Variant report

Variant	rs72789324
Chromosome Location	chr16:31440432-31440433
allele	C/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	FOS	chr16:31439980-31440543	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr16:31439985-31440527	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr16:31439986-31440433	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:31438153..31440436-chr16:31470611..31472702,2	K562	blood:
2	chr16:31438871..31441365-chr16:31452629..31455736,3	MCF-7	breast:
3	chr16:31440219..31442143-chr16:31448496..31450520,2	MCF-7	breast:
4	chr16:31440314..31442946-chr16:31447999..31450957,2	K562	blood:

Variant related genes	Relation type
COX6A2	TF binding region
ENSG00000140691	Chromatin interaction
ENSG00000176723	Chromatin interaction
ENSG00000260267	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11859569	0.84[ASN][1000 genomes]
rs72789325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72789337	0.90[AFR][1000 genomes]
rs9934108	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
5	nsv905747	chr16:31394179-31888684	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	123 gene(s)	inside rSNPs	diseases
6	nsv1066280	chr16:31396464-31452067	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv905748	chr16:31427678-31559220	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	94 gene(s)	inside rSNPs	diseases
8	nsv905749	chr16:31427678-31565597	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	96 gene(s)	inside rSNPs	diseases
9	nsv905750	chr16:31427678-31587662	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	98 gene(s)	inside rSNPs	diseases
10	nsv905751	chr16:31431360-31489033	Bivalent Enhancer Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	82 gene(s)	inside rSNPs	diseases
11	nsv905752	chr16:31436932-31565597	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	95 gene(s)	inside rSNPs	diseases
12	nsv905753	chr16:31436932-31587662	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs72789324	SLC5A2	cis	lung	GTEx
rs72789324	AC026471.6	cis	lung	GTEx

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31439200-31440600	Enhancers	HMEC	breast
2	chr16:31439200-31447600	Weak transcription	Spleen	Spleen
3	chr16:31439600-31441000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr16:31439600-31446600	Weak transcription	Esophagus	oesophagus
5	chr16:31439600-31453200	Weak transcription	Lung	lung
6	chr16:31439600-31453800	Weak transcription	Gastric	stomach
7	chr16:31439600-31454000	Weak transcription	Aorta	Aorta
8	chr16:31439800-31440600	Enhancers	Brain Hippocampus Middle	brain
9	chr16:31439800-31440600	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr16:31439800-31440600	Enhancers	Stomach Smooth Muscle	stomach
11	chr16:31439800-31440800	Flanking Active TSS	Fetal Heart	heart
12	chr16:31439800-31440800	Enhancers	HSMM	muscle
13	chr16:31439800-31441800	Weak transcription	Left Ventricle	heart
14	chr16:31439800-31441800	Weak transcription	Right Ventricle	heart
15	chr16:31439800-31442200	Weak transcription	Psoas Muscle	Psoas
16	chr16:31439800-31442600	Enhancers	HSMMtube	muscle
17	chr16:31439800-31443000	Enhancers	Fetal Muscle Leg	muscle
18	chr16:31439800-31443200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr16:31439800-31445000	Weak transcription	Right Atrium	heart
20	chr16:31439800-31446800	Weak transcription	Ovary	ovary
21	chr16:31439800-31447200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr16:31439800-31451600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr16:31439800-31453200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr16:31439800-31453400	Weak transcription	Fetal Brain Female	brain
25	chr16:31440000-31440800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr16:31440000-31441000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr16:31440200-31440600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr16:31440200-31442000	Enhancers	Fetal Muscle Trunk	muscle
29	chr16:31440200-31447600	Weak transcription	Pancreas	Pancrea
30	chr16:31440400-31440600	Enhancers	Liver	Liver
31	chr16:31440400-31440600	Bivalent Enhancer	NHEK	skin
32	chr16:31440400-31440800	Enhancers	Duodenum Mucosa	Duodenum
33	chr16:31440400-31441000	Enhancers	Brain Anterior Caudate	brain
34	chr16:31440400-31441000	Flanking Active TSS	Fetal Intestine Large	intestine
35	chr16:31440400-31441000	Flanking Active TSS	Fetal Intestine Small	intestine
36	chr16:31440400-31453200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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