Variant report

Variant	rs17866144
Chromosome Location	chr7:126752818-126752819
allele	C/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: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	chr7:126752816-126752866	NB4	blood:	n/a
2	chr7:126752816-126752866	ECC-1	luminal epithelium:	n/a
3	chr7:126752816-126752866	HepG2	liver:	n/a
4	chr7:126752816-126752866	GM12892	blood:	n/a
5	chr7:126752816-126752866	HCF	heart:	n/a
6	chr7:126752816-126752866	HMEC	breast:	n/a
7	chr7:126752816-126752866	BJ	skin:	n/a
8	chr7:126752816-126752866	MCF10A-Er-Src	breast:	n/a
9	chr7:126752816-126752866	HAEpiC	amniotic membrane:	n/a
10	chr7:126752816-126752866	SK-N-MC	brain:	n/a
11	chr7:126752816-126752866	H1-hESC	embryonic stem cell:	embryo
12	chr7:126752816-126752866	AG09309	skin:	n/a
13	chr7:126752816-126752866	GM19239	blood:	n/a
14	chr7:126752816-126752866	Jurkat	blood:	n/a
15	chr7:126752816-126752866	HCT-116	colon:	n/a
16	chr7:126752816-126752866	HPAEpiC	pulmonary alveolar:	n/a
17	chr7:126752816-126752866	HEK293	kidney:	embryo
18	chr7:126752816-126752866	SAEC	small airway:	n/a
19	chr7:126752816-126752866	SKMC	muscle:	n/a
20	chr7:126752816-126752866	AoSMC	blood vessel:	n/a
21	chr7:126752816-126752866	HRCEpiC	kidney:	n/a
22	chr7:126752816-126752866	IMR90	lung:	fetal
23	chr7:126752816-126752866	HL-60	blood:	n/a
24	chr7:126752816-126752866	AG04450	lung:	fetal
25	chr7:126752816-126752866	SK-N-SH_RA	brain:	n/a
26	chr7:126752816-126752866	RPTEC	kidney:	n/a
27	chr7:126752816-126752866	HRPEpiC	eye:	n/a
28	chr7:126752816-126752866	GM12878	blood:	n/a
29	chr7:126752816-126752866	SK-N-SH	brain:	n/a
30	chr7:126752816-126752866	HUVEC	blood vessel:	n/a
31	chr7:126752816-126752866	GM12891	blood:	n/a
32	chr7:126752816-126752866	NHDF-neo	bronchial:	n/a
33	chr7:126752816-126752866	PFSK-1	brain:	n/a
34	chr7:126752816-126752866	HEEpiC	esophagus:	n/a
35	chr7:126752816-126752866	K562	blood:	n/a
36	chr7:126752816-126752866	NT2-D1	testis:	n/a
37	chr7:126752816-126752866	AG09319	gingival:	n/a
38	chr7:126752816-126752866	PANC-1	pancreas:	n/a
39	chr7:126752816-126752866	GM06990	blood:	n/a
40	chr7:126752816-126752866	HIPEpiC	eye:	n/a
41	chr7:126752816-126752866	A549	lung:	n/a
42	chr7:126752816-126752866	Hela-S3	cervix:	n/a
43	chr7:126752816-126752866	Hepatocyte	liver:	n/a
44	chr7:126752816-126752866	HCPEpiC	choroid plexus:	n/a
45	chr7:126752816-126752866	NHBE	bronchial:	n/a
46	chr7:126752816-126752866	Caco-2	colon:	n/a
47	chr7:126752816-126752866	LNCaP	prostate:	n/a
48	chr7:126752816-126752866	PrEC	prostate:	n/a
49	chr7:126752816-126752866	ProgFib	skin:	n/a
50	chr7:126752816-126752866	MCF-7	breast:	n/a

No data

Variant related genes	Relation type
GRM8	CpG island

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs17865088	1.00[YRI][hapmap]
rs17865221	0.88[YRI][hapmap]
rs17865283	0.88[YRI][hapmap]
rs17865293	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs17865313	0.89[YRI][hapmap]
rs17865511	0.89[YRI][hapmap];0.90[AFR][1000 genomes]
rs17865857	0.88[YRI][hapmap]
rs17865862	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs17866035	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs17866151	0.89[AFR][1000 genomes]
rs17866240	0.88[YRI][hapmap]
rs17866251	1.00[YRI][hapmap]
rs17866296	0.89[YRI][hapmap];0.90[AFR][1000 genomes]
rs17866779	0.85[AFR][1000 genomes]
rs17866881	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs17866945	0.88[YRI][hapmap]
rs17866947	0.88[YRI][hapmap]
rs17867033	1.00[YRI][hapmap]
rs17867096	0.89[YRI][hapmap];0.90[AFR][1000 genomes]
rs17867119	0.88[YRI][hapmap]
rs17867142	0.82[AFR][1000 genomes]
rs17867202	0.88[YRI][hapmap]
rs17867217	0.88[YRI][hapmap]
rs17867218	0.89[YRI][hapmap]
rs17867252	0.88[YRI][hapmap]
rs17867319	0.95[AFR][1000 genomes]
rs17869249	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs17869347	0.88[YRI][hapmap]
rs17875028	0.88[YRI][hapmap]
rs73720662	0.90[AFR][1000 genomes]
rs73720663	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831121	chr7:126593363-126774413	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv889189	chr7:126699088-126963028	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2761367	chr7:126717157-126865324	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv518034	chr7:126750322-126753750	Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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