Variant report

Variant	rs7143112
Chromosome Location	chr14:65996619-65996620
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr14:65996166-65996888	GM12878	blood:	n/a	n/a
2	NFIC	chr14:65996390-65996813	GM12878	blood:	n/a	n/a
3	BATF	chr14:65996489-65996739	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
EIF1AXP2	TF binding region

Extended variants
information (count: 118 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs10131727	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[EUR][1000 genomes]
rs10135541	1.00[ASN][1000 genomes]
rs10138701	1.00[GIH][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11844089	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11844728	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11845391	1.00[ASN][1000 genomes]
rs11846196	1.00[ASN][1000 genomes]
rs11846827	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11846860	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11848647	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11849408	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11849792	1.00[CEU][hapmap];0.83[GIH][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap]
rs11851934	1.00[ASN][1000 genomes]
rs11852179	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12436381	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs17102714	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17102760	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17102783	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs17102807	1.00[ASN][1000 genomes]
rs17102845	1.00[ASN][1000 genomes]
rs17779210	1.00[ASN][1000 genomes]
rs2153482	1.00[ASN][1000 genomes]
rs4343192	1.00[ASN][1000 genomes]
rs55648350	1.00[ASN][1000 genomes]
rs55714222	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55780087	1.00[ASN][1000 genomes]
rs55793205	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55917158	1.00[ASN][1000 genomes]
rs55948453	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56158541	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56191137	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56192128	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56348725	1.00[ASN][1000 genomes]
rs56682283	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987767	1.00[ASN][1000 genomes]
rs61987768	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]
rs61987981	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987982	1.00[ASN][1000 genomes]
rs61987985	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987987	1.00[ASN][1000 genomes]
rs61987988	1.00[ASN][1000 genomes]
rs61987989	1.00[ASN][1000 genomes]
rs61987991	1.00[ASN][1000 genomes]
rs61987995	1.00[ASN][1000 genomes]
rs61987996	1.00[ASN][1000 genomes]
rs61988015	1.00[ASN][1000 genomes]
rs61988016	1.00[ASN][1000 genomes]
rs61988017	1.00[ASN][1000 genomes]
rs61988019	1.00[ASN][1000 genomes]
rs61988020	1.00[ASN][1000 genomes]
rs61988021	1.00[ASN][1000 genomes]
rs61988022	1.00[ASN][1000 genomes]
rs61989027	1.00[ASN][1000 genomes]
rs61989030	1.00[ASN][1000 genomes]
rs61989032	1.00[ASN][1000 genomes]
rs61989036	1.00[ASN][1000 genomes]
rs61989057	1.00[ASN][1000 genomes]
rs61989059	1.00[ASN][1000 genomes]
rs61989961	1.00[ASN][1000 genomes]
rs61989962	1.00[ASN][1000 genomes]
rs61989963	1.00[ASN][1000 genomes]
rs61989964	1.00[ASN][1000 genomes]
rs61989969	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61989970	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61989971	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61989973	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61989974	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61989975	1.00[ASN][1000 genomes]
rs61989977	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61989993	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61989998	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990000	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990002	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61990023	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990026	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990027	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573606	1.00[ASN][1000 genomes]
rs6573620	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7143525	1.00[ASN][1000 genomes]
rs7144234	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs7148883	1.00[ASN][1000 genomes]
rs7150782	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7153718	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154526	1.00[ASN][1000 genomes]
rs7154876	1.00[ASN][1000 genomes]
rs7155055	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7156029	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7159582	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7160754	1.00[CEU][hapmap]
rs73268558	1.00[ASN][1000 genomes]
rs7342545	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs746835	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs747540	1.00[CHB][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs8003093	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8004507	1.00[ASN][1000 genomes]
rs8004852	1.00[ASN][1000 genomes]
rs8005892	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8008705	1.00[ASN][1000 genomes]
rs8013098	1.00[ASN][1000 genomes]
rs8013585	1.00[ASN][1000 genomes]
rs8018695	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8019214	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs997794	1.00[CEU][hapmap]

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	nsv456327	chr14:65955517-66052901	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv564951	chr14:65955517-66052901	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	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

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65981400-65996800	Weak transcription	Small Intestine	intestine
2	chr14:65984800-66003000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr14:65985000-66025200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr14:65995200-66028000	Weak transcription	Dnd41	blood
5	chr14:65995400-65997200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr14:65995400-65997600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr14:65995400-65998400	Weak transcription	Brain Hippocampus Middle	brain
8	chr14:65995400-65998400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr14:65995400-65998800	Weak transcription	Ovary	ovary
10	chr14:65995400-66004600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:65995400-66004600	Weak transcription	Pancreas	Pancrea
12	chr14:65995400-66004600	Weak transcription	Thymus	Thymus
13	chr14:65995400-66006600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr14:65995400-66061000	Weak transcription	Gastric	stomach
15	chr14:65995600-65997200	ZNF genes & repeats	GM12878-XiMat	blood
16	chr14:65996000-65999000	Enhancers	Primary B cells from peripheral blood	blood
17	chr14:65996400-65997800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr14:65996400-66004200	Weak transcription	Fetal Stomach	stomach

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