Variant report

Variant	rs17253841
Chromosome Location	chr14:56258101-56258102
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:56256977..56259600-chr14:56273193..56275837,3	K562	blood:
2	chr14:56209875..56212045-chr14:56256095..56258296,2	MCF-7	breast:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10134507	0.89[EUR][1000 genomes]
rs11620875	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11621835	0.81[EUR][1000 genomes]
rs11622627	0.96[CEU][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11622641	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11622710	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11624167	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11624516	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11625571	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11625869	0.83[EUR][1000 genomes]
rs11626057	0.81[EUR][1000 genomes]
rs11627629	1.00[CEU][hapmap];0.88[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11628040	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12890121	0.83[EUR][1000 genomes]
rs12894971	0.81[EUR][1000 genomes]
rs17832467	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1999705	0.96[EUR][1000 genomes]
rs1999706	0.96[EUR][1000 genomes]
rs2105058	0.84[EUR][1000 genomes]
rs2152287	0.84[EUR][1000 genomes]
rs2342594	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2342595	0.96[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34096981	0.84[EUR][1000 genomes]
rs34421003	0.96[EUR][1000 genomes]
rs34540577	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34663121	0.81[EUR][1000 genomes]
rs35290945	0.81[EUR][1000 genomes]
rs35527253	0.82[EUR][1000 genomes]
rs35559254	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs36096896	0.83[EUR][1000 genomes]
rs36149160	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs36188950	0.97[EUR][1000 genomes]
rs4601950	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55788205	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55837858	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57658601	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61975563	0.82[EUR][1000 genomes]
rs61975579	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61977779	0.88[ASN][1000 genomes]
rs61977780	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61977781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61977782	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61977785	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs999817	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832804	chr14:56083850-56277632	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv901966	chr14:56160904-56436203	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv901969	chr14:56183127-56258997	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv901970	chr14:56183127-56265176	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv901971	chr14:56183127-56265176	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv901975	chr14:56192577-56260033	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv901976	chr14:56192577-56265176	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv901977	chr14:56213392-56492996	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56247400-56258400	Weak transcription	Psoas Muscle	Psoas
2	chr14:56249000-56260800	Weak transcription	K562	blood
3	chr14:56251800-56259600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:56256000-56258200	Enhancers	A549	lung
5	chr14:56256200-56259000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr14:56256400-56261800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr14:56256800-56259000	Enhancers	HUVEC	blood vessel
8	chr14:56257000-56260000	Weak transcription	Spleen	Spleen
9	chr14:56257400-56258600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr14:56257400-56263000	Enhancers	Hela-S3	cervix
11	chr14:56257600-56258600	Enhancers	Stomach Mucosa	stomach
12	chr14:56257600-56258800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr14:56257600-56258800	Weak transcription	Left Ventricle	heart
14	chr14:56257600-56271600	Weak transcription	Gastric	stomach
15	chr14:56257800-56258200	Enhancers	NH-A	brain
16	chr14:56258000-56258400	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr14:56258000-56258600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr14:56258000-56258600	Enhancers	Adipose Nuclei	Adipose

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