Variant report

Variant	rs11205062
Chromosome Location	chr1:152635201-152635202
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: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	chr1:152635200-152635250	HRCEpiC	kidney:	n/a
2	chr1:152635200-152635250	HEEpiC	esophagus:	n/a
3	chr1:152635200-152635250	AG09309	skin:	n/a
4	chr1:152635200-152635250	HUVEC	blood vessel:	n/a
5	chr1:152635200-152635250	Jurkat	blood:	n/a
6	chr1:152635200-152635250	HRE	kidney:	n/a
7	chr1:152635200-152635250	H1-hESC	embryonic stem cell:	embryo
8	chr1:152635200-152635250	ECC-1	luminal epithelium:	n/a
9	chr1:152635200-152635250	RPTEC	kidney:	n/a
10	chr1:152635200-152635250	AG10803	skin:	n/a
11	chr1:152635200-152635250	HMEC	breast:	n/a
12	chr1:152635200-152635250	A549	lung:	n/a
13	chr1:152635200-152635250	HL-60	blood:	n/a
14	chr1:152635200-152635250	HPAEpiC	pulmonary alveolar:	n/a
15	chr1:152635200-152635250	HRPEpiC	eye:	n/a
16	chr1:152635200-152635250	BE2_C	brain:	n/a
17	chr1:152635200-152635250	SAEC	small airway:	n/a
18	chr1:152635200-152635250	MCF-7	breast:	n/a
19	chr1:152635200-152635250	NT2-D1	testis:	n/a
20	chr1:152635200-152635250	T-47D	breast:	n/a
21	chr1:152635200-152635250	IMR90	lung:	fetal
22	chr1:152635200-152635250	AG04449	skin:	fetal
23	chr1:152635200-152635250	CMK	blood:	n/a
24	chr1:152635200-152635250	HCPEpiC	choroid plexus:	n/a
25	chr1:152635200-152635250	AG09319	gingival:	n/a
26	chr1:152635200-152635250	MCF10A-Er-Src	breast:	n/a
27	chr1:152635200-152635250	U87	brain:	n/a
28	chr1:152635200-152635250	GM12891	blood:	n/a
29	chr1:152635200-152635250	AG04450	lung:	fetal
30	chr1:152635200-152635250	Hepatocyte	liver:	n/a
31	chr1:152635200-152635250	NH-A	brain:	n/a
32	chr1:152635200-152635250	GM19239	blood:	n/a
33	chr1:152635200-152635250	Hela-S3	cervix:	n/a
34	chr1:152635200-152635250	AoSMC	blood vessel:	n/a
35	chr1:152635200-152635250	NB4	blood:	n/a
36	chr1:152635200-152635250	HAEpiC	amniotic membrane:	n/a
37	chr1:152635200-152635250	HCT-116	colon:	n/a
38	chr1:152635200-152635250	HEK293	kidney:	embryo
39	chr1:152635200-152635250	HCM	heart:	n/a
40	chr1:152635200-152635250	SK-N-MC	brain:	n/a
41	chr1:152635200-152635250	HepG2	liver:	n/a
42	chr1:152635200-152635250	K562	blood:	n/a
43	chr1:152635200-152635250	SK-N-SH	brain:	n/a
44	chr1:152635200-152635250	HIPEpiC	eye:	n/a
45	chr1:152635200-152635250	ProgFib	skin:	n/a
46	chr1:152635200-152635250	PFSK-1	brain:	n/a
47	chr1:152635200-152635250	SK-N-SH_RA	brain:	n/a
48	chr1:152635200-152635250	BJ	skin:	n/a
49	chr1:152635200-152635250	PANC-1	pancreas:	n/a
50	chr1:152635200-152635250	GM06990	blood:	n/a

