Variant report

Variant	rs3106418
Chromosome Location	chr13:63700241-63700242
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1097374	1.00[ASN][1000 genomes]
rs1333457	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1512877	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1604877	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs182444	0.93[ASN][1000 genomes]
rs188481	0.94[ASN][1000 genomes]
rs1913174	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs298763	1.00[ASN][1000 genomes]
rs298765	1.00[ASN][1000 genomes]
rs298766	1.00[ASN][1000 genomes]
rs298776	0.93[ASN][1000 genomes]
rs298781	1.00[ASN][1000 genomes]
rs298782	0.88[ASN][1000 genomes]
rs298784	1.00[ASN][1000 genomes]
rs298788	1.00[ASN][1000 genomes]
rs298789	1.00[ASN][1000 genomes]
rs298790	1.00[ASN][1000 genomes]
rs298848	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs298852	1.00[ASN][1000 genomes]
rs298853	1.00[ASN][1000 genomes]
rs298855	1.00[ASN][1000 genomes]
rs298870	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs298871	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs298875	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs298876	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs298880	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs298881	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs298883	0.80[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs298884	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs298886	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs298892	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs298894	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs298895	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs298898	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs298899	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3012179	1.00[ASN][1000 genomes]
rs3095589	0.93[ASN][1000 genomes]
rs3095590	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3106412	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3106417	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3106423	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3119942	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3119944	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3119947	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3119953	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3119954	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs404075	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs419967	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs435653	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs444576	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs478952	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs482669	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs494439	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs506703	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs539957	0.93[ASN][1000 genomes]
rs576321	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs613822	0.88[ASN][1000 genomes]
rs982160	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2759940	chr13:63199237-63721248	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv2753514	chr13:63221699-63959299	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv2757535	chr13:63281939-63721248	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1054643	chr13:63501148-63755650	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv900274	chr13:63511841-63864603	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv900275	chr13:63511841-63865669	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1039454	chr13:63545468-63826462	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv541798	chr13:63545468-63826462	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1045647	chr13:63545468-64082080	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv541799	chr13:63545468-64082080	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv900276	chr13:63638329-63784286	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv900277	chr13:63666149-63892905	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:63698800-63703400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:63699600-63701000	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr13:63699800-63700800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr13:63699800-63701800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr13:63699800-63701800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr13:63700000-63701600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr13:63700200-63701200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr13:63700200-63706600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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