Variant report

Variant	rs61746393
Chromosome Location	chr22:32435510-32435511
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP1	chr22:32435445-32435725	H1-hESC	embryonic stem cell:	n/a	n/a
2	ZBTB33	chr22:32435385-32435736	K562	blood:	n/a	n/a
3	EP300	chr22:32435461-32435721	T-47D	breast:	n/a	n/a
4	USF2	chr22:32435338-32435517	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:32435499-32435549	HCF	heart:	n/a
2	chr22:32435499-32435549	HepG2	liver:	n/a
3	chr22:32435499-32435549	ovcar-3	ovarian:	n/a
4	chr22:32435499-32435549	HEK293	kidney:	embryo
5	chr22:32435499-32435549	GM12891	blood:	n/a
6	chr22:32435499-32435549	SKMC	muscle:	n/a
7	chr22:32435499-32435549	AG09319	gingival:	n/a
8	chr22:32435499-32435549	NHBE	bronchial:	n/a
9	chr22:32435499-32435549	HRPEpiC	eye:	n/a
10	chr22:32435499-32435549	HUVEC	blood vessel:	n/a
11	chr22:32435499-32435549	ECC-1	luminal epithelium:	n/a
12	chr22:32435499-32435549	Caco-2	colon:	n/a
13	chr22:32435499-32435549	MCF-7	breast:	n/a
14	chr22:32435499-32435549	AG04450	lung:	fetal
15	chr22:32435499-32435549	IMR90	lung:	fetal
16	chr22:32435499-32435549	HCM	heart:	n/a
17	chr22:32435499-32435549	GM19239	blood:	n/a
18	chr22:32435499-32435549	HCPEpiC	choroid plexus:	n/a
19	chr22:32435499-32435549	PrEC	prostate:	n/a
20	chr22:32435499-32435549	HAEpiC	amniotic membrane:	n/a
21	chr22:32435499-32435549	PFSK-1	brain:	n/a
22	chr22:32435499-32435549	GM12892	blood:	n/a
23	chr22:32435499-32435549	LNCaP	prostate:	n/a
24	chr22:32435499-32435549	NB4	blood:	n/a
25	chr22:32435499-32435549	U87	brain:	n/a
26	chr22:32435499-32435549	BE2_C	brain:	n/a
27	chr22:32435499-32435549	HNPCEpiC	eye:	n/a
28	chr22:32435499-32435549	ProgFib	skin:	n/a
29	chr22:32435499-32435549	H1-hESC	embryonic stem cell:	embryo
30	chr22:32435499-32435549	A549	lung:	n/a
31	chr22:32435499-32435549	SK-N-SH_RA	brain:	n/a
32	chr22:32435499-32435549	Hepatocyte	liver:	n/a
33	chr22:32435499-32435549	HRE	kidney:	n/a
34	chr22:32435499-32435549	MCF10A-Er-Src	breast:	n/a
35	chr22:32435499-32435549	NT2-D1	testis:	n/a
36	chr22:32435499-32435549	HRCEpiC	kidney:	n/a
37	chr22:32435499-32435549	RPTEC	kidney:	n/a
38	chr22:32435499-32435549	GM12878	blood:	n/a
39	chr22:32435499-32435549	HMEC	breast:	n/a
40	chr22:32435499-32435549	AG09309	skin:	n/a
41	chr22:32435499-32435549	K562	blood:	n/a
42	chr22:32435499-32435549	GM06990	blood:	n/a
43	chr22:32435499-32435549	HEEpiC	esophagus:	n/a
44	chr22:32435499-32435549	AoSMC	blood vessel:	n/a
45	chr22:32435499-32435549	SAEC	small airway:	n/a
46	chr22:32435499-32435549	AG10803	skin:	n/a
47	chr22:32435499-32435549	PANC-1	pancreas:	n/a
48	chr22:32435499-32435549	SK-N-MC	brain:	n/a
49	chr22:32435499-32435549	AG04449	skin:	fetal
50	chr22:32435499-32435549	Hela-S3	cervix:	n/a

No data

Variant related genes	Relation type
SLC5A1	TF binding region
SLC5A1	CpG island

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11912173	1.00[EUR][1000 genomes]
rs11912190	1.00[EUR][1000 genomes]
rs11912193	1.00[EUR][1000 genomes]
rs11912347	1.00[EUR][1000 genomes]
rs11912545	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11913032	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11913162	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11913545	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11913959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7285895	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8140300	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055450	chr22:32356150-32468832	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv1055925	chr22:32358540-32450200	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv1063876	chr22:32358540-32463271	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv1061546	chr22:32358991-32464350	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv1059240	chr22:32362689-32462511	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription 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	25 gene(s)	inside rSNPs	diseases
6	nsv544678	chr22:32362689-32462511	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv1060529	chr22:32370432-32525699	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
8	nsv1063267	chr22:32379851-32462650	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv544679	chr22:32379851-32462650	Weak transcription Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv1067007	chr22:32400566-32452776	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv1065893	chr22:32400566-32453047	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv834177	chr22:32416679-32594663	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
13	nsv964623	chr22:32432160-32436327	Enhancers Active TSS Weak transcription	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32432200-32437600	Weak transcription	Fetal Intestine Small	intestine

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