Variant report

Variant	rs57572051
Chromosome Location	chr14:45131854-45131855
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10484173	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10484176	0.94[ASN][1000 genomes]
rs11627091	0.82[ASN][1000 genomes]
rs11844911	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11847402	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12587277	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12878008	0.82[ASN][1000 genomes]
rs12892234	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12893731	0.80[ASN][1000 genomes]
rs1538613	0.82[ASN][1000 genomes]
rs1538614	0.82[ASN][1000 genomes]
rs17115384	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs17115401	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17115417	0.82[EUR][1000 genomes]
rs1959509	0.82[ASN][1000 genomes]
rs1959510	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1959511	0.94[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2095909	0.82[ASN][1000 genomes]
rs2415872	0.80[ASN][1000 genomes]
rs35386598	0.82[ASN][1000 genomes]
rs35392913	0.82[ASN][1000 genomes]
rs4326955	0.82[ASN][1000 genomes]
rs4399472	0.82[ASN][1000 genomes]
rs4900662	0.82[ASN][1000 genomes]
rs4906555	0.82[ASN][1000 genomes]
rs59561781	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60951630	0.82[ASN][1000 genomes]
rs62013394	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7142648	0.82[ASN][1000 genomes]
rs7149502	0.82[ASN][1000 genomes]
rs7151623	0.82[ASN][1000 genomes]
rs7151866	0.82[ASN][1000 genomes]
rs7161522	0.82[EUR][1000 genomes]
rs8019429	0.82[ASN][1000 genomes]
rs8022105	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054134	chr14:44501865-45271806	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv542074	chr14:44501865-45271806	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv456262	chr14:44733804-45149546	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv564681	chr14:44733804-45149546	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1046622	chr14:44752381-45154325	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv542076	chr14:44752381-45154325	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv869289	chr14:44752382-45447415	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
8	nsv1042407	chr14:44759135-45157448	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv542077	chr14:44759135-45157448	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	esv2753398	chr14:44795350-45207550	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv901832	chr14:44847444-45415597	Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
12	nsv869391	chr14:44948825-45241392	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv995092	chr14:44973489-45393462	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
14	nsv901836	chr14:45054777-45283699	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	esv2758356	chr14:45057833-45313666	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	esv2759986	chr14:45057833-45313666	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
17	nsv517384	chr14:45060617-45250418	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv901838	chr14:45069249-45297050	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
19	nsv564696	chr14:45078976-45211315	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv1041364	chr14:45079566-45211315	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
21	nsv564697	chr14:45081587-45208776	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
22	nsv456275	chr14:45084792-45193744	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
23	nsv564698	chr14:45084792-45193744	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
24	nsv456276	chr14:45084792-45201544	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
25	nsv564699	chr14:45084792-45201544	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
26	esv2753130	chr14:45089423-45207565	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
27	nsv1036140	chr14:45089696-45218502	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
28	nsv542078	chr14:45089696-45218502	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
29	esv2756243	chr14:45107461-45207565	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
30	nsv564700	chr14:45116978-45234246	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
31	nsv1047211	chr14:45123087-45233226	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
32	nsv901839	chr14:45129864-45181337	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45131200-45132000	Enhancers	Primary T helper cells PMA-I stimulated	--
2	chr14:45131200-45132800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr14:45131400-45132400	Enhancers	Fetal Intestine Small	intestine
4	chr14:45131400-45132600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr14:45131400-45133200	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr14:45131600-45132000	Active TSS	Primary T helper naive cells from peripheral blood	blood
7	chr14:45131600-45132000	Flanking Active TSS	Liver	Liver
8	chr14:45131600-45132200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr14:45131600-45132200	Active TSS	Primary T killer memory cells from peripheral blood	blood
10	chr14:45131600-45132200	Enhancers	Dnd41	blood
11	chr14:45131600-45132400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr14:45131600-45132800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr14:45131600-45133000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr14:45131600-45133000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr14:45131600-45133600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr14:45131600-45133600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr14:45131800-45132800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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