Variant report

Variant	rs11149539
Chromosome Location	chr16:34429019-34429020
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	chr16:34428985-34429035	SAEC	small airway:	n/a
2	chr16:34428985-34429035	GM12878	blood:	n/a
3	chr16:34428985-34429035	GM19239	blood:	n/a
4	chr16:34428985-34429035	AG10803	skin:	n/a
5	chr16:34428985-34429035	BJ	skin:	n/a
6	chr16:34428985-34429035	HIPEpiC	eye:	n/a
7	chr16:34428985-34429035	HRPEpiC	eye:	n/a
8	chr16:34428985-34429035	AG04450	lung:	fetal
9	chr16:34428985-34429035	HRE	kidney:	n/a
10	chr16:34428985-34429035	T-47D	breast:	n/a
11	chr16:34428985-34429035	PANC-1	pancreas:	n/a
12	chr16:34428985-34429035	Hela-S3	cervix:	n/a
13	chr16:34428985-34429035	NH-A	brain:	n/a
14	chr16:34428985-34429035	ECC-1	luminal epithelium:	n/a
15	chr16:34428985-34429035	IMR90	lung:	fetal
16	chr16:34428985-34429035	AoSMC	blood vessel:	n/a
17	chr16:34428985-34429035	MCF10A-Er-Src	breast:	n/a
18	chr16:34428985-34429035	CMK	blood:	n/a
19	chr16:34428985-34429035	SK-N-MC	brain:	n/a
20	chr16:34428985-34429035	GM06990	blood:	n/a
21	chr16:34428985-34429035	HRCEpiC	kidney:	n/a
22	chr16:34428985-34429035	NT2-D1	testis:	n/a
23	chr16:34428985-34429035	GM12891	blood:	n/a
24	chr16:34428985-34429035	ProgFib	skin:	n/a
25	chr16:34428985-34429035	NHBE	bronchial:	n/a
26	chr16:34428985-34429035	HAEpiC	amniotic membrane:	n/a
27	chr16:34428985-34429035	LNCaP	prostate:	n/a
28	chr16:34428985-34429035	HCM	heart:	n/a
29	chr16:34428985-34429035	MCF-7	breast:	n/a
30	chr16:34428985-34429035	SK-N-SH	brain:	n/a
31	chr16:34428985-34429035	Hepatocyte	liver:	n/a
32	chr16:34428985-34429035	HUVEC	blood vessel:	n/a
33	chr16:34428985-34429035	GM12892	blood:	n/a
34	chr16:34428985-34429035	HEEpiC	esophagus:	n/a
35	chr16:34428985-34429035	PrEC	prostate:	n/a
36	chr16:34428985-34429035	K562	blood:	n/a
37	chr16:34428985-34429035	SKMC	muscle:	n/a
38	chr16:34428985-34429035	NHDF-neo	bronchial:	n/a
39	chr16:34428985-34429035	AG04449	skin:	fetal
40	chr16:34428985-34429035	Caco-2	colon:	n/a
41	chr16:34428985-34429035	HNPCEpiC	eye:	n/a
42	chr16:34428985-34429035	U87	brain:	n/a
43	chr16:34428985-34429035	HepG2	liver:	n/a
44	chr16:34428985-34429035	HCT-116	colon:	n/a
45	chr16:34428985-34429035	AG09309	skin:	n/a
46	chr16:34428985-34429035	SK-N-SH_RA	brain:	n/a
47	chr16:34428985-34429035	H1-hESC	embryonic stem cell:	embryo
48	chr16:34428985-34429035	HCPEpiC	choroid plexus:	n/a
49	chr16:34428985-34429035	BE2_C	brain:	n/a
50	chr16:34428985-34429035	A549	lung:	n/a

