Variant report

Variant	rs3123639
Chromosome Location	chr2:214221308-214221309
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs1038750	0.92[EUR][1000 genomes]
rs10455318	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11970502	0.91[EUR][1000 genomes]
rs12194233	0.84[EUR][1000 genomes]
rs12207018	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13193039	0.83[EUR][1000 genomes]
rs13218458	0.82[EUR][1000 genomes]
rs13218818	0.82[EUR][1000 genomes]
rs1385898	0.81[EUR][1000 genomes]
rs1387842	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1387843	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1387851	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1486043	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1486048	0.84[EUR][1000 genomes]
rs1486050	0.81[EUR][1000 genomes]
rs1486051	0.81[EUR][1000 genomes]
rs1490209	0.92[EUR][1000 genomes]
rs1490210	0.92[EUR][1000 genomes]
rs1490213	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1490220	0.92[EUR][1000 genomes]
rs1532134	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1825653	0.81[EUR][1000 genomes]
rs1843572	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1844553	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1960557	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1994334	0.81[EUR][1000 genomes]
rs2029148	0.84[EUR][1000 genomes]
rs2029149	0.84[EUR][1000 genomes]
rs2029150	0.84[EUR][1000 genomes]
rs2101563	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2314706	0.84[EUR][1000 genomes]
rs2314707	0.84[EUR][1000 genomes]
rs2451594	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2504634	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2504986	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2504987	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4088862	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4386775	0.84[EUR][1000 genomes]
rs4478374	0.80[EUR][1000 genomes]
rs4562099	0.83[EUR][1000 genomes]
rs4583941	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4706606	0.81[EUR][1000 genomes]
rs4706607	0.81[EUR][1000 genomes]
rs4706618	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4708234	0.81[EUR][1000 genomes]
rs4708235	0.81[EUR][1000 genomes]
rs4708236	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4708267	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5009482	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62430437	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6453899	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6453900	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6903382	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6907510	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6908025	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6918707	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6924853	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6928036	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6928328	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7754981	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs867868	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs923553	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9341581	0.80[EUR][1000 genomes]
rs9343382	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9343441	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9343442	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9350626	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9350655	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9350660	0.91[EUR][1000 genomes]
rs9352276	0.81[EUR][1000 genomes]
rs9352277	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9352278	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9352325	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9352336	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9359202	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9361057	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9443242	0.92[EUR][1000 genomes]
rs9447697	0.92[EUR][1000 genomes]
rs9447698	0.92[EUR][1000 genomes]
rs990578	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533296	chr2:213925872-214645388	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv1801673	chr2:214027353-214365853	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv428071	chr2:214027353-214365853	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv834531	chr2:214115624-214302243	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv875820	chr2:214126478-214280050	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1014793	chr2:214177115-214305716	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv875821	chr2:214183769-214346396	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv875822	chr2:214183769-214346396	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv1795344	chr2:214191277-214365853	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv1829778	chr2:214191277-214365853	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	esv1842951	chr2:214191277-214365853	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv834532	chr2:214191277-214365853	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv428406	chr2:214191277-214365853	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	nsv523669	chr2:214214297-214226585	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	inside rSNPs	diseases
15	esv3692760	chr2:214214297-214231045	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases
16	nsv997332	chr2:214216056-214343089	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:214195400-214232800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:214203800-214229200	Weak transcription	Pancreas	Pancrea
3	chr2:214208400-214233000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:214219000-214229200	Weak transcription	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links