Variant report

Variant	rs9609517
Chromosome Location	chr22:32767142-32767143
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:122)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:32767128-32767178	HCT-116	colon:	n/a
2	chr22:32767094-32767144	SK-N-MC	brain:	n/a
3	chr22:32767128-32767178	GM12891	blood:	n/a
4	chr22:32767094-32767144	Hela-S3	cervix:	n/a
5	chr22:32767128-32767178	HepG2	liver:	n/a
6	chr22:32767094-32767144	H1-hESC	embryonic stem cell:	embryo
7	chr22:32767128-32767178	HRPEpiC	eye:	n/a
8	chr22:32767128-32767178	Hela-S3	cervix:	n/a
9	chr22:32767094-32767144	GM06990	blood:	n/a
10	chr22:32767128-32767178	A549	lung:	n/a
11	chr22:32767094-32767144	NHDF-neo	bronchial:	n/a
12	chr22:32767128-32767178	AoSMC	blood vessel:	n/a
13	chr22:32767094-32767144	SK-N-SH	brain:	n/a
14	chr22:32767128-32767178	ovcar-3	ovarian:	n/a
15	chr22:32767094-32767144	HL-60	blood:	n/a
16	chr22:32767128-32767178	GM06990	blood:	n/a
17	chr22:32767128-32767178	HIPEpiC	eye:	n/a
18	chr22:32767094-32767144	ProgFib	skin:	n/a
19	chr22:32767094-32767144	PrEC	prostate:	n/a
20	chr22:32767094-32767144	HCPEpiC	choroid plexus:	n/a
21	chr22:32767094-32767144	HMEC	breast:	n/a
22	chr22:32767128-32767178	PFSK-1	brain:	n/a
23	chr22:32767128-32767178	BJ	skin:	n/a
24	chr22:32767094-32767144	CMK	blood:	n/a
25	chr22:32767094-32767144	ovcar-3	ovarian:	n/a
26	chr22:32767094-32767144	HCM	heart:	n/a
27	chr22:32767094-32767144	IMR90	lung:	fetal
28	chr22:32767128-32767178	SK-N-MC	brain:	n/a
29	chr22:32767128-32767178	AG04449	skin:	fetal
30	chr22:32767094-32767144	MCF-7	breast:	n/a
31	chr22:32767128-32767178	HPAEpiC	pulmonary alveolar:	n/a
32	chr22:32767128-32767178	NHBE	bronchial:	n/a
33	chr22:32767094-32767144	HepG2	liver:	n/a
34	chr22:32767128-32767178	NT2-D1	testis:	n/a
35	chr22:32767094-32767144	RPTEC	kidney:	n/a
36	chr22:32767128-32767178	HEK293	kidney:	embryo
37	chr22:32767094-32767144	MCF10A-Er-Src	breast:	n/a
38	chr22:32767128-32767178	ECC-1	luminal epithelium:	n/a
39	chr22:32767094-32767144	AG09319	gingival:	n/a
40	chr22:32767094-32767144	GM12891	blood:	n/a
41	chr22:32767094-32767144	HRCEpiC	kidney:	n/a
42	chr22:32767094-32767144	SAEC	small airway:	n/a
43	chr22:32767128-32767178	Caco-2	colon:	n/a
44	chr22:32767128-32767178	HMEC	breast:	n/a
45	chr22:32767128-32767178	IMR90	lung:	fetal
46	chr22:32767094-32767144	AG09309	skin:	n/a
47	chr22:32767094-32767144	Jurkat	blood:	n/a
48	chr22:32767094-32767144	SKMC	muscle:	n/a
49	chr22:32767094-32767144	NB4	blood:	n/a
50	chr22:32767128-32767178	HRCEpiC	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:31829733-31836635..22:32764253-32784733	K562	blood:
2	22:31936958-31958600..22:32764253-32784733	K562	blood:
3	22:32529813-32538538..22:32764253-32784733	H1-hESC	embryonic stem cell:	embryo
4	22:32513817-32522138..22:32764253-32784733	H1-hESC	embryonic stem cell:	embryo
5	22:32360288-32405313..22:32764253-32784733	K562	blood:

No data

Variant related genes	Relation type
RFPL3S	CpG island
ENSG00000240647	Chromatin interaction
ENSG00000234479	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000232707	Chromatin interaction
ENSG00000230866	Chromatin interaction
ENSG00000214093	Chromatin interaction
ENSG00000239674	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs9609547	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv1064737	chr22:32603912-32829725	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
6	esv1817721	chr22:32758417-32770340	Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv519170	chr22:32765949-32771017	Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32755800-32781600	Weak transcription	Ovary	ovary
2	chr22:32762800-32788200	Weak transcription	Psoas Muscle	Psoas
3	chr22:32767000-32767600	Active TSS	Placenta	Placenta

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