Variant report

Variant	rs41465245
Chromosome Location	chr16:31339273-31339274
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFYB	chr16:31339243-31339535	GM12878	blood:	n/a	n/a
2	SIN3A	chr16:31339254-31339711	H1-hESC	embryonic stem cell:	n/a	n/a
3	RCOR1	chr16:31339221-31339441	K562	blood:	n/a	n/a
4	IKZF1	chr16:31339133-31339288	GM12878	blood:	n/a	n/a
5	MAZ	chr16:31339250-31339450	K562	blood:	n/a	n/a
6	MYC	chr16:31339108-31339401	NB4	blood:	n/a	n/a
7	MYC	chr16:31339253-31339308	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COX6A2-5	chr16:31338997-31340036	NONHSAT141893

Variant related genes	Relation type
ITGAM	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs34231527	1.00[AMR][1000 genomes]
rs41420744	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41468344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45466094	1.00[AMR][1000 genomes]
rs56809455	1.00[AMR][1000 genomes]
rs58372645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59932244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7196958	1.00[AMR][1000 genomes]
rs74015099	0.82[AFR][1000 genomes]
rs74015511	1.00[AMR][1000 genomes]
rs74018303	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:24 , 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	chr16:31333600-31339600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr16:31333600-31342400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr16:31333800-31342400	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr16:31334600-31339600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr16:31335200-31341800	Weak transcription	Primary B cells from peripheral blood	blood
9	chr16:31335800-31342000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr16:31336800-31339600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr16:31337000-31340800	Weak transcription	Placenta	Placenta
12	chr16:31338200-31340200	Strong transcription	Primary B cells from cord blood	blood
13	chr16:31338400-31339400	Enhancers	Thymus	Thymus
14	chr16:31338400-31342600	Weak transcription	Gastric	stomach
15	chr16:31338800-31342000	Strong transcription	Spleen	Spleen
16	chr16:31339000-31339400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr16:31339000-31339400	Enhancers	Fetal Thymus	thymus
18	chr16:31339000-31340000	Enhancers	GM12878-XiMat	blood
19	chr16:31339000-31340200	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr16:31339000-31340200	Enhancers	Dnd41	blood
21	chr16:31339200-31339600	Enhancers	H1 Cell Line	embryonic stem cell
22	chr16:31339200-31339800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr16:31339200-31340000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr16:31339200-31340000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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