Variant report

Variant	rs73018495
Chromosome Location	chr1:153389647-153389648
allele	G/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:4)
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	chr1:153389629-153389679	RPTEC	kidney:	n/a
2	chr1:153389629-153389679	A549	lung:	n/a
3	chr1:153389629-153389679	GM12891	blood:	n/a
4	chr1:153389629-153389679	IMR90	lung:	fetal
5	chr1:153389629-153389679	NB4	blood:	n/a
6	chr1:153389629-153389679	AG04450	lung:	fetal
7	chr1:153389629-153389679	ECC-1	luminal epithelium:	n/a
8	chr1:153389629-153389679	PrEC	prostate:	n/a
9	chr1:153389629-153389679	HCT-116	colon:	n/a
10	chr1:153389629-153389679	Caco-2	colon:	n/a
11	chr1:153389629-153389679	AG10803	skin:	n/a
12	chr1:153389629-153389679	ProgFib	skin:	n/a
13	chr1:153389629-153389679	SK-N-SH	brain:	n/a
14	chr1:153389629-153389679	H1-hESC	embryonic stem cell:	embryo
15	chr1:153389629-153389679	HRCEpiC	kidney:	n/a
16	chr1:153389629-153389679	LNCaP	prostate:	n/a
17	chr1:153389629-153389679	HepG2	liver:	n/a
18	chr1:153389629-153389679	U87	brain:	n/a
19	chr1:153389629-153389679	NH-A	brain:	n/a
20	chr1:153389629-153389679	SK-N-SH_RA	brain:	n/a
21	chr1:153389629-153389679	AG09309	skin:	n/a
22	chr1:153389629-153389679	ovcar-3	ovarian:	n/a
23	chr1:153389629-153389679	Hela-S3	cervix:	n/a
24	chr1:153389629-153389679	SK-N-MC	brain:	n/a
25	chr1:153389629-153389679	AG04449	skin:	fetal
26	chr1:153389629-153389679	AoSMC	blood vessel:	n/a
27	chr1:153389629-153389679	HRPEpiC	eye:	n/a
28	chr1:153389629-153389679	GM12878	blood:	n/a
29	chr1:153389629-153389679	HL-60	blood:	n/a
30	chr1:153389629-153389679	HNPCEpiC	eye:	n/a
31	chr1:153389629-153389679	HMEC	breast:	n/a
32	chr1:153389629-153389679	BJ	skin:	n/a
33	chr1:153389629-153389679	CMK	blood:	n/a
34	chr1:153389629-153389679	GM12892	blood:	n/a
35	chr1:153389629-153389679	Jurkat	blood:	n/a
36	chr1:153389629-153389679	PFSK-1	brain:	n/a
37	chr1:153389629-153389679	BE2_C	brain:	n/a
38	chr1:153389629-153389679	HUVEC	blood vessel:	n/a
39	chr1:153389629-153389679	HEK293	kidney:	embryo
40	chr1:153389629-153389679	MCF-7	breast:	n/a
41	chr1:153389629-153389679	K562	blood:	n/a
42	chr1:153389629-153389679	HRE	kidney:	n/a
43	chr1:153389629-153389679	HCF	heart:	n/a
44	chr1:153389629-153389679	GM06990	blood:	n/a
45	chr1:153389629-153389679	NT2-D1	testis:	n/a
46	chr1:153389629-153389679	HEEpiC	esophagus:	n/a
47	chr1:153389629-153389679	NHBE	bronchial:	n/a
48	chr1:153389629-153389679	MCF10A-Er-Src	breast:	n/a
49	chr1:153389629-153389679	PANC-1	pancreas:	n/a
50	chr1:153389629-153389679	T-47D	breast:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr1:153327790..153331196-chr1:153389246..153391874,3	MCF-7	breast:
2	chr1:153387905..153390806-chr1:153399321..153401492,2	MCF-7	breast:
3	chr1:153360935..153365093-chr1:153387000..153389664,4	MCF-7	breast:
4	chr1:153329201..153331656-chr1:153387382..153389992,2	MCF-7	breast:

No data

Variant related genes	Relation type
S100A7A	CpG island
ENSG00000163220	Chromatin interaction
ENSG00000143546	Chromatin interaction
ENSG00000203781	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs4271152	0.91[AFR][1000 genomes]
rs56824006	0.91[AFR][1000 genomes]
rs60096515	0.91[AFR][1000 genomes]
rs73018466	0.84[AFR][1000 genomes]
rs73018473	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
2	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
3	nsv533877	chr1:152923645-153468131	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv1002705	chr1:153307852-153525589	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
5	nsv946398	chr1:153377694-153390350	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153389000-153390200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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