Variant report

Variant	rs12432422
Chromosome Location	chr14:66219694-66219695
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs10083328	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10130526	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10131727	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10143920	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10149311	0.81[ASN][1000 genomes]
rs10151521	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11845391	0.87[EUR][1000 genomes]
rs11846051	0.87[EUR][1000 genomes]
rs11846827	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs11847101	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11849249	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11849408	1.00[CEU][hapmap]
rs11849792	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12431772	0.88[JPT][hapmap];0.94[ASN][1000 genomes]
rs12432032	1.00[JPT][hapmap]
rs12432550	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12434375	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12434626	0.83[ASN][1000 genomes]
rs12435769	0.94[ASN][1000 genomes]
rs12435809	0.87[ASN][1000 genomes]
rs12435971	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12436349	1.00[JPT][hapmap]
rs12436381	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12436402	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12436482	1.00[JPT][hapmap]
rs12436677	0.87[ASN][1000 genomes]
rs12436771	1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12437088	1.00[JPT][hapmap]
rs17102783	1.00[CEU][hapmap]
rs17102839	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17102845	0.85[EUR][1000 genomes]
rs17102854	0.94[ASN][1000 genomes]
rs17102894	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17102898	1.00[CEU][hapmap];0.88[CHB][hapmap];0.89[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17102910	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17246385	0.87[ASN][1000 genomes]
rs17246441	0.98[ASN][1000 genomes]
rs17246504	0.85[ASN][1000 genomes]
rs17246532	0.94[ASN][1000 genomes]
rs17826892	0.98[ASN][1000 genomes]
rs17826946	0.98[ASN][1000 genomes]
rs17826952	0.98[ASN][1000 genomes]
rs1952605	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2073295	0.98[ASN][1000 genomes]
rs2268965	1.00[CEU][hapmap];0.88[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2295360	0.85[ASN][1000 genomes]
rs2300863	0.92[ASN][1000 genomes]
rs2300866	0.92[ASN][1000 genomes]
rs2300870	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs28402125	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28489447	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28496380	0.94[ASN][1000 genomes]
rs28583930	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28666667	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2898701	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4343192	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs55853120	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56182635	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58087042	0.83[ASN][1000 genomes]
rs59036531	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61417186	0.83[ASN][1000 genomes]
rs61987768	0.87[EUR][1000 genomes]
rs61987770	0.87[EUR][1000 genomes]
rs61987773	0.87[EUR][1000 genomes]
rs61987776	0.87[EUR][1000 genomes]
rs61987778	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987779	0.87[EUR][1000 genomes]
rs61987781	0.87[EUR][1000 genomes]
rs61987809	0.90[EUR][1000 genomes]
rs61987810	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61987811	0.87[EUR][1000 genomes]
rs61987812	0.90[EUR][1000 genomes]
rs61987814	0.88[EUR][1000 genomes]
rs61987815	0.90[EUR][1000 genomes]
rs61987821	0.80[EUR][1000 genomes]
rs61988019	0.83[EUR][1000 genomes]
rs61988021	0.87[EUR][1000 genomes]
rs61988022	0.87[EUR][1000 genomes]
rs6573620	1.00[CEU][hapmap]
rs7143525	0.87[EUR][1000 genomes]
rs7144234	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs7148883	0.87[EUR][1000 genomes]
rs7153718	1.00[CEU][hapmap]
rs7154526	0.87[EUR][1000 genomes]
rs7154876	0.87[EUR][1000 genomes]
rs7155055	1.00[CEU][hapmap]
rs7155169	0.85[EUR][1000 genomes]
rs730127	1.00[CEU][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7342545	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs74056820	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs74056844	0.81[ASN][1000 genomes]
rs74056845	0.81[ASN][1000 genomes]
rs74058525	0.83[ASN][1000 genomes]
rs74058541	0.83[ASN][1000 genomes]
rs74058560	0.94[ASN][1000 genomes]
rs74058562	0.94[ASN][1000 genomes]
rs8004564	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs8004852	0.87[EUR][1000 genomes]
rs8019214	1.00[CEU][hapmap]
rs927005	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs956582	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs997794	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats 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 miRNA	55 gene(s)	inside rSNPs	diseases
2	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
3	nsv1039168	chr14:65811750-66308343	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
4	esv3366524	chr14:65924360-66423862	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
5	nsv1045000	chr14:66010886-66372518	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1042671	chr14:66010886-66399888	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66215600-66239800	Weak transcription	Primary T cells from cord blood	blood
2	chr14:66217400-66220200	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr14:66217400-66221000	Enhancers	Fetal Intestine Small	intestine
4	chr14:66217800-66220400	Enhancers	Rectal Mucosa Donor 29	rectum
5	chr14:66218000-66221000	Enhancers	Fetal Intestine Large	intestine
6	chr14:66218400-66220200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr14:66219200-66219800	Enhancers	Small Intestine	intestine
8	chr14:66219200-66220200	Enhancers	Duodenum Mucosa	Duodenum
9	chr14:66219200-66220600	Enhancers	Stomach Mucosa	stomach
10	chr14:66219600-66220000	Weak transcription	Colonic Mucosa	Colon
11	chr14:66219600-66220400	Flanking Active TSS	HepG2	liver

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