Variant report

Variant	rs17743708
Chromosome Location	chr16:48221579-48221580
allele	A/C
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	chr16:48221573-48221623	NB4	blood:	n/a
2	chr16:48221573-48221623	AG09319	gingival:	n/a
3	chr16:48221573-48221623	SK-N-MC	brain:	n/a
4	chr16:48221573-48221623	CMK	blood:	n/a
5	chr16:48221573-48221623	HRPEpiC	eye:	n/a
6	chr16:48221573-48221623	Jurkat	blood:	n/a
7	chr16:48221573-48221623	AG04450	lung:	fetal
8	chr16:48221573-48221623	HCM	heart:	n/a
9	chr16:48221573-48221623	NT2-D1	testis:	n/a
10	chr16:48221573-48221623	T-47D	breast:	n/a
11	chr16:48221573-48221623	SK-N-SH	brain:	n/a
12	chr16:48221573-48221623	SKMC	muscle:	n/a
13	chr16:48221573-48221623	RPTEC	kidney:	n/a
14	chr16:48221573-48221623	HNPCEpiC	eye:	n/a
15	chr16:48221573-48221623	BJ	skin:	n/a
16	chr16:48221573-48221623	AG10803	skin:	n/a
17	chr16:48221573-48221623	SK-N-SH_RA	brain:	n/a
18	chr16:48221573-48221623	NHDF-neo	bronchial:	n/a
19	chr16:48221573-48221623	K562	blood:	n/a
20	chr16:48221573-48221623	NHBE	bronchial:	n/a
21	chr16:48221573-48221623	Hepatocyte	liver:	n/a
22	chr16:48221573-48221623	LNCaP	prostate:	n/a
23	chr16:48221573-48221623	AG09309	skin:	n/a
24	chr16:48221573-48221623	SAEC	small airway:	n/a
25	chr16:48221573-48221623	GM06990	blood:	n/a
26	chr16:48221573-48221623	MCF10A-Er-Src	breast:	n/a
27	chr16:48221573-48221623	H1-hESC	embryonic stem cell:	embryo
28	chr16:48221573-48221623	HEEpiC	esophagus:	n/a
29	chr16:48221573-48221623	PrEC	prostate:	n/a
30	chr16:48221573-48221623	PANC-1	pancreas:	n/a
31	chr16:48221573-48221623	HRCEpiC	kidney:	n/a
32	chr16:48221573-48221623	GM12878	blood:	n/a
33	chr16:48221573-48221623	HIPEpiC	eye:	n/a
34	chr16:48221573-48221623	ovcar-3	ovarian:	n/a
35	chr16:48221573-48221623	GM19239	blood:	n/a
36	chr16:48221573-48221623	HAEpiC	amniotic membrane:	n/a
37	chr16:48221573-48221623	PFSK-1	brain:	n/a
38	chr16:48221573-48221623	GM12892	blood:	n/a
39	chr16:48221573-48221623	AoSMC	blood vessel:	n/a
40	chr16:48221573-48221623	HCT-116	colon:	n/a
41	chr16:48221573-48221623	NH-A	brain:	n/a
42	chr16:48221573-48221623	BE2_C	brain:	n/a
43	chr16:48221573-48221623	HUVEC	blood vessel:	n/a
44	chr16:48221573-48221623	HCF	heart:	n/a
45	chr16:48221573-48221623	GM12891	blood:	n/a
46	chr16:48221573-48221623	IMR90	lung:	fetal
47	chr16:48221573-48221623	HepG2	liver:	n/a
48	chr16:48221573-48221623	HEK293	kidney:	embryo
49	chr16:48221573-48221623	U87	brain:	n/a
50	chr16:48221573-48221623	ECC-1	luminal epithelium:	n/a

No data

Variant related genes	Relation type
ABCC11	CpG island

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12149826	0.85[MKK][hapmap]
rs17821664	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17822052	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs41280941	1.00[EUR][1000 genomes]
rs55978876	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61739606	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62058520	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62058523	1.00[EUR][1000 genomes]
rs62058524	1.00[EUR][1000 genomes]
rs62058525	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62058527	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62058529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62058530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62058531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8050306	1.00[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	nsv1059259	chr16:48113396-48304404	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv542916	chr16:48113396-48304404	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17743708	LRRIQ3	trans	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48199200-48226600	Weak transcription	Spleen	Spleen
2	chr16:48216400-48226400	Weak transcription	Esophagus	oesophagus
3	chr16:48218800-48228000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr16:48219800-48221600	Weak transcription	HepG2	liver
5	chr16:48220000-48222000	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr16:48220800-48224000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr16:48221400-48222000	Enhancers	Monocytes-CD14+_RO01746	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links