Variant report

Variant	rs7227421
Chromosome Location	chr18:11749198-11749199
allele	A/G
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:2)
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	chr18:11749182-11749232	PFSK-1	brain:	n/a
2	chr18:11749182-11749232	Jurkat	blood:	n/a
3	chr18:11749182-11749232	HCT-116	colon:	n/a
4	chr18:11749182-11749232	HRE	kidney:	n/a
5	chr18:11749182-11749232	NHBE	bronchial:	n/a
6	chr18:11749182-11749232	ovcar-3	ovarian:	n/a
7	chr18:11749182-11749232	GM19239	blood:	n/a
8	chr18:11749182-11749232	HEK293	kidney:	embryo
9	chr18:11749182-11749232	LNCaP	prostate:	n/a
10	chr18:11749182-11749232	CMK	blood:	n/a
11	chr18:11749182-11749232	MCF-7	breast:	n/a
12	chr18:11749182-11749232	Hela-S3	cervix:	n/a
13	chr18:11749182-11749232	GM12878	blood:	n/a
14	chr18:11749182-11749232	HNPCEpiC	eye:	n/a
15	chr18:11749182-11749232	HMEC	breast:	n/a
16	chr18:11749182-11749232	GM06990	blood:	n/a
17	chr18:11749182-11749232	SK-N-SH_RA	brain:	n/a
18	chr18:11749182-11749232	ECC-1	luminal epithelium:	n/a
19	chr18:11749182-11749232	HRCEpiC	kidney:	n/a
20	chr18:11749182-11749232	GM12892	blood:	n/a
21	chr18:11749182-11749232	HEEpiC	esophagus:	n/a
22	chr18:11749182-11749232	NT2-D1	testis:	n/a
23	chr18:11749182-11749232	AG04450	lung:	fetal
24	chr18:11749182-11749232	HepG2	liver:	n/a
25	chr18:11749182-11749232	AG10803	skin:	n/a
26	chr18:11749182-11749232	U87	brain:	n/a
27	chr18:11749182-11749232	Caco-2	colon:	n/a
28	chr18:11749182-11749232	AG04449	skin:	fetal
29	chr18:11749182-11749232	GM12891	blood:	n/a
30	chr18:11749182-11749232	NH-A	brain:	n/a
31	chr18:11749182-11749232	SAEC	small airway:	n/a
32	chr18:11749182-11749232	HIPEpiC	eye:	n/a
33	chr18:11749182-11749232	H1-hESC	embryonic stem cell:	embryo
34	chr18:11749182-11749232	HL-60	blood:	n/a
35	chr18:11749182-11749232	NB4	blood:	n/a
36	chr18:11749182-11749232	NHDF-neo	bronchial:	n/a
37	chr18:11749182-11749232	HCPEpiC	choroid plexus:	n/a
38	chr18:11749182-11749232	MCF10A-Er-Src	breast:	n/a
39	chr18:11749182-11749232	HCF	heart:	n/a
40	chr18:11749182-11749232	AG09319	gingival:	n/a
41	chr18:11749182-11749232	AoSMC	blood vessel:	n/a
42	chr18:11749182-11749232	IMR90	lung:	fetal
43	chr18:11749182-11749232	HRPEpiC	eye:	n/a
44	chr18:11749182-11749232	Hepatocyte	liver:	n/a
45	chr18:11749182-11749232	PrEC	prostate:	n/a
46	chr18:11749182-11749232	SK-N-SH	brain:	n/a
47	chr18:11749182-11749232	BE2_C	brain:	n/a
48	chr18:11749182-11749232	A549	lung:	n/a
49	chr18:11749182-11749232	K562	blood:	n/a
50	chr18:11749182-11749232	RPTEC	kidney:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:11748809..11750992-chr18:11849434..11851351,2	MCF-7	breast:
2	chr18:11748919..11750725-chr18:11752622..11755025,2	K562	blood:

No data

Variant related genes	Relation type
GNAL	CpG island
ENSG00000141404	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1249628	1.00[CEU][hapmap]
rs16973028	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16976623	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28468616	0.90[ASN][1000 genomes]
rs2903236	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.94[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4547404	1.00[ASN][1000 genomes]
rs56069280	0.83[ASN][1000 genomes]
rs60025683	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61184045	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6505673	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7234970	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73944252	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73946312	0.90[ASN][1000 genomes]
rs73946313	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73947607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8084370	0.93[ASN][1000 genomes]
rs8084625	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8085082	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9303745	1.00[ASN][1000 genomes]
rs9947295	0.89[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9964761	1.00[ASN][1000 genomes]
rs9967279	0.97[ASN][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	esv3362008	chr18:11647654-11959830	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1065382	chr18:11723230-11769732	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr18:11743000-11749600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr18:11743200-11749600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr18:11747600-11751200	Weak transcription	Brain Anterior Caudate	brain
4	chr18:11748000-11750400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links