Variant report

Variant	rs34478599
Chromosome Location	chr14:42992844-42992845
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 119 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs12879582	1.00[EUR][1000 genomes]
rs12881673	0.97[EUR][1000 genomes]
rs12885872	0.85[EUR][1000 genomes]
rs12887070	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12889329	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12889499	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12891344	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12892109	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12892684	0.97[EUR][1000 genomes]
rs12893355	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12893585	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12893854	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12897229	0.85[EUR][1000 genomes]
rs12897892	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12898123	0.97[EUR][1000 genomes]
rs17113142	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17113149	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34278120	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34342103	0.93[EUR][1000 genomes]
rs34348196	0.85[EUR][1000 genomes]
rs34629550	0.93[EUR][1000 genomes]
rs34723312	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34999317	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35210813	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35244119	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35273778	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35353177	0.93[EUR][1000 genomes]
rs35485657	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35657116	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35807748	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs36010046	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66517579	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66813626	0.85[EUR][1000 genomes]
rs67108906	0.85[EUR][1000 genomes]
rs67236782	0.85[EUR][1000 genomes]
rs67750234	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68016149	0.85[EUR][1000 genomes]
rs71411642	0.82[EUR][1000 genomes]
rs71411644	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7161465	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72680469	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901742	chr14:42584172-43061497	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1045255	chr14:42653021-43167389	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv542059	chr14:42653021-43167389	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv901743	chr14:42672410-43030843	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1051814	chr14:42717053-43100892	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv2759984	chr14:42850654-43008829	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1048117	chr14:42856976-43023571	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv2758354	chr14:42863795-43008829	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1044315	chr14:42875390-43007513	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1042414	chr14:42884353-43154606	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv430995	chr14:42952536-43140276	Weak transcription Enhancers 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	3 gene(s)	inside rSNPs	diseases
12	nsv1042236	chr14:42958233-43113974	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv564570	chr14:42961305-43049048	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv1042451	chr14:42965354-43125167	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv564571	chr14:42971788-43079373	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv564572	chr14:42971788-43083557	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv564573	chr14:42971788-43110583	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	nsv1048855	chr14:42973025-43084486	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	nsv1049568	chr14:42973025-43113974	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
20	nsv1041777	chr14:42973025-43125167	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
21	nsv1048765	chr14:42973025-43290901	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
22	esv2761829	chr14:42973037-43084486	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
23	nsv564574	chr14:42982113-42992844	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
24	nsv564575	chr14:42982701-42992844	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
25	nsv564576	chr14:42983879-42996601	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
26	esv3516106	chr14:42986250-42993356	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
27	esv3425621	chr14:42986352-42994050	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
28	nsv826933	chr14:42986661-42992974	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
29	nsv819994	chr14:42986690-42992961	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
30	nsv9141	chr14:42986735-42994536	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
31	esv3426583	chr14:42986802-42993950	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
32	nsv820672	chr14:42986942-42992974	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
33	nsv564578	chr14:42987086-42992844	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
34	esv3529129	chr14:42987395-42993039	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
35	esv3516104	chr14:42987422-42993043	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
36	esv3516103	chr14:42987435-42993018	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
37	esv3516105	chr14:42987444-42992969	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
38	esv3529140	chr14:42987450-42993016	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
39	esv3529107	chr14:42987451-42993007	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
40	nsv1035926	chr14:42987451-43100892	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
41	nsv1048452	chr14:42987451-43277449	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
42	esv16863	chr14:42987466-42992914	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
43	esv3529096	chr14:42987466-42992960	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
44	esv3516108	chr14:42987468-42992982	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
45	esv3516110	chr14:42987472-42992982	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
46	esv3529118	chr14:42987512-42992938	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
47	esv3516109	chr14:42987523-42992937	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
48	esv3516111	chr14:42987527-42992935	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
49	esv3529151	chr14:42987527-42992935	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
50	esv1834024	chr14:42987866-42992844	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:42992200-42994800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr14:42992800-42993200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr14:42992800-42993200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:42992800-42993200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr14:42992800-42993200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:42992800-42993200	Enhancers	Brain Anterior Caudate	brain
7	chr14:42992800-42993400	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr14:42992800-42993600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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