Variant report

Variant	rs72789325
Chromosome Location	chr16:31441194-31441195
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:31438871..31441365-chr16:31452629..31455736,3	MCF-7	breast:
2	chr16:31440219..31442143-chr16:31448496..31450520,2	MCF-7	breast:
3	chr16:31440314..31442946-chr16:31447999..31450957,2	K562	blood:
4	chr16:31440504..31442239-chr16:31445469..31447783,2	K562	blood:
5	chr16:31190516..31192691-chr16:31440671..31443953,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176723	Chromatin interaction
ENSG00000089280	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	0.83[ASN][1000 genomes]
rs72789324	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	0.83[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
rs72789325	SLC5A2	cis	lung	GTEx
rs72789325	AC026471.6	cis	lung	GTEx

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31439200-31447600	Weak transcription	Spleen	Spleen
2	chr16:31439600-31446600	Weak transcription	Esophagus	oesophagus
3	chr16:31439600-31453200	Weak transcription	Lung	lung
4	chr16:31439600-31453800	Weak transcription	Gastric	stomach
5	chr16:31439600-31454000	Weak transcription	Aorta	Aorta
6	chr16:31439800-31441800	Weak transcription	Left Ventricle	heart
7	chr16:31439800-31441800	Weak transcription	Right Ventricle	heart
8	chr16:31439800-31442200	Weak transcription	Psoas Muscle	Psoas
9	chr16:31439800-31442600	Enhancers	HSMMtube	muscle
10	chr16:31439800-31443000	Enhancers	Fetal Muscle Leg	muscle
11	chr16:31439800-31443200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr16:31439800-31445000	Weak transcription	Right Atrium	heart
13	chr16:31439800-31446800	Weak transcription	Ovary	ovary
14	chr16:31439800-31447200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr16:31439800-31451600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr16:31439800-31453200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr16:31439800-31453400	Weak transcription	Fetal Brain Female	brain
18	chr16:31440200-31442000	Enhancers	Fetal Muscle Trunk	muscle
19	chr16:31440200-31447600	Weak transcription	Pancreas	Pancrea
20	chr16:31440400-31453200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr16:31440600-31451800	Weak transcription	Brain Hippocampus Middle	brain
22	chr16:31440600-31453200	Weak transcription	Liver	Liver
23	chr16:31440800-31442000	Weak transcription	Duodenum Mucosa	Duodenum
24	chr16:31440800-31442000	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr16:31440800-31442000	Weak transcription	HSMM	muscle
26	chr16:31440800-31443000	Enhancers	Fetal Heart	heart
27	chr16:31441000-31442600	Enhancers	Fetal Intestine Large	intestine
28	chr16:31441000-31442800	Enhancers	Fetal Intestine Small	intestine
29	chr16:31441000-31443000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr16:31441000-31445400	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr16:31441000-31447600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr16:31441000-31453200	Weak transcription	Brain Anterior Caudate	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links