Variant report

Variant	rs74015510
Chromosome Location	chr16:31366848-31366849
allele	A/G
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	JUN	chr16:31365609-31367036	K562	blood:	n/a	chr16:31366449-31366460 chr16:31366448-31366456 chr16:31366446-31366457 chr16:31366451-31366458 chr16:31366446-31366458

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:31364585..31367756-chr16:31369594..31371710,3	K562	blood:
2	chr16:31191175..31193131-chr16:31364382..31367193,2	K562	blood:

Variant related genes	Relation type
ITGAX	TF binding region
ENSG00000089280	Chromatin interaction
ENSG00000140678	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11574629	0.89[AMR][1000 genomes]
rs59668899	0.89[AMR][1000 genomes]
rs61175519	0.89[AMR][1000 genomes]
rs7192505	0.89[AMR][1000 genomes]
rs7198540	0.89[AMR][1000 genomes]
rs74015509	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8045402	0.89[AMR][1000 genomes]
rs8045430	0.89[AMR][1000 genomes]
rs8056264	0.89[AMR][1000 genomes]
rs8058958	0.89[AMR][1000 genomes]
rs8060548	0.89[AMR][1000 genomes]
rs8063024	0.89[AMR][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	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
2	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
3	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
4	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
5	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
6	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
7	nsv833194	chr16:31358179-31528545	Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31343000-31400800	Weak transcription	Right Atrium	heart
2	chr16:31361200-31368000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr16:31363800-31368200	Weak transcription	Fetal Muscle Leg	muscle
4	chr16:31364200-31367400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr16:31364400-31370200	Enhancers	Primary T cells fromperipheralblood	blood
6	chr16:31365600-31367000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr16:31365600-31367000	Flanking Active TSS	GM12878-XiMat	blood
8	chr16:31365600-31367200	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr16:31365600-31367200	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr16:31365600-31368000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr16:31365600-31368600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr16:31365600-31369200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
13	chr16:31365600-31369800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr16:31365800-31367200	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr16:31365800-31367800	Enhancers	Spleen	Spleen
16	chr16:31366000-31367200	Bivalent Enhancer	Placenta	Placenta
17	chr16:31366000-31368800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
18	chr16:31366200-31367000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr16:31366400-31367000	Flanking Active TSS	Primary B cells from peripheral blood	blood
20	chr16:31366400-31367400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr16:31366400-31368200	Active TSS	Adipose Nuclei	Adipose
22	chr16:31366400-31369200	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr16:31366600-31367400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
24	chr16:31366600-31367400	Active TSS	Brain Hippocampus Middle	brain
25	chr16:31366600-31368200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr16:31366600-31369800	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr16:31366600-31369800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr16:31366800-31367000	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr16:31366800-31367800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr16:31366800-31368000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr16:31366800-31368000	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr16:31366800-31368000	Weak transcription	A549	lung
33	chr16:31366800-31368200	Weak transcription	Colonic Mucosa	Colon
34	chr16:31366800-31368400	Weak transcription	Fetal Thymus	thymus
35	chr16:31366800-31368800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr16:31366800-31368800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr16:31366800-31369000	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr16:31366800-31369200	Weak transcription	Lung	lung

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