Variant report

Variant	rs1422202
Chromosome Location	chr5:106530219-106530220
allele	A/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	chr5:106530218-106530268	BE2_C	brain:	n/a
2	chr5:106530218-106530268	CMK	blood:	n/a
3	chr5:106530218-106530268	ECC-1	luminal epithelium:	n/a
4	chr5:106530218-106530268	NHBE	bronchial:	n/a
5	chr5:106530218-106530268	MCF10A-Er-Src	breast:	n/a
6	chr5:106530218-106530268	GM12892	blood:	n/a
7	chr5:106530218-106530268	ProgFib	skin:	n/a
8	chr5:106530218-106530268	RPTEC	kidney:	n/a
9	chr5:106530218-106530268	SK-N-MC	brain:	n/a
10	chr5:106530218-106530268	A549	lung:	n/a
11	chr5:106530218-106530268	HAEpiC	amniotic membrane:	n/a
12	chr5:106530218-106530268	PFSK-1	brain:	n/a
13	chr5:106530218-106530268	HEEpiC	esophagus:	n/a
14	chr5:106530218-106530268	NHDF-neo	bronchial:	n/a
15	chr5:106530218-106530268	T-47D	breast:	n/a
16	chr5:106530218-106530268	HRCEpiC	kidney:	n/a
17	chr5:106530218-106530268	HCT-116	colon:	n/a
18	chr5:106530218-106530268	HL-60	blood:	n/a
19	chr5:106530218-106530268	HCF	heart:	n/a
20	chr5:106530218-106530268	SAEC	small airway:	n/a
21	chr5:106530218-106530268	ovcar-3	ovarian:	n/a
22	chr5:106530218-106530268	GM06990	blood:	n/a
23	chr5:106530218-106530268	NH-A	brain:	n/a
24	chr5:106530218-106530268	Jurkat	blood:	n/a
25	chr5:106530218-106530268	HIPEpiC	eye:	n/a
26	chr5:106530218-106530268	K562	blood:	n/a
27	chr5:106530218-106530268	SK-N-SH_RA	brain:	n/a
28	chr5:106530218-106530268	PANC-1	pancreas:	n/a
29	chr5:106530218-106530268	BJ	skin:	n/a
30	chr5:106530218-106530268	H1-hESC	embryonic stem cell:	embryo
31	chr5:106530218-106530268	HCPEpiC	choroid plexus:	n/a
32	chr5:106530218-106530268	AG09319	gingival:	n/a
33	chr5:106530218-106530268	HUVEC	blood vessel:	n/a
34	chr5:106530218-106530268	NB4	blood:	n/a
35	chr5:106530218-106530268	Hepatocyte	liver:	n/a
36	chr5:106530218-106530268	NT2-D1	testis:	n/a
37	chr5:106530218-106530268	HepG2	liver:	n/a
38	chr5:106530218-106530268	PrEC	prostate:	n/a
39	chr5:106530218-106530268	AG09309	skin:	n/a
40	chr5:106530218-106530268	IMR90	lung:	fetal
41	chr5:106530218-106530268	HRPEpiC	eye:	n/a
42	chr5:106530218-106530268	AG04449	skin:	fetal
43	chr5:106530218-106530268	HNPCEpiC	eye:	n/a
44	chr5:106530218-106530268	Hela-S3	cervix:	n/a
45	chr5:106530218-106530268	LNCaP	prostate:	n/a
46	chr5:106530218-106530268	HEK293	kidney:	embryo
47	chr5:106530218-106530268	SK-N-SH	brain:	n/a
48	chr5:106530218-106530268	HCM	heart:	n/a
49	chr5:106530218-106530268	GM12878	blood:	n/a
50	chr5:106530218-106530268	Caco-2	colon:	n/a

No data

Variant related genes	Relation type
PSMC1P5	CpG island

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12188989	0.80[AMR][1000 genomes]
rs17159492	0.94[EUR][1000 genomes]
rs17159517	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4512123	0.94[EUR][1000 genomes]
rs56205882	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72780137	0.87[EUR][1000 genomes]
rs72780138	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72780142	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72780143	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72780145	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72780149	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72780150	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72780159	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72780160	0.80[AMR][1000 genomes]
rs72780162	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72780184	0.96[EUR][1000 genomes]
rs72782151	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030118	chr5:106006097-106847949	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv823170	chr5:106326293-106673695	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv2752056	chr5:106422649-106563101	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1034276	chr5:106461538-106944163	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv537851	chr5:106461538-106944163	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	esv2758011	chr5:106491726-106551811	Enhancers Weak transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv2759368	chr5:106491726-106551811	Enhancers Weak transcription Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv882680	chr5:106493350-106573961	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv882681	chr5:106508913-106573961	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv968230	chr5:106530132-106531404	Weak transcription Enhancers	TF binding region CpG island	1 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	chr5:106528800-106531200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:106530200-106530400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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