Variant report

Variant	rs28391349
Chromosome Location	chr22:32767195-32767196
allele	A/C
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:5)
LncRNA
region (count:1)
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	chr22:32767162-32767212	ECC-1	luminal epithelium:	n/a
2	chr22:32767162-32767212	BE2_C	brain:	n/a
3	chr22:32767162-32767212	HEEpiC	esophagus:	n/a
4	chr22:32767162-32767212	GM12892	blood:	n/a
5	chr22:32767162-32767212	CMK	blood:	n/a
6	chr22:32767162-32767212	NH-A	brain:	n/a
7	chr22:32767162-32767212	HEK293	kidney:	embryo
8	chr22:32767162-32767212	SKMC	muscle:	n/a
9	chr22:32767162-32767212	AG09319	gingival:	n/a
10	chr22:32767162-32767212	Caco-2	colon:	n/a
11	chr22:32767162-32767212	GM12878	blood:	n/a
12	chr22:32767162-32767212	BJ	skin:	n/a
13	chr22:32767162-32767212	HPAEpiC	pulmonary alveolar:	n/a
14	chr22:32767162-32767212	SK-N-MC	brain:	n/a
15	chr22:32767162-32767212	Hepatocyte	liver:	n/a
16	chr22:32767162-32767212	IMR90	lung:	fetal
17	chr22:32767162-32767212	SK-N-SH_RA	brain:	n/a
18	chr22:32767162-32767212	GM06990	blood:	n/a
19	chr22:32767162-32767212	HL-60	blood:	n/a
20	chr22:32767162-32767212	AG04450	lung:	fetal
21	chr22:32767162-32767212	ProgFib	skin:	n/a
22	chr22:32767162-32767212	HRPEpiC	eye:	n/a
23	chr22:32767162-32767212	LNCaP	prostate:	n/a
24	chr22:32767162-32767212	U87	brain:	n/a
25	chr22:32767162-32767212	HIPEpiC	eye:	n/a
26	chr22:32767162-32767212	HRE	kidney:	n/a
27	chr22:32767162-32767212	HCT-116	colon:	n/a
28	chr22:32767162-32767212	AG10803	skin:	n/a
29	chr22:32767162-32767212	Jurkat	blood:	n/a
30	chr22:32767162-32767212	SAEC	small airway:	n/a
31	chr22:32767162-32767212	RPTEC	kidney:	n/a
32	chr22:32767162-32767212	GM19239	blood:	n/a
33	chr22:32767162-32767212	NHBE	bronchial:	n/a
34	chr22:32767162-32767212	PFSK-1	brain:	n/a
35	chr22:32767162-32767212	HepG2	liver:	n/a
36	chr22:32767162-32767212	MCF10A-Er-Src	breast:	n/a
37	chr22:32767162-32767212	ovcar-3	ovarian:	n/a
38	chr22:32767162-32767212	NT2-D1	testis:	n/a
39	chr22:32767162-32767212	HRCEpiC	kidney:	n/a
40	chr22:32767162-32767212	Hela-S3	cervix:	n/a
41	chr22:32767162-32767212	H1-hESC	embryonic stem cell:	embryo
42	chr22:32767162-32767212	SK-N-SH	brain:	n/a
43	chr22:32767162-32767212	HUVEC	blood vessel:	n/a
44	chr22:32767162-32767212	HNPCEpiC	eye:	n/a
45	chr22:32767162-32767212	PrEC	prostate:	n/a
46	chr22:32767162-32767212	AG04449	skin:	fetal
47	chr22:32767162-32767212	T-47D	breast:	n/a
48	chr22:32767162-32767212	AoSMC	blood vessel:	n/a
49	chr22:32767162-32767212	A549	lung:	n/a
50	chr22:32767162-32767212	NB4	blood:	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:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C22orf28-1	chr22:32767185-32767251	NR_104232

No data

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

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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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