73562945	1.00[AMR][1000 genomes]
rs73562961	1.00[AMR][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	nsv1057624	chr19:42057334-42152828	Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1058847	chr19:42057334-42172442	Bivalent/Poised TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1063241	chr19:42057334-42175160	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv519408	chr19:42066279-42171906	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3319146	chr19:42082639-42212929	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	esv3319147	chr19:42082742-42212770	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	esv3422975	chr19:42106166-42212774	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42143200-42148600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr19:42143600-42146400	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr19:42143600-42146600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr19:42144000-42146400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr19:42144000-42147200	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr19:42144000-42147400	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr19:42144000-42147600	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr19:42144200-42146400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr19:42144200-42146400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr19:42144400-42147000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr19:42144400-42148600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr19:42144600-42146600	Enhancers	Primary T cells fromperipheralblood	blood
13	chr19:42144600-42147000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr19:42144600-42147000	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr19:42145400-42147600	Enhancers	Primary B cells from cord blood	blood
16	chr19:42145600-42147200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
17	chr19:42146200-42146600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr19:42146200-42152600	Weak transcription	Esophagus	oesophagus

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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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