No data

Variant related genes	Relation type
ENSG00000261398	CpG island

Extended variants
information (count: 134 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs1094595	0.83[EUR][1000 genomes]
rs11149540	1.00[CEU][hapmap];0.85[YRI][hapmap]
rs11149542	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11642319	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11648428	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11859174	1.00[CEU][hapmap]
rs11859583	1.00[CEU][hapmap]
rs11860956	1.00[CEU][hapmap];0.84[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11862339	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs11862408	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs12102949	1.00[EUR][1000 genomes]
rs12444315	0.83[EUR][1000 genomes]
rs12598235	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12599975	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12923344	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs12928771	0.83[EUR][1000 genomes]
rs13332284	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13332932	1.00[CEU][hapmap];0.84[YRI][hapmap]
rs13336072	1.00[CEU][hapmap];0.84[YRI][hapmap]
rs171123	1.00[EUR][1000 genomes]
rs17841578	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs1833215	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1865388	0.83[EUR][1000 genomes]
rs1982118	1.00[CEU][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2170422	1.00[CEU][hapmap];0.85[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs237977	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs237981	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs237988	0.83[EUR][1000 genomes]
rs237991	0.83[EUR][1000 genomes]
rs237992	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449091	0.83[EUR][1000 genomes]
rs2623779	1.00[CEU][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2623786	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2623789	0.83[EUR][1000 genomes]
rs2630995	0.83[EUR][1000 genomes]
rs2630996	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs2631000	0.83[EUR][1000 genomes]
rs281589	1.00[CEU][hapmap];0.85[YRI][hapmap]
rs281591	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs281592	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs281593	1.00[CEU][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs281594	1.00[CEU][hapmap];0.84[YRI][hapmap]
rs281595	1.00[CEU][hapmap];0.85[YRI][hapmap]
rs281598	1.00[CEU][hapmap];0.85[YRI][hapmap]
rs281612	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28489613	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35852265	0.83[EUR][1000 genomes]
rs3853179	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs385974	1.00[CEU][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs409110	1.00[CEU][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs42559	0.84[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4627360	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58309049	0.83[EUR][1000 genomes]
rs58636981	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59344183	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61287001	0.83[EUR][1000 genomes]
rs6420378	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs6563859	1.00[CEU][hapmap];0.85[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6563860	0.83[EUR][1000 genomes]
rs6563862	1.00[CEU][hapmap]
rs6563866	1.00[CEU][hapmap];0.85[YRI][hapmap]
rs6563868	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6563869	1.00[CEU][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6563883	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7186269	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7187312	0.83[EUR][1000 genomes]
rs7187424	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7205016	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7205899	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7206496	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs7206817	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs7404355	1.00[CEU][hapmap];0.85[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7404459	1.00[CEU][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7404474	0.85[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7404807	1.00[CEU][hapmap];0.85[YRI][hapmap]
rs7404809	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7405218	1.00[EUR][1000 genomes]
rs7499910	0.85[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7500236	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs8044034	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8056977	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs8057484	1.00[EUR][1000 genomes]
rs822693	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9319436	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9783770	1.00[CEU][hapmap];0.85[YRI][hapmap]
rs9921911	0.83[EUR][1000 genomes]
rs9923316	0.83[EUR][1000 genomes]
rs9923445	1.00[EUR][1000 genomes]
rs9924407	0.83[EUR][1000 genomes]
rs9925286	0.83[EUR][1000 genomes]
rs9926843	0.83[EUR][1000 genomes]
rs9927120	0.83[EUR][1000 genomes]
rs9932932	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9933975	1.00[CEU][hapmap]
rs9934993	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9936590	0.83[EUR][1000 genomes]
rs9936796	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9937317	1.00[CEU][hapmap];0.85[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9939857	1.00[CEU][hapmap];0.80[YRI][hapmap]
rs9940300	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv32538	chr16:33935506-34459464	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
2	nsv431453	chr16:33940200-34760967	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	74 gene(s)	inside rSNPs	diseases
3	nsv906655	chr16:34176875-34597156	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1066136	chr16:34197339-34434323	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1064842	chr16:34197339-34472275	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv1063819	chr16:34197339-34492332	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
7	nsv1056658	chr16:34197339-34682514	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
8	nsv917674	chr16:34201887-34682588	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
9	nsv1067686	chr16:34202088-35147508	ZNF genes & repeats Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
10	nsv532260	chr16:34202088-35147508	Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
11	nsv457484	chr16:34221454-34535583	ZNF genes & repeats Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
12	nsv572376	chr16:34221454-34535583	ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
13	nsv521817	chr16:34221454-35168832	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
14	nsv521994	chr16:34221454-35168832	Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
15	nsv906656	chr16:34243979-34535583	ZNF genes & repeats Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
16	nsv516385	chr16:34259805-34805859	ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
17	esv2751557	chr16:34263599-34757071	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
18	nsv906657	chr16:34284743-34517789	ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
19	nsv431454	chr16:34321463-34790434	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
20	nsv428326	chr16:34357763-34769642	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
21	nsv431455	chr16:34359599-34796499	ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
22	esv2758422	chr16:34362213-34769642	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
23	nsv510685	chr16:34373795-34438368	ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
24	nsv143	chr16:34378952-34732704	Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
25	nsv144	chr16:34390796-34715796	Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
26	esv2751558	chr16:34410569-34757071	Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
27	esv2756010	chr16:34421701-34733876	Enhancers ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
28	nsv431456	chr16:34421701-34733876	Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
29	nsv431458	chr16:34421701-34760999	Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
30	nsv145	chr16:34423094-34475651	ZNF genes & repeats Active TSS Bivalent/Poised TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
31	esv2752478	chr16:34424309-34733876	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
32	nsv917579	chr16:34427599-34727491	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
33	nsv534678	chr16:34427859-34682448	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
34	nsv497944	chr16:34427916-34727365	ZNF genes & repeats Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 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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