Variant report

Variant	rs566430254
Chromosome Location	chr22:32753975-32753976
allele	C/T
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:7)
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	chr22:32753939-32753989	NH-A	brain:	n/a
2	chr22:32753939-32753989	A549	lung:	n/a
3	chr22:32753939-32753989	HIPEpiC	eye:	n/a
4	chr22:32753939-32753989	GM12878	blood:	n/a
5	chr22:32753939-32753989	GM12891	blood:	n/a
6	chr22:32753939-32753989	GM19239	blood:	n/a
7	chr22:32753939-32753989	HUVEC	blood vessel:	n/a
8	chr22:32753939-32753989	U87	brain:	n/a
9	chr22:32753939-32753989	RPTEC	kidney:	n/a
10	chr22:32753939-32753989	Hela-S3	cervix:	n/a
11	chr22:32753939-32753989	MCF10A-Er-Src	breast:	n/a
12	chr22:32753939-32753989	HMEC	breast:	n/a
13	chr22:32753939-32753989	SK-N-MC	brain:	n/a
14	chr22:32753939-32753989	HRE	kidney:	n/a
15	chr22:32753939-32753989	Jurkat	blood:	n/a
16	chr22:32753939-32753989	Caco-2	colon:	n/a
17	chr22:32753939-32753989	AG04449	skin:	fetal
18	chr22:32753939-32753989	SK-N-SH	brain:	n/a
19	chr22:32753939-32753989	NT2-D1	testis:	n/a
20	chr22:32753939-32753989	GM12892	blood:	n/a
21	chr22:32753939-32753989	AG04450	lung:	fetal
22	chr22:32753939-32753989	ProgFib	skin:	n/a
23	chr22:32753939-32753989	HRCEpiC	kidney:	n/a
24	chr22:32753939-32753989	AG10803	skin:	n/a
25	chr22:32753939-32753989	MCF-7	breast:	n/a
26	chr22:32753939-32753989	HEK293	kidney:	embryo
27	chr22:32753939-32753989	HCPEpiC	choroid plexus:	n/a
28	chr22:32753939-32753989	IMR90	lung:	fetal
29	chr22:32753939-32753989	LNCaP	prostate:	n/a
30	chr22:32753939-32753989	HEEpiC	esophagus:	n/a
31	chr22:32753939-32753989	NHBE	bronchial:	n/a
32	chr22:32753939-32753989	SK-N-SH_RA	brain:	n/a
33	chr22:32753939-32753989	PrEC	prostate:	n/a
34	chr22:32753939-32753989	AG09309	skin:	n/a
35	chr22:32753939-32753989	H1-hESC	embryonic stem cell:	embryo
36	chr22:32753939-32753989	AG09319	gingival:	n/a
37	chr22:32753939-32753989	HL-60	blood:	n/a
38	chr22:32753939-32753989	K562	blood:	n/a
39	chr22:32753939-32753989	GM06990	blood:	n/a
40	chr22:32753939-32753989	HCF	heart:	n/a
41	chr22:32753939-32753989	ECC-1	luminal epithelium:	n/a
42	chr22:32753939-32753989	HCM	heart:	n/a
43	chr22:32753939-32753989	Hepatocyte	liver:	n/a
44	chr22:32753939-32753989	HNPCEpiC	eye:	n/a
45	chr22:32753939-32753989	HepG2	liver:	n/a
46	chr22:32753939-32753989	SAEC	small airway:	n/a
47	chr22:32753939-32753989	HPAEpiC	pulmonary alveolar:	n/a
48	chr22:32753939-32753989	BE2_C	brain:	n/a
49	chr22:32753939-32753989	ovcar-3	ovarian:	n/a
50	chr22:32753939-32753989	BJ	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32529813-32538538..22:32750950-32761732	K562	blood:
2	22:32360288-32405313..22:32750950-32761732	K562	blood:
3	22:32665993-32670527..22:32750950-32761732	K562	blood:
4	22:31936958-31958600..22:32750950-32761732	Hela-S3	cervix:
5	22:32513817-32522138..22:32750950-32761732	H1-hESC	embryonic stem cell:	embryo
6	22:32750950-32761732..22:33253287-33262063	Hela-S3	cervix:
7	22:32284948-32287956..22:32750950-32761732	K562	blood:

No data

Variant related genes	Relation type
RFPL3	CpG island
IGLCOR22-2	CpG island
ENSG00000183531	Chromatin interaction
ENSG00000224050	Chromatin interaction
ENSG00000234479	Chromatin interaction
ENSG00000230866	Chromatin interaction
ENSG00000239674	Chromatin interaction
ENSG00000232707	Chromatin interaction
ENSG00000214093	Chromatin interaction
ENSG00000240647	Chromatin interaction
ENSG00000227813	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv979671	chr22:32753870-32755199	Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32750800-32755600	Weak transcription	Ovary	ovary
2	chr22:32751000-32754200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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