Variant report

Variant	rs3986033
Chromosome Location	chr22:32589417-32589418
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:32589380-32589430	HPAEpiC	pulmonary alveolar:	n/a
2	chr22:32589380-32589430	HepG2	liver:	n/a
3	chr22:32589380-32589430	CMK	blood:	n/a
4	chr22:32589380-32589430	U87	brain:	n/a
5	chr22:32589380-32589430	Hela-S3	cervix:	n/a
6	chr22:32589380-32589430	NH-A	brain:	n/a
7	chr22:32589380-32589430	HAEpiC	amniotic membrane:	n/a
8	chr22:32589380-32589430	AoSMC	blood vessel:	n/a
9	chr22:32589380-32589430	SKMC	muscle:	n/a
10	chr22:32589380-32589430	GM12878	blood:	n/a
11	chr22:32589380-32589430	HCF	heart:	n/a
12	chr22:32589380-32589430	BJ	skin:	n/a
13	chr22:32589380-32589430	SK-N-MC	brain:	n/a
14	chr22:32589380-32589430	MCF10A-Er-Src	breast:	n/a
15	chr22:32589380-32589430	HCPEpiC	choroid plexus:	n/a
16	chr22:32589380-32589430	AG10803	skin:	n/a
17	chr22:32589380-32589430	HRPEpiC	eye:	n/a
18	chr22:32589380-32589430	HCT-116	colon:	n/a
19	chr22:32589380-32589430	ECC-1	luminal epithelium:	n/a
20	chr22:32589380-32589430	Caco-2	colon:	n/a
21	chr22:32589380-32589430	HRCEpiC	kidney:	n/a
22	chr22:32589380-32589430	HNPCEpiC	eye:	n/a
23	chr22:32589380-32589430	Jurkat	blood:	n/a
24	chr22:32589380-32589430	K562	blood:	n/a
25	chr22:32589380-32589430	BE2_C	brain:	n/a
26	chr22:32589380-32589430	NT2-D1	testis:	n/a
27	chr22:32589380-32589430	SK-N-SH_RA	brain:	n/a
28	chr22:32589380-32589430	AG04450	lung:	fetal
29	chr22:32589380-32589430	SAEC	small airway:	n/a
30	chr22:32589380-32589430	Hepatocyte	liver:	n/a
31	chr22:32589380-32589430	HUVEC	blood vessel:	n/a
32	chr22:32589380-32589430	SK-N-SH	brain:	n/a
33	chr22:32589380-32589430	NHDF-neo	bronchial:	n/a
34	chr22:32589380-32589430	AG09309	skin:	n/a
35	chr22:32589380-32589430	IMR90	lung:	fetal
36	chr22:32589380-32589430	HEEpiC	esophagus:	n/a
37	chr22:32589380-32589430	T-47D	breast:	n/a
38	chr22:32589380-32589430	AG04449	skin:	fetal
39	chr22:32589380-32589430	GM12892	blood:	n/a
40	chr22:32589380-32589430	HMEC	breast:	n/a
41	chr22:32589380-32589430	GM19239	blood:	n/a
42	chr22:32589380-32589430	A549	lung:	n/a
43	chr22:32589380-32589430	AG09319	gingival:	n/a
44	chr22:32589380-32589430	NHBE	bronchial:	n/a
45	chr22:32589380-32589430	HRE	kidney:	n/a
46	chr22:32589380-32589430	MCF-7	breast:	n/a
47	chr22:32589380-32589430	HCM	heart:	n/a
48	chr22:32589380-32589430	LNCaP	prostate:	n/a
49	chr22:32589380-32589430	ovcar-3	ovarian:	n/a
50	chr22:32589380-32589430	HIPEpiC	eye:	n/a

No data

Variant related genes	Relation type
RFPL2	CpG island

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs62239005	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62239006	0.89[AMR][1000 genomes]

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	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
2	nsv948789	chr22:32462505-32764760	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv1065175	chr22:32467617-32761093	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	nsv544680	chr22:32467617-32761093	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	esv2830423	chr22:32477718-32767825	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
6	esv2422247	chr22:32486448-32788258	Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
7	nsv834178	chr22:32490449-32677521	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
8	nsv459874	chr22:32574274-32866934	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
9	nsv588895	chr22:32574274-32866934	Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
10	nsv966105	chr22:32586529-32590423	Inactive region	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv3597	chr22:32588424-32632724	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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