Variant report

Variant	rs2841249
Chromosome Location	chr14:105368733-105368734
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:1)
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	chr14:105368685-105368735	HRE	kidney:	n/a
2	chr14:105368685-105368735	LNCaP	prostate:	n/a
3	chr14:105368685-105368735	AG04450	lung:	fetal
4	chr14:105368685-105368735	NHBE	bronchial:	n/a
5	chr14:105368685-105368735	SK-N-MC	brain:	n/a
6	chr14:105368685-105368735	SAEC	small airway:	n/a
7	chr14:105368685-105368735	HUVEC	blood vessel:	n/a
8	chr14:105368685-105368735	BE2_C	brain:	n/a
9	chr14:105368685-105368735	AG09319	gingival:	n/a
10	chr14:105368685-105368735	BJ	skin:	n/a
11	chr14:105368685-105368735	AG10803	skin:	n/a
12	chr14:105368685-105368735	NHDF-neo	bronchial:	n/a
13	chr14:105368685-105368735	NT2-D1	testis:	n/a
14	chr14:105368685-105368735	HRCEpiC	kidney:	n/a
15	chr14:105368685-105368735	HCM	heart:	n/a
16	chr14:105368685-105368735	HIPEpiC	eye:	n/a
17	chr14:105368685-105368735	K562	blood:	n/a
18	chr14:105368685-105368735	RPTEC	kidney:	n/a
19	chr14:105368685-105368735	HL-60	blood:	n/a
20	chr14:105368685-105368735	NH-A	brain:	n/a
21	chr14:105368685-105368735	Caco-2	colon:	n/a
22	chr14:105368685-105368735	AG04449	skin:	fetal
23	chr14:105368685-105368735	Jurkat	blood:	n/a
24	chr14:105368685-105368735	Hepatocyte	liver:	n/a
25	chr14:105368685-105368735	HMEC	breast:	n/a
26	chr14:105368685-105368735	A549	lung:	n/a
27	chr14:105368685-105368735	HCPEpiC	choroid plexus:	n/a
28	chr14:105368685-105368735	SK-N-SH	brain:	n/a
29	chr14:105368685-105368735	T-47D	breast:	n/a
30	chr14:105368685-105368735	MCF10A-Er-Src	breast:	n/a
31	chr14:105368685-105368735	AoSMC	blood vessel:	n/a
32	chr14:105368685-105368735	U87	brain:	n/a
33	chr14:105368685-105368735	PFSK-1	brain:	n/a
34	chr14:105368685-105368735	GM12878	blood:	n/a
35	chr14:105368685-105368735	NB4	blood:	n/a
36	chr14:105368685-105368735	PANC-1	pancreas:	n/a
37	chr14:105368685-105368735	PrEC	prostate:	n/a
38	chr14:105368685-105368735	GM12892	blood:	n/a
39	chr14:105368685-105368735	HRPEpiC	eye:	n/a
40	chr14:105368685-105368735	HCT-116	colon:	n/a
41	chr14:105368685-105368735	SK-N-SH_RA	brain:	n/a
42	chr14:105368685-105368735	ProgFib	skin:	n/a
43	chr14:105368685-105368735	GM19239	blood:	n/a
44	chr14:105368685-105368735	ovcar-3	ovarian:	n/a
45	chr14:105368685-105368735	Hela-S3	cervix:	n/a
46	chr14:105368685-105368735	HNPCEpiC	eye:	n/a
47	chr14:105368685-105368735	ECC-1	luminal epithelium:	n/a
48	chr14:105368685-105368735	HPAEpiC	pulmonary alveolar:	n/a
49	chr14:105368685-105368735	GM06990	blood:	n/a
50	chr14:105368685-105368735	HAEpiC	amniotic membrane:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:105364425..105366237-chr14:105368501..105370477,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000259067	CpG island

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11850227	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11851065	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12050087	1.00[CHB][hapmap]
rs1595949	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1595950	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2582538	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2582539	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2582540	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2582559	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs2841234	1.00[CHB][hapmap]
rs2841247	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][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];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2841250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2841253	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][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];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2841255	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2841256	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2841263	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2841279	1.00[CHB][hapmap]
rs34004095	0.89[ASN][1000 genomes]
rs57362922	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7156604	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053591	chr14:105024558-105475931	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv542224	chr14:105024558-105475931	Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	esv1828345	chr14:105100787-105803170	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
4	nsv542225	chr14:105133688-105803170	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
5	nsv542227	chr14:105157572-105803170	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
6	nsv456456	chr14:105285159-105412541	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv566099	chr14:105285159-105412541	Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv917106	chr14:105339195-105803170	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
9	nsv566139	chr14:105347296-105417147	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	esv1833957	chr14:105366499-105373951	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	esv1838254	chr14:105366499-105373951	Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105354000-105369800	Weak transcription	HSMMtube	muscle
2	chr14:105365800-105370800	Weak transcription	Fetal Lung	lung
3	chr14:105368000-105369600	Weak transcription	GM12878-XiMat	blood

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