Variant report

Variant	rs8046452
Chromosome Location	chr16:31538739-31538740
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
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	GATA1	chr16:31538429-31539850	PBDE	blood:	n/a	chr16:31538750-31538760 chr16:31539013-31539021 chr16:31538751-31538760

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:31538718-31538768	CMK	blood:	n/a
2	chr16:31538718-31538768	AG04450	lung:	fetal
3	chr16:31538718-31538768	ovcar-3	ovarian:	n/a
4	chr16:31538718-31538768	ProgFib	skin:	n/a
5	chr16:31538718-31538768	HAEpiC	amniotic membrane:	n/a
6	chr16:31538718-31538768	BE2_C	brain:	n/a
7	chr16:31538718-31538768	HNPCEpiC	eye:	n/a
8	chr16:31538718-31538768	HepG2	liver:	n/a
9	chr16:31538718-31538768	U87	brain:	n/a
10	chr16:31538718-31538768	ECC-1	luminal epithelium:	n/a
11	chr16:31538718-31538768	NH-A	brain:	n/a
12	chr16:31538718-31538768	AG04449	skin:	fetal
13	chr16:31538718-31538768	BJ	skin:	n/a
14	chr16:31538718-31538768	Jurkat	blood:	n/a
15	chr16:31538718-31538768	SK-N-SH	brain:	n/a
16	chr16:31538718-31538768	HRPEpiC	eye:	n/a
17	chr16:31538718-31538768	AoSMC	blood vessel:	n/a
18	chr16:31538718-31538768	LNCaP	prostate:	n/a
19	chr16:31538718-31538768	K562	blood:	n/a
20	chr16:31538718-31538768	HRE	kidney:	n/a
21	chr16:31538718-31538768	NB4	blood:	n/a
22	chr16:31538718-31538768	GM12891	blood:	n/a
23	chr16:31538718-31538768	SK-N-MC	brain:	n/a
24	chr16:31538718-31538768	NHBE	bronchial:	n/a
25	chr16:31538718-31538768	T-47D	breast:	n/a
26	chr16:31538718-31538768	GM12892	blood:	n/a
27	chr16:31538718-31538768	SAEC	small airway:	n/a
28	chr16:31538718-31538768	A549	lung:	n/a
29	chr16:31538718-31538768	HMEC	breast:	n/a
30	chr16:31538718-31538768	HEK293	kidney:	embryo
31	chr16:31538718-31538768	AG09319	gingival:	n/a
32	chr16:31538718-31538768	GM19239	blood:	n/a
33	chr16:31538718-31538768	MCF-7	breast:	n/a
34	chr16:31538718-31538768	HCF	heart:	n/a
35	chr16:31538718-31538768	SKMC	muscle:	n/a
36	chr16:31538718-31538768	NT2-D1	testis:	n/a
37	chr16:31538718-31538768	PANC-1	pancreas:	n/a
38	chr16:31538718-31538768	HPAEpiC	pulmonary alveolar:	n/a
39	chr16:31538718-31538768	Caco-2	colon:	n/a
40	chr16:31538718-31538768	HUVEC	blood vessel:	n/a
41	chr16:31538718-31538768	Hepatocyte	liver:	n/a
42	chr16:31538718-31538768	HCT-116	colon:	n/a
43	chr16:31538718-31538768	PFSK-1	brain:	n/a
44	chr16:31538718-31538768	GM12878	blood:	n/a
45	chr16:31538718-31538768	GM06990	blood:	n/a
46	chr16:31538718-31538768	HIPEpiC	eye:	n/a
47	chr16:31538718-31538768	AG09309	skin:	n/a
48	chr16:31538718-31538768	SK-N-SH_RA	brain:	n/a
49	chr16:31538718-31538768	MCF10A-Er-Src	breast:	n/a
50	chr16:31538718-31538768	RPTEC	kidney:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31531466..31534237-chr16:31536247..31538808,3	K562	blood:
2	chr16:31537316..31539067-chr16:31539316..31542062,2	K562	blood:
3	chr16:31493200..31498370-chr16:31536887..31540209,4	K562	blood:
4	chr16:31517756..31521127-chr16:31538452..31541350,5	K562	blood:
5	chr16:31517850..31520614-chr16:31538452..31541283,3	K562	blood:

No data

Variant related genes	Relation type
AHSP	TF binding region
AHSP	CpG island
ENSG00000140688	Chromatin interaction
ENSG00000260625	Chromatin interaction
ENSG00000140675	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1123498	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12927208	0.99[ASN][1000 genomes]
rs28692853	0.92[ASN][1000 genomes]
rs28813115	0.99[ASN][1000 genomes]
rs34497199	0.99[ASN][1000 genomes]
rs34742827	0.99[ASN][1000 genomes]
rs35856922	0.99[ASN][1000 genomes]
rs4468642	1.00[ASN][1000 genomes]
rs4550470	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4587995	1.00[ASN][1000 genomes]
rs4889673	0.96[ASN][1000 genomes]
rs6565241	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6565242	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67464975	0.99[ASN][1000 genomes]
rs7199801	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8049216	0.99[ASN][1000 genomes]
rs8050390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8057207	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8057401	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9935222	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv1060240	chr16:31495873-31581450	Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
10	esv1823209	chr16:31521276-31580272	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	esv3344221	chr16:31526786-31821640	Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
12	esv3323903	chr16:31526802-31821640	Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
13	esv3504445	chr16:31526873-31821580	Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
14	esv3504446	chr16:31526873-31821580	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
15	esv3366795	chr16:31534951-31827424	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8046452	AC026471.6	cis	lung	GTEx
rs8046452	SLC5A2	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31537400-31538800	Enhancers	K562	blood

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