Variant report

Variant	rs55648350
Chromosome Location	chr14:66054778-66054779
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 124 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs10083328	1.00[ASN][1000 genomes]
rs10131727	0.82[EUR][1000 genomes]
rs10138701	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10151521	1.00[ASN][1000 genomes]
rs10483783	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11844089	1.00[ASN][1000 genomes]
rs11844728	1.00[ASN][1000 genomes]
rs11845391	1.00[ASN][1000 genomes]
rs11846196	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11846827	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11846860	1.00[ASN][1000 genomes]
rs11848647	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11849408	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11851934	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11852179	1.00[ASN][1000 genomes]
rs12436381	0.82[EUR][1000 genomes]
rs17102714	1.00[ASN][1000 genomes]
rs17102760	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17102783	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17102807	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17102845	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17779210	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28402125	1.00[ASN][1000 genomes]
rs28583930	1.00[ASN][1000 genomes]
rs28666667	1.00[ASN][1000 genomes]
rs4343192	1.00[ASN][1000 genomes]
rs55760239	1.00[ASN][1000 genomes]
rs55793205	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55853120	1.00[ASN][1000 genomes]
rs55948453	1.00[ASN][1000 genomes]
rs56024518	1.00[ASN][1000 genomes]
rs56165076	1.00[ASN][1000 genomes]
rs56191137	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56192128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56311314	1.00[ASN][1000 genomes]
rs56682283	1.00[ASN][1000 genomes]
rs61987767	1.00[ASN][1000 genomes]
rs61987768	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61987770	1.00[ASN][1000 genomes]
rs61987773	1.00[ASN][1000 genomes]
rs61987775	1.00[ASN][1000 genomes]
rs61987776	1.00[ASN][1000 genomes]
rs61987779	1.00[ASN][1000 genomes]
rs61987781	1.00[ASN][1000 genomes]
rs61987809	1.00[ASN][1000 genomes]
rs61987811	1.00[ASN][1000 genomes]
rs61987812	1.00[ASN][1000 genomes]
rs61987814	1.00[ASN][1000 genomes]
rs61987815	1.00[ASN][1000 genomes]
rs61987821	1.00[ASN][1000 genomes]
rs61987981	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987982	1.00[ASN][1000 genomes]
rs61987985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987987	1.00[ASN][1000 genomes]
rs61987988	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987989	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987991	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987995	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987996	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61988015	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61988016	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61988017	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61988019	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61988020	1.00[ASN][1000 genomes]
rs61988021	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61988022	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61988973	1.00[ASN][1000 genomes]
rs61988979	1.00[ASN][1000 genomes]
rs61988980	1.00[ASN][1000 genomes]
rs61988981	1.00[ASN][1000 genomes]
rs61988982	1.00[ASN][1000 genomes]
rs61988983	1.00[ASN][1000 genomes]
rs61988984	1.00[ASN][1000 genomes]
rs61988987	1.00[ASN][1000 genomes]
rs61988988	1.00[ASN][1000 genomes]
rs61988989	1.00[ASN][1000 genomes]
rs61988990	1.00[ASN][1000 genomes]
rs61988991	1.00[ASN][1000 genomes]
rs61988992	1.00[ASN][1000 genomes]
rs61988993	1.00[ASN][1000 genomes]
rs61989969	1.00[ASN][1000 genomes]
rs61989970	1.00[ASN][1000 genomes]
rs61989971	1.00[ASN][1000 genomes]
rs61989973	1.00[ASN][1000 genomes]
rs61989974	1.00[ASN][1000 genomes]
rs61989975	1.00[ASN][1000 genomes]
rs61989977	1.00[ASN][1000 genomes]
rs61989993	1.00[ASN][1000 genomes]
rs61989998	1.00[ASN][1000 genomes]
rs61990000	1.00[ASN][1000 genomes]
rs61990023	1.00[ASN][1000 genomes]
rs61990026	1.00[ASN][1000 genomes]
rs61990027	1.00[ASN][1000 genomes]
rs6573620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7143112	1.00[ASN][1000 genomes]
rs7143525	1.00[ASN][1000 genomes]
rs7144234	1.00[ASN][1000 genomes]
rs7148883	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7148899	1.00[ASN][1000 genomes]
rs7150782	1.00[ASN][1000 genomes]
rs7153718	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154526	1.00[ASN][1000 genomes]
rs7154876	1.00[ASN][1000 genomes]
rs7155055	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7156029	1.00[ASN][1000 genomes]
rs7159582	1.00[ASN][1000 genomes]
rs73268558	1.00[ASN][1000 genomes]
rs7342545	1.00[ASN][1000 genomes]
rs8003093	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8004852	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8005892	1.00[ASN][1000 genomes]
rs8008705	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8013098	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8018695	1.00[ASN][1000 genomes]
rs8019214	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs927005	1.00[ASN][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	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	nsv832819	chr14:65957949-66106019	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	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
8	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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65995400-66061000	Weak transcription	Gastric	stomach
2	chr14:66032000-66060200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr14:66032600-66060800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr14:66035800-66054800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr14:66035800-66057400	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr14:66039800-66058000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr14:66039800-66061200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr14:66041000-66059000	Weak transcription	Primary B cells from peripheral blood	blood
9	chr14:66041000-66060800	Weak transcription	Dnd41	blood
10	chr14:66041200-66060800	Weak transcription	GM12878-XiMat	blood
11	chr14:66041200-66061000	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr14:66043800-66061000	Weak transcription	Fetal Intestine Small	intestine
13	chr14:66049800-66060800	Weak transcription	Primary B cells from cord blood	blood
14	chr14:66052400-66061000	Weak transcription	Stomach Mucosa	stomach
15	chr14:66053200-66055000	Enhancers	HUVEC	blood vessel
16	chr14:66054200-66055000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr14:66054400-66054800	Enhancers	Primary T cells from cord blood	blood
18	chr14:66054400-66054800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr14:66054400-66055000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr14:66054400-66055400	Enhancers	Liver	Liver
21	chr14:66054400-66055400	Enhancers	HepG2	liver
22	chr14:66054400-66055800	Enhancers	Duodenum Smooth Muscle	Duodenum

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