Variant report

Variant	rs1342143
Chromosome Location	chr10:43346131-43346132
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 179 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:166)

rs_ID	r²[population]
rs1085783	1.00[ASN][1000 genomes]
rs1091925	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1625947	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17158174	0.92[LWK][hapmap]
rs17158193	0.90[CEU][hapmap];1.00[ASN][1000 genomes]
rs17159047	0.90[CEU][hapmap];1.00[ASN][1000 genomes]
rs17159071	0.90[CEU][hapmap]
rs17159198	0.90[CEU][hapmap]
rs17344904	0.90[CEU][hapmap];1.00[ASN][1000 genomes]
rs17344997	0.90[CEU][hapmap];1.00[ASN][1000 genomes]
rs17345889	0.90[CEU][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs17347902	1.00[ASN][1000 genomes]
rs17347944	1.00[ASN][1000 genomes]
rs17429275	0.90[CEU][hapmap];1.00[ASN][1000 genomes]
rs17429415	0.90[CEU][hapmap];1.00[ASN][1000 genomes]
rs17430796	1.00[ASN][1000 genomes]
rs17431976	1.00[ASN][1000 genomes]
rs17432011	1.00[ASN][1000 genomes]
rs17432429	1.00[ASN][1000 genomes]
rs17432532	1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs17432714	1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs17432763	0.83[GIH][hapmap]
rs1775069	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1935644	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2051043	1.00[ASN][1000 genomes]
rs2078397	1.00[ASW][hapmap];0.90[CEU][hapmap];0.85[LWK][hapmap];1.00[ASN][1000 genomes]
rs2744082	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2795505	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2796563	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2796565	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2796567	0.84[AFR][1000 genomes]
rs3026692	1.00[GIH][hapmap]
rs41295810	1.00[ASN][1000 genomes]
rs41295811	1.00[ASN][1000 genomes]
rs41295813	1.00[ASN][1000 genomes]
rs515365	1.00[ASN][1000 genomes]
rs61736599	1.00[ASN][1000 genomes]
rs61843172	1.00[ASN][1000 genomes]
rs61843173	1.00[ASN][1000 genomes]
rs61843174	1.00[ASN][1000 genomes]
rs61843175	1.00[ASN][1000 genomes]
rs61843176	1.00[ASN][1000 genomes]
rs61843177	1.00[ASN][1000 genomes]
rs61843178	1.00[ASN][1000 genomes]
rs61843179	1.00[ASN][1000 genomes]
rs61843180	1.00[ASN][1000 genomes]
rs61843181	1.00[ASN][1000 genomes]
rs61843182	1.00[ASN][1000 genomes]
rs61843183	1.00[ASN][1000 genomes]
rs61843184	1.00[ASN][1000 genomes]
rs61843185	1.00[ASN][1000 genomes]
rs61843186	1.00[ASN][1000 genomes]
rs61843187	1.00[ASN][1000 genomes]
rs61843188	1.00[ASN][1000 genomes]
rs61843368	0.85[EUR][1000 genomes]
rs61843371	0.83[EUR][1000 genomes]
rs61843372	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61843373	1.00[ASN][1000 genomes]
rs61843374	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61843380	1.00[ASN][1000 genomes]
rs61843381	1.00[ASN][1000 genomes]
rs61843382	1.00[ASN][1000 genomes]
rs61843407	1.00[ASN][1000 genomes]
rs61843419	1.00[ASN][1000 genomes]
rs61843420	1.00[ASN][1000 genomes]
rs61843422	1.00[ASN][1000 genomes]
rs61843437	1.00[ASN][1000 genomes]
rs61843438	1.00[ASN][1000 genomes]
rs61843457	1.00[ASN][1000 genomes]
rs61843459	1.00[ASN][1000 genomes]
rs61843955	1.00[ASN][1000 genomes]
rs61843956	1.00[ASN][1000 genomes]
rs61843958	1.00[ASN][1000 genomes]
rs61843959	1.00[ASN][1000 genomes]
rs61844760	1.00[ASN][1000 genomes]
rs61844763	1.00[ASN][1000 genomes]
rs61844765	1.00[ASN][1000 genomes]
rs61844768	1.00[ASN][1000 genomes]
rs61844770	1.00[ASN][1000 genomes]
rs61844771	1.00[ASN][1000 genomes]
rs61844772	1.00[ASN][1000 genomes]
rs61844774	1.00[ASN][1000 genomes]
rs61844775	1.00[ASN][1000 genomes]
rs61844813	1.00[ASN][1000 genomes]
rs61844815	1.00[ASN][1000 genomes]
rs61844816	1.00[ASN][1000 genomes]
rs61844817	1.00[ASN][1000 genomes]
rs61844821	1.00[ASN][1000 genomes]
rs61844827	1.00[ASN][1000 genomes]
rs61844828	1.00[ASN][1000 genomes]
rs61844829	1.00[ASN][1000 genomes]
rs61844832	1.00[ASN][1000 genomes]
rs61844835	1.00[ASN][1000 genomes]
rs61844837	1.00[ASN][1000 genomes]
rs61844848	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61844849	1.00[ASN][1000 genomes]
rs61844854	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61845260	1.00[ASN][1000 genomes]
rs61845261	1.00[ASN][1000 genomes]
