Variant report

Variant	rs62116993
Chromosome Location	chr19:44306576-44306577
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr19:44306359-44306708	K562	blood:	n/a	chr19:44306548-44306561 chr19:44306552-44306561 chr19:44306545-44306558 chr19:44306541-44306561 chr19:44306545-44306558
2	REST	chr19:44306344-44306757	U87	brain:	n/a	chr19:44306548-44306561 chr19:44306552-44306561 chr19:44306545-44306558 chr19:44306541-44306561 chr19:44306545-44306558
3	REST	chr19:44306422-44306655	A549	lung:	n/a	chr19:44306548-44306561 chr19:44306552-44306561 chr19:44306545-44306558 chr19:44306541-44306561 chr19:44306545-44306558
4	REST	chr19:44306360-44306763	MCF-7	breast:	n/a	chr19:44306548-44306561 chr19:44306552-44306561 chr19:44306545-44306558 chr19:44306541-44306561 chr19:44306545-44306558
5	REST	chr19:44306471-44306589	PFSK-1	brain:	n/a	chr19:44306548-44306561 chr19:44306552-44306561 chr19:44306545-44306558 chr19:44306541-44306561 chr19:44306545-44306558
6	REST	chr19:44306357-44306652	H1-hESC	embryonic stem cell:	n/a	chr19:44306548-44306561 chr19:44306552-44306561 chr19:44306545-44306558 chr19:44306541-44306561 chr19:44306545-44306558
7	REST	chr19:44306456-44306596	GM12878	blood:	n/a	chr19:44306548-44306561 chr19:44306552-44306561 chr19:44306545-44306558 chr19:44306541-44306561 chr19:44306545-44306558
8	REST	chr19:44306475-44306631	K562	blood:	n/a	chr19:44306548-44306561 chr19:44306552-44306561 chr19:44306545-44306558 chr19:44306541-44306561 chr19:44306545-44306558
9	REST	chr19:44306248-44306766	PFSK-1	brain:	n/a	chr19:44306548-44306561 chr19:44306552-44306561 chr19:44306545-44306558 chr19:44306541-44306561 chr19:44306545-44306558
10	REST	chr19:44306344-44306755	U87	brain:	n/a	chr19:44306548-44306561 chr19:44306552-44306561 chr19:44306545-44306558 chr19:44306541-44306561 chr19:44306545-44306558
11	REST	chr19:44306470-44306587	HepG2	liver:	n/a	chr19:44306548-44306561 chr19:44306552-44306561 chr19:44306545-44306558 chr19:44306541-44306561 chr19:44306545-44306558
12	REST	chr19:44306398-44306715	PANC-1	pancreas:	n/a	chr19:44306548-44306561 chr19:44306552-44306561 chr19:44306545-44306558 chr19:44306541-44306561 chr19:44306545-44306558
13	REST	chr19:44306383-44306667	HL-60	blood:	n/a	chr19:44306548-44306561 chr19:44306552-44306561 chr19:44306545-44306558 chr19:44306541-44306561 chr19:44306545-44306558
14	REST	chr19:44306385-44306725	H1-hESC	embryonic stem cell:	n/a	chr19:44306548-44306561 chr19:44306552-44306561 chr19:44306545-44306558 chr19:44306541-44306561 chr19:44306545-44306558
15	REST	chr19:44306410-44306615	Hela-S3	cervix:	n/a	chr19:44306548-44306561 chr19:44306552-44306561 chr19:44306545-44306558 chr19:44306541-44306561 chr19:44306545-44306558
16	REST	chr19:44306441-44306635	PFSK-1	brain:	n/a	chr19:44306548-44306561 chr19:44306552-44306561 chr19:44306545-44306558 chr19:44306541-44306561 chr19:44306545-44306558
17	REST	chr19:44306392-44306702	MCF-7	breast:	n/a	chr19:44306548-44306561 chr19:44306552-44306561 chr19:44306545-44306558 chr19:44306541-44306561 chr19:44306545-44306558
18	REST	chr19:44306316-44306785	ECC-1	luminal epithelium:	n/a	chr19:44306548-44306561 chr19:44306552-44306561 chr19:44306545-44306558 chr19:44306541-44306561 chr19:44306545-44306558
19	REST	chr19:44306358-44306682	SK-N-SH	brain:	n/a	chr19:44306548-44306561 chr19:44306552-44306561 chr19:44306545-44306558 chr19:44306541-44306561 chr19:44306545-44306558
20	REST	chr19:44306442-44306714	PANC-1	pancreas:	n/a	chr19:44306548-44306561 chr19:44306552-44306561 chr19:44306545-44306558 chr19:44306541-44306561 chr19:44306545-44306558
21	REST	chr19:44306394-44306852	ECC-1	luminal epithelium:	n/a	chr19:44306548-44306561 chr19:44306552-44306561 chr19:44306545-44306558 chr19:44306541-44306561 chr19:44306545-44306558
22	REST	chr19:44306319-44306768	PFSK-1	brain:	n/a	chr19:44306548-44306561 chr19:44306552-44306561 chr19:44306545-44306558 chr19:44306541-44306561 chr19:44306545-44306558
23	REST	chr19:44306447-44306589	GM12878	blood:	n/a	chr19:44306548-44306561 chr19:44306552-44306561 chr19:44306545-44306558 chr19:44306541-44306561 chr19:44306545-44306558
24	REST	chr19:44306375-44306681	GM12878	blood:	n/a	chr19:44306548-44306561 chr19:44306552-44306561 chr19:44306545-44306558 chr19:44306541-44306561 chr19:44306545-44306558

