Variant report

Variant	rs496530
Chromosome Location	chr6:74079024-74079025
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:1)
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	chr6:74078997-74079047	CMK	blood:	n/a
2	chr6:74078997-74079047	BJ	skin:	n/a
3	chr6:74078997-74079047	GM12891	blood:	n/a
4	chr6:74078997-74079047	NHDF-neo	bronchial:	n/a
5	chr6:74078997-74079047	H1-hESC	embryonic stem cell:	embryo
6	chr6:74079022-74079072	U87	brain:	n/a
7	chr6:74079022-74079072	MCF-7	breast:	n/a
8	chr6:74078997-74079047	HL-60	blood:	n/a
9	chr6:74078997-74079047	HRPEpiC	eye:	n/a
10	chr6:74079022-74079072	A549	lung:	n/a
11	chr6:74078997-74079047	AG04450	lung:	fetal
12	chr6:74078997-74079047	SAEC	small airway:	n/a
13	chr6:74078997-74079047	GM06990	blood:	n/a
14	chr6:74079022-74079072	NB4	blood:	n/a
15	chr6:74078997-74079047	HIPEpiC	eye:	n/a
16	chr6:74079022-74079072	T-47D	breast:	n/a
17	chr6:74079022-74079072	Hela-S3	cervix:	n/a
18	chr6:74079022-74079072	NHBE	bronchial:	n/a
19	chr6:74079022-74079072	CMK	blood:	n/a
20	chr6:74079022-74079072	BE2_C	brain:	n/a
21	chr6:74079022-74079072	SK-N-MC	brain:	n/a
22	chr6:74079022-74079072	PrEC	prostate:	n/a
23	chr6:74078997-74079047	ECC-1	luminal epithelium:	n/a
24	chr6:74078997-74079047	MCF-7	breast:	n/a
25	chr6:74078997-74079047	Hela-S3	cervix:	n/a
26	chr6:74078997-74079047	HUVEC	blood vessel:	n/a
27	chr6:74079022-74079072	Jurkat	blood:	n/a
28	chr6:74078997-74079047	PrEC	prostate:	n/a
29	chr6:74078997-74079047	NH-A	brain:	n/a
30	chr6:74078997-74079047	T-47D	breast:	n/a
31	chr6:74079022-74079072	NT2-D1	testis:	n/a
32	chr6:74079022-74079072	HUVEC	blood vessel:	n/a
33	chr6:74079022-74079072	H1-hESC	embryonic stem cell:	embryo
34	chr6:74078997-74079047	K562	blood:	n/a
35	chr6:74079022-74079072	GM12878	blood:	n/a
36	chr6:74079022-74079072	Caco-2	colon:	n/a
37	chr6:74078997-74079047	HAEpiC	amniotic membrane:	n/a
38	chr6:74078997-74079047	ProgFib	skin:	n/a
39	chr6:74078997-74079047	LNCaP	prostate:	n/a
40	chr6:74078997-74079047	HepG2	liver:	n/a
41	chr6:74078997-74079047	GM12878	blood:	n/a
42	chr6:74078997-74079047	HEEpiC	esophagus:	n/a
43	chr6:74079022-74079072	AG09319	gingival:	n/a
44	chr6:74078997-74079047	GM12892	blood:	n/a
45	chr6:74079022-74079072	GM06990	blood:	n/a
46	chr6:74078997-74079047	HCT-116	colon:	n/a
47	chr6:74079022-74079072	PANC-1	pancreas:	n/a
48	chr6:74079022-74079072	HEEpiC	esophagus:	n/a
49	chr6:74079022-74079072	ProgFib	skin:	n/a
50	chr6:74079022-74079072	RPTEC	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	6:74000304-74012200..6:74078047-74099067	H1-hESC	embryonic stem cell:	embryo

No data

Variant related genes	Relation type
OOEP-AS1	CpG island
ENSG00000234882	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs311681	0.89[CEU][hapmap];0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs311682	0.89[CEU][hapmap];0.93[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs311683	0.88[CEU][hapmap];0.93[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs311684	0.88[CEU][hapmap];0.87[EUR][1000 genomes]
rs311685	0.88[CEU][hapmap];0.93[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs311686	0.88[CEU][hapmap];0.93[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs473675	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs474418	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs504218	0.89[CEU][hapmap];0.98[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs508770	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs515650	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs516395	0.97[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs553123	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs558198	0.80[CEU][hapmap];0.83[EUR][1000 genomes]
rs561930	1.00[CEU][hapmap];0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6928023	0.94[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs6937939	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs780288	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv830693	chr6:74049342-74216080	Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs496530	MTO1	Cis_1M	lymphoblastoid	RTeQTL
rs496530	EEF1A1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74077600-74084200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr6:74078800-74079400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:74078800-74081600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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