rs61845262	1.00[ASN][1000 genomes]
rs61845264	1.00[ASN][1000 genomes]
rs61845265	1.00[ASN][1000 genomes]
rs61845266	1.00[ASN][1000 genomes]
rs61845268	1.00[ASN][1000 genomes]
rs61845269	1.00[ASN][1000 genomes]
rs61845270	1.00[ASN][1000 genomes]
rs61845271	1.00[ASN][1000 genomes]
rs61845272	1.00[ASN][1000 genomes]
rs61845273	1.00[ASN][1000 genomes]
rs61845274	1.00[ASN][1000 genomes]
rs61845279	1.00[ASN][1000 genomes]
rs61845280	1.00[ASN][1000 genomes]
rs61845281	1.00[ASN][1000 genomes]
rs61845282	1.00[ASN][1000 genomes]
rs61845306	1.00[ASN][1000 genomes]
rs61845307	1.00[ASN][1000 genomes]
rs61845308	1.00[ASN][1000 genomes]
rs61845309	1.00[ASN][1000 genomes]
rs61845310	1.00[ASN][1000 genomes]
rs61845311	1.00[ASN][1000 genomes]
rs61845312	1.00[ASN][1000 genomes]
rs61845314	1.00[ASN][1000 genomes]
rs61845315	1.00[ASN][1000 genomes]
rs61845316	1.00[ASN][1000 genomes]
rs61845317	1.00[ASN][1000 genomes]
rs61845318	1.00[ASN][1000 genomes]
rs61845320	1.00[ASN][1000 genomes]
rs61845321	1.00[ASN][1000 genomes]
rs61845323	1.00[ASN][1000 genomes]
rs61845324	1.00[ASN][1000 genomes]
rs61845325	1.00[ASN][1000 genomes]
rs61845326	1.00[ASN][1000 genomes]
rs61845327	1.00[ASN][1000 genomes]
rs61845328	1.00[ASN][1000 genomes]
rs61845329	1.00[ASN][1000 genomes]
rs61845330	1.00[ASN][1000 genomes]
rs61845331	1.00[ASN][1000 genomes]
rs61845332	1.00[ASN][1000 genomes]
rs61845333	1.00[ASN][1000 genomes]
rs61845335	1.00[ASN][1000 genomes]
rs61845336	1.00[ASN][1000 genomes]
rs61845338	1.00[ASN][1000 genomes]
rs61845339	1.00[ASN][1000 genomes]
rs61845340	1.00[ASN][1000 genomes]
rs61845341	1.00[ASN][1000 genomes]
rs61845342	1.00[ASN][1000 genomes]
rs61845343	1.00[ASN][1000 genomes]
rs61845345	1.00[ASN][1000 genomes]
rs61845346	1.00[ASN][1000 genomes]
rs61845963	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61845964	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs638507	1.00[ASN][1000 genomes]
rs7074380	1.00[ASN][1000 genomes]
rs7089165	1.00[ASN][1000 genomes]
rs7091439	0.90[CEU][hapmap];1.00[ASN][1000 genomes]
rs7097557	1.00[ASN][1000 genomes]
rs7100455	1.00[ASN][1000 genomes]
rs74135429	1.00[ASN][1000 genomes]
rs788248	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs788250	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs788286	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs788294	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7904220	1.00[ASN][1000 genomes]
rs7908539	0.90[CEU][hapmap];1.00[ASN][1000 genomes]
rs7915796	1.00[ASN][1000 genomes]
rs7923121	0.86[CEU][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv550672	chr10:42753190-43441729	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv533331	chr10:42830221-43356410	ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1042764	chr10:42846383-43511712	Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv1050394	chr10:42890663-43604956	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv540573	chr10:42890663-43604956	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
6	nsv534548	chr10:42890664-43729688	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
7	esv2758216	chr10:42965131-43510191	Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
8	esv2759746	chr10:42965131-43510191	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
9	esv2757381	chr10:43104068-43352995	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	nsv1047838	chr10:43234590-43379219	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
11	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
12	esv14695	chr10:43301539-43355457	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
13	nsv8627	chr10:43324929-43354934	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island miRNA target site	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1342143	LOC338579	cis	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43345600-43347600	Enhancers	HMEC	breast
2	chr10:43345800-43346400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr10:43345800-43346400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr10:43345800-43347400	Enhancers	NHEK	skin
5	chr10:43345800-43347600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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