Variant report

Variant	rs34081766
Chromosome Location	chr16:31489741-31489742
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr16:31487646-31489858	HepG2	liver:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31489343..31491711-chr16:31717962..31720192,2	MCF-7	breast:
2	chr16:31486386..31493720-chr16:31496174..31501149,12	MCF-7	breast:
3	chr16:31486411..31490471-chr16:31517300..31521270,7	K562	blood:
4	chr16:31488206..31490925-chr16:31493306..31495304,2	MCF-7	breast:
5	chr16:31489314..31489901-chr16:31498447..31499189,2	MCF-7	breast:
6	chr16:31489272..31492078-chr16:31509160..31511521,2	K562	blood:
7	chr16:31487738..31490319-chr16:31724484..31726664,2	K562	blood:
8	chr16:31487154..31492170-chr16:31516854..31521226,9	K562	blood:
9	chr16:31487920..31490610-chr16:31726146..31728854,2	K562	blood:
10	chr16:31466606..31474995-chr16:31481116..31490982,25	MCF-7	breast:
11	chr16:31487495..31490933-chr16:31720453..31723394,4	MCF-7	breast:
12	chr16:31463232..31465351-chr16:31489348..31492023,2	K562	blood:
13	chr16:31479635..31481245-chr16:31488025..31490096,2	MCF-7	breast:
14	chr16:31465649..31475592-chr16:31481764..31491028,24	MCF-7	breast:
15	chr16:31486327..31489778-chr16:31498037..31501156,4	K562	blood:
16	chr16:31485287..31490245-chr16:31497773..31501253,8	MCF-7	breast:
17	chr16:31487843..31490472-chr16:31518223..31521167,4	MCF-7	breast:

No data

Variant related genes	Relation type
SLC5A2	TF binding region
ENSG00000260740	Chromatin interaction
ENSG00000131797	Chromatin interaction
ENSG00000197302	Chromatin interaction
ENSG00000140675	Chromatin interaction
ENSG00000260625	Chromatin interaction
ENSG00000260267	Chromatin interaction
ENSG00000140688	Chromatin interaction
ENSG00000261474	Chromatin interaction
ENSG00000261731	Chromatin interaction
ENSG00000140691	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11150626	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11865835	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13143	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13337037	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3934739	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6565235	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6565236	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7188278	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8062314	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9926717	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9934336	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv905754	chr16:31451699-31565597	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs34081766	AC026471.6	cis	lung	GTEx
rs34081766	SLC5A2	cis	lung	GTEx

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31484400-31492000	Weak transcription	Right Atrium	heart
2	chr16:31485000-31490000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr16:31485000-31490800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr16:31485200-31489800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr16:31485200-31490600	Weak transcription	HSMMtube	muscle
6	chr16:31485800-31491200	Strong transcription	Muscle Satellite Cultured Cells	--
7	chr16:31486200-31490000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr16:31486200-31491000	Strong transcription	Osteobl	bone
9	chr16:31486400-31490600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr16:31486400-31491400	Strong transcription	NHLF	lung
11	chr16:31486600-31490400	Strong transcription	Adipose Nuclei	Adipose
12	chr16:31486600-31490800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr16:31486600-31491200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr16:31486600-31491400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr16:31486600-31495800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr16:31486800-31495800	Weak transcription	HMEC	breast
17	chr16:31487400-31493400	Weak transcription	HSMM	muscle
18	chr16:31487600-31491800	Weak transcription	NHDF-Ad	bronchial
19	chr16:31488200-31490600	Enhancers	Placenta Amnion	Placenta Amnion
20	chr16:31488800-31491000	Weak transcription	HUVEC	blood vessel
21	chr16:31488800-31492200	Weak transcription	Small Intestine	intestine
22	chr16:31488800-31495800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr16:31489000-31489800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr16:31489000-31489800	Strong transcription	Colon Smooth Muscle	Colon
25	chr16:31489000-31489800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
26	chr16:31489000-31489800	Genic enhancers	Spleen	Spleen
27	chr16:31489000-31491000	Strong transcription	Fetal Stomach	stomach
28	chr16:31489000-31491400	Genic enhancers	Stomach Smooth Muscle	stomach
29	chr16:31489000-31492000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr16:31489000-31495800	Weak transcription	Gastric	stomach
31	chr16:31489200-31489800	Flanking Active TSS	K562	blood
32	chr16:31489200-31490000	Weak transcription	Brain Hippocampus Middle	brain
33	chr16:31489200-31490200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr16:31489200-31490200	Weak transcription	Fetal Heart	heart
35	chr16:31489200-31490400	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr16:31489200-31491400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr16:31489400-31489800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr16:31489400-31489800	Flanking Active TSS	HepG2	liver
39	chr16:31489400-31490000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr16:31489400-31490000	Enhancers	Liver	Liver
41	chr16:31489400-31490000	Genic enhancers	Placenta	Placenta
42	chr16:31489400-31490400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr16:31489400-31490600	Genic enhancers	Fetal Intestine Small	intestine
44	chr16:31489400-31490600	Weak transcription	Fetal Kidney	kidney
45	chr16:31489400-31490600	Enhancers	Pancreas	Pancrea
46	chr16:31489400-31490800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr16:31489400-31490800	Strong transcription	Fetal Muscle Trunk	muscle
48	chr16:31489400-31490800	Strong transcription	Lung	lung
49	chr16:31489400-31491000	Strong transcription	Fetal Muscle Leg	muscle
50	chr16:31489400-31491200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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