No data

Variant related genes	Relation type
LCE2D	CpG island

Extended variants
information (count: 123 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs1011297	0.85[ASN][1000 genomes]
rs10788844	0.87[ASN][1000 genomes]
rs10888504	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap]
rs10888505	0.94[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs10888506	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10888507	0.94[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10888509	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs11205045	0.85[ASN][1000 genomes]
rs11205046	0.97[CHD][hapmap];0.85[ASN][1000 genomes]
rs11205047	0.85[ASN][1000 genomes]
rs11205048	0.85[ASN][1000 genomes]
rs11205049	0.85[ASN][1000 genomes]
rs11205050	0.85[ASN][1000 genomes]
rs11205056	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11205060	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap]
rs11205061	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11205066	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs11205072	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11205073	0.85[CHB][hapmap];0.97[CHD][hapmap];0.93[YRI][hapmap];0.87[ASN][1000 genomes]
rs11205078	0.85[CHB][hapmap];0.92[YRI][hapmap];0.86[ASN][1000 genomes]
rs11205080	1.00[CEU][hapmap]
rs11205084	1.00[CEU][hapmap]
rs11580546	0.85[ASN][1000 genomes]
rs11581621	0.85[ASN][1000 genomes]
rs11582021	0.85[ASN][1000 genomes]
rs11587218	0.85[ASN][1000 genomes]
rs12032251	0.85[ASN][1000 genomes]
rs12036739	0.85[MEX][hapmap]
rs12041270	0.85[ASN][1000 genomes]
rs12043198	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12071335	0.83[ASN][1000 genomes]
rs12074783	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12081753	0.85[ASN][1000 genomes]
rs12081793	0.85[ASN][1000 genomes]
rs12239432	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12239456	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12564254	0.85[ASN][1000 genomes]
rs12564476	0.83[ASN][1000 genomes]
rs12566080	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12728742	0.85[ASN][1000 genomes]
rs12745646	0.85[ASN][1000 genomes]
rs12752346	0.85[ASN][1000 genomes]
rs1325508	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1332497	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs1359515	0.97[CHD][hapmap];0.85[ASN][1000 genomes]
rs1359516	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1412542	0.85[CHB][hapmap]
rs1474168	0.97[CHD][hapmap];0.85[ASN][1000 genomes]
rs1474169	0.85[ASN][1000 genomes]
rs1575753	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1581802	0.94[CHD][hapmap];0.85[ASN][1000 genomes]
rs1581804	0.97[CHD][hapmap];0.85[ASN][1000 genomes]
rs16834343	0.80[EUR][1000 genomes]
rs1819470	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1853805	0.87[ASN][1000 genomes]
rs1886732	1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1888966	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1925661	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.92[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1925663	0.86[ASN][1000 genomes]
rs1930126	0.85[CHB][hapmap];0.87[ASN][1000 genomes]
rs2224986	1.00[CEU][hapmap]
rs3753453	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3904413	0.85[CHB][hapmap]
rs3904414	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3904415	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3908717	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4287181	1.00[CHD][hapmap];0.86[ASN][1000 genomes]
rs4320779	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4353096	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4540662	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4845317	0.85[CHB][hapmap];0.94[CHD][hapmap];0.86[ASN][1000 genomes]
rs4845456	0.81[CHB][hapmap];0.85[ASN][1000 genomes]
rs4845457	0.97[CHD][hapmap];0.85[ASN][1000 genomes]
rs55644922	0.85[ASN][1000 genomes]
rs55687384	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59349974	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59540569	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59633986	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59863780	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60208884	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60350222	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60861680	0.85[ASN][1000 genomes]
rs66587527	0.89[ASN][1000 genomes]
rs6660162	0.85[ASN][1000 genomes]
rs6662989	0.85[ASN][1000 genomes]
rs6671975	0.85[ASN][1000 genomes]
rs6687570	0.85[ASN][1000 genomes]
rs6687682	0.85[ASN][1000 genomes]
rs6702474	0.85[ASN][1000 genomes]
rs73009167	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7527788	0.97[CHD][hapmap];0.85[ASN][1000 genomes]
rs908929	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap]
rs925976	0.85[ASN][1000 genomes]
rs925977	0.97[CHD][hapmap];0.85[ASN][1000 genomes]
rs942826	1.00[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs942827	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs960752	0.97[CHD][hapmap];0.85[ASN][1000 genomes]
rs989831	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs989832	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs989833	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs989834	1.00[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9970033	0.85[ASN][1000 genomes]
rs9970657	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2750810	chr1:152453669-152660927	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv1827111	chr1:152472839-152690073	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv1830764	chr1:152472839-152690073	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv2757755	chr1:152472839-152898153	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	esv2758970	chr1:152472839-152898153	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	esv33483	chr1:152550269-152775526	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv872447	chr1:152551276-152643160	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv547891	chr1:152556085-152770446	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv872448	chr1:152561408-152643160	Weak transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv469873	chr1:152563260-152713616	ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv482518	chr1:152563260-152713616	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv1001647	chr1:152572876-152678509	Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv427786	chr1:152572990-152898153	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
14	nsv872449	chr1:152583678-152643160	Weak transcription Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	nsv1013433	chr1:152619305-153262215	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
16	nsv535170	chr1:152619305-153262215	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
17	esv3320704	chr1:152632101-152644065	Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
18	esv3320705	chr1:152632101-152644065	Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
19	esv3381714	chr1:152634322-152646230	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
20	esv3334875	chr1:152634640-152646008	Enhancers	TF binding region CpG island Chromatin interactive region	3 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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