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:44306565-44306615	HIPEpiC	eye:	n/a
2	chr19:44306565-44306615	NH-A	brain:	n/a
3	chr19:44306565-44306615	NHBE	bronchial:	n/a
4	chr19:44306565-44306615	HCF	heart:	n/a
5	chr19:44306565-44306615	HepG2	liver:	n/a
6	chr19:44306565-44306615	AG09309	skin:	n/a
7	chr19:44306565-44306615	HRPEpiC	eye:	n/a
8	chr19:44306565-44306615	NHDF-neo	bronchial:	n/a
9	chr19:44306565-44306615	GM19239	blood:	n/a
10	chr19:44306565-44306615	U87	brain:	n/a
11	chr19:44306565-44306615	AG10803	skin:	n/a
12	chr19:44306565-44306615	ProgFib	skin:	n/a
13	chr19:44306565-44306615	HCPEpiC	choroid plexus:	n/a
14	chr19:44306565-44306615	GM12892	blood:	n/a
15	chr19:44306565-44306615	PrEC	prostate:	n/a
16	chr19:44306565-44306615	SK-N-SH_RA	brain:	n/a
17	chr19:44306565-44306615	IMR90	lung:	fetal
18	chr19:44306565-44306615	A549	lung:	n/a
19	chr19:44306565-44306615	HCT-116	colon:	n/a
20	chr19:44306565-44306615	NT2-D1	testis:	n/a
21	chr19:44306565-44306615	NB4	blood:	n/a
22	chr19:44306565-44306615	BJ	skin:	n/a
23	chr19:44306565-44306615	GM12878	blood:	n/a
24	chr19:44306565-44306615	SK-N-MC	brain:	n/a
25	chr19:44306565-44306615	AG09319	gingival:	n/a
26	chr19:44306565-44306615	MCF-7	breast:	n/a
27	chr19:44306565-44306615	SK-N-SH	brain:	n/a
28	chr19:44306565-44306615	AG04450	lung:	fetal
29	chr19:44306565-44306615	ECC-1	luminal epithelium:	n/a
30	chr19:44306565-44306615	T-47D	breast:	n/a
31	chr19:44306565-44306615	ovcar-3	ovarian:	n/a
32	chr19:44306565-44306615	HNPCEpiC	eye:	n/a
33	chr19:44306565-44306615	HEEpiC	esophagus:	n/a
34	chr19:44306565-44306615	PFSK-1	brain:	n/a
35	chr19:44306565-44306615	GM12891	blood:	n/a
36	chr19:44306565-44306615	RPTEC	kidney:	n/a
37	chr19:44306565-44306615	HL-60	blood:	n/a
38	chr19:44306565-44306615	HRE	kidney:	n/a
39	chr19:44306565-44306615	Hela-S3	cervix:	n/a
40	chr19:44306565-44306615	HRCEpiC	kidney:	n/a
41	chr19:44306565-44306615	SKMC	muscle:	n/a
42	chr19:44306565-44306615	HCM	heart:	n/a
43	chr19:44306565-44306615	HAEpiC	amniotic membrane:	n/a
44	chr19:44306565-44306615	BE2_C	brain:	n/a
45	chr19:44306565-44306615	PANC-1	pancreas:	n/a
46	chr19:44306565-44306615	LNCaP	prostate:	n/a
47	chr19:44306565-44306615	H1-hESC	embryonic stem cell:	embryo
48	chr19:44306565-44306615	Hepatocyte	liver:	n/a
49	chr19:44306565-44306615	Jurkat	blood:	n/a
50	chr19:44306565-44306615	HEK293	kidney:	embryo

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44285151..44287673-chr19:44304698..44307522,2	K562	blood:
2	chr19:44301885..44304341-chr19:44304382..44306763,2	K562	blood:

Variant related genes	Relation type
LYPD5	TF binding region
LYPD5	CpG island
ENSG00000159871	Chromatin interaction
ENSG00000104783	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11666403	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11879355	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62116989	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62116994	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62116995	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62116996	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62116997	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62116998	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8112656	0.92[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats 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	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44304200-44308600	Weak transcription	K562	blood
2	chr19:44304600-44309000	Weak transcription	Spleen	Spleen
3	chr19:44304600-44310200	Weak transcription	HMEC	breast
4	chr19:44304600-44310200	Weak transcription	NHEK	skin

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