Variant report

Variant	rs2246944
Chromosome Location	chr15:55132409-55132410
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11071131	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12591103	0.91[ASN][1000 genomes]
rs12593404	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs1501379	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs1813885	0.83[ASN][1000 genomes]
rs1949577	0.95[ASN][1000 genomes]
rs1949578	0.95[ASN][1000 genomes]
rs2047680	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2173871	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2651740	0.85[ASN][1000 genomes]
rs2681991	0.91[ASN][1000 genomes]
rs2695651	0.92[ASN][1000 genomes]
rs2695652	0.95[ASN][1000 genomes]
rs2721128	0.94[ASN][1000 genomes]
rs2721129	0.93[ASN][1000 genomes]
rs72734120	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8041529	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs924549	0.89[ASN][1000 genomes]
rs950468	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833013	chr15:54927825-55135274	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv1035785	chr15:54951691-55266222	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv542390	chr15:54951691-55266222	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1039860	chr15:55010228-55198111	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1043176	chr15:55010228-55563000	Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv1042741	chr15:55068022-55622497	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv525041	chr15:55068209-55136755	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1047424	chr15:55098585-55243518	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv833014	chr15:55099183-55249491	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1046155	chr15:55123603-55137606	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
11	nsv1039749	chr15:55128287-55178353	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv1036047	chr15:55128287-55182824	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv16456	chr15:55129551-55137977	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
14	esv2760387	chr15:55129972-55137606	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
15	esv2421598	chr15:55129972-55137888	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
16	nsv1045127	chr15:55129972-55140560	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
17	nsv516656	chr15:55131283-55136755	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55131200-55133200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr15:55131200-55133200	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr15:55131800-55132800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr15:55131800-55133200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr15:55132000-55133200	Enhancers	H9 Cell Line	embryonic stem cell
6	chr15:55132000-55133200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr15:55132400-55132800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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