Variant report

Variant	rs537165751
Chromosome Location	chr22:29833673-29833674
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:0)
LncRNA
region (count:7)
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	CTCF	chr22:29833658-29833700	MCF-7	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:29833658-29833708	HNPCEpiC	eye:	n/a
2	chr22:29833658-29833708	A549	lung:	n/a
3	chr22:29833658-29833708	NH-A	brain:	n/a
4	chr22:29833658-29833708	GM06990	blood:	n/a
5	chr22:29833658-29833708	Hepatocyte	liver:	n/a
6	chr22:29833658-29833708	U87	brain:	n/a
7	chr22:29833658-29833708	AoSMC	blood vessel:	n/a
8	chr22:29833658-29833708	SK-N-SH_RA	brain:	n/a
9	chr22:29833658-29833708	HepG2	liver:	n/a
10	chr22:29833658-29833708	GM12891	blood:	n/a
11	chr22:29833658-29833708	PFSK-1	brain:	n/a
12	chr22:29833658-29833708	AG04450	lung:	fetal
13	chr22:29833658-29833708	GM12892	blood:	n/a
14	chr22:29833658-29833708	GM19239	blood:	n/a
15	chr22:29833658-29833708	NHBE	bronchial:	n/a
16	chr22:29833658-29833708	BE2_C	brain:	n/a
17	chr22:29833658-29833708	SK-N-MC	brain:	n/a
18	chr22:29833658-29833708	ovcar-3	ovarian:	n/a
19	chr22:29833658-29833708	MCF-7	breast:	n/a
20	chr22:29833658-29833708	GM12878	blood:	n/a
21	chr22:29833658-29833708	HRPEpiC	eye:	n/a
22	chr22:29833658-29833708	AG04449	skin:	fetal
23	chr22:29833658-29833708	LNCaP	prostate:	n/a
24	chr22:29833658-29833708	HUVEC	blood vessel:	n/a
25	chr22:29833658-29833708	HPAEpiC	pulmonary alveolar:	n/a
26	chr22:29833658-29833708	HCT-116	colon:	n/a
27	chr22:29833658-29833708	HEEpiC	esophagus:	n/a
28	chr22:29833658-29833708	H1-hESC	embryonic stem cell:	embryo
29	chr22:29833658-29833708	RPTEC	kidney:	n/a
30	chr22:29833658-29833708	IMR90	lung:	fetal
31	chr22:29833658-29833708	MCF10A-Er-Src	breast:	n/a
32	chr22:29833658-29833708	PrEC	prostate:	n/a
33	chr22:29833658-29833708	NB4	blood:	n/a
34	chr22:29833658-29833708	HRCEpiC	kidney:	n/a
35	chr22:29833658-29833708	HL-60	blood:	n/a
36	chr22:29833658-29833708	HCF	heart:	n/a
37	chr22:29833658-29833708	AG10803	skin:	n/a
38	chr22:29833658-29833708	NHDF-neo	bronchial:	n/a
39	chr22:29833658-29833708	AG09309	skin:	n/a
40	chr22:29833658-29833708	BJ	skin:	n/a
41	chr22:29833658-29833708	HMEC	breast:	n/a
42	chr22:29833658-29833708	PANC-1	pancreas:	n/a
43	chr22:29833658-29833708	NT2-D1	testis:	n/a
44	chr22:29833658-29833708	AG09319	gingival:	n/a
45	chr22:29833658-29833708	Hela-S3	cervix:	n/a
46	chr22:29833658-29833708	ECC-1	luminal epithelium:	n/a
47	chr22:29833658-29833708	Caco-2	colon:	n/a
48	chr22:29833658-29833708	CMK	blood:	n/a
49	chr22:29833658-29833708	K562	blood:	n/a
50	chr22:29833658-29833708	HAEpiC	amniotic membrane:	n/a

No data

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AP1B1-1	chr22:29833006-29838118	ENSG00000225465.4
2	lnc-AP1B1-1	chr22:29832818-29838118	NONHSAT084700
3	lnc-AP1B1-1	chr22:29833004-29838118	NONHSAT084701
4	lnc-AP1B1-1	chr22:29833007-29838118	NONHSAT084702
5	lnc-AP1B1-1	chr22:29833007-29838118	NONHSAT084703
6	lnc-AP1B1-1	chr22:29833016-29838118	NONHSAT084704
7	lnc-AP1B1-1	chr22:29832818-29838118	ENSG00000225465.6

No data

Variant related genes	Relation type
RFPL1	TF binding region
RFPL1	CpG island

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1058156	chr22:29772043-30024013	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv544675	chr22:29772043-30024013	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1059994	chr22:29797373-29834766	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1060197	chr22:29817507-29842511	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1062373	chr22:29826745-30092448	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv544676	chr22:29826745-30092448	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
10	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	nsv964618	chr22:29833351-29836403	Weak transcription Enhancers	TF binding region CpG island lncRNA	1 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	chr22:29831400-29849800	Weak transcription	Fetal Intestine Small	intestine

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