Variant report

Variant	rs41519244
Chromosome Location	chr16:31340914-31340915
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2230425	0.82[AFR][1000 genomes]
rs41474849	1.00[AFR][1000 genomes]
rs41476945	0.91[AFR][1000 genomes]
rs41507448	0.91[AFR][1000 genomes]
rs41508646	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
2	nsv1059459	chr16:31299088-31462251	Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv542901	chr16:31299088-31462251	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	esv3392534	chr16:31303038-31573066	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	104 gene(s)	inside rSNPs	diseases
5	nsv1058992	chr16:31337455-31414881	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv542902	chr16:31337455-31414881	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv1061980	chr16:31338462-31415471	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 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	chr16:31323000-31344600	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr16:31331800-31342000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr16:31332200-31342000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr16:31333600-31342400	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr16:31333800-31342400	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr16:31335200-31341800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr16:31335800-31342000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr16:31338400-31342600	Weak transcription	Gastric	stomach
9	chr16:31338800-31342000	Strong transcription	Spleen	Spleen
10	chr16:31339800-31342000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr16:31339800-31342200	Weak transcription	Thymus	Thymus
12	chr16:31340200-31342200	Weak transcription	Primary B cells from cord blood	blood
13	chr16:31340200-31342200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr16:31340400-31342000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr16:31340400-31342000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr16:31340800-31341200	Enhancers	H9 Cell Line	embryonic stem cell
17	chr16:31340800-31341400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr16:31340800-31342200	Bivalent/Poised TSS	ES-WA7 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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