Variant report

Variant	rs3114753
Chromosome Location	chr7:109463560-109463561
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10229666	0.83[ASN][1000 genomes]
rs10274990	0.80[ASN][1000 genomes]
rs17467218	0.82[ASN][1000 genomes]
rs1949799	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3114754	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730401	0.81[ASN][1000 genomes]
rs4730402	0.81[ASN][1000 genomes]
rs59055296	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62478945	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62480273	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6947394	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6949632	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6961373	0.80[ASN][1000 genomes]
rs7797225	0.82[ASN][1000 genomes]
rs7797470	0.81[EUR][1000 genomes];0.82[ASN][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	nsv608079	chr7:109098364-109862289	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1015383	chr7:109315812-109585662	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv532177	chr7:109319033-110123840	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv888951	chr7:109345821-109465038	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv429795	chr7:109349049-109572049	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv5896	chr7:109398684-109473041	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv2758614	chr7:109409980-109607619	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv2759552	chr7:109409980-109607619	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv531405	chr7:109419044-109958007	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	esv1808374	chr7:109425021-109487291	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv1807249	chr7:109441465-109477177	ZNF genes & repeats Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv1032021	chr7:109441617-109495240	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv1020623	chr7:109451842-109567466	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv1023428	chr7:109451842-110185072	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	nsv1034466	chr7:109453898-109469840	ZNF genes & repeats Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv967506	chr7:109456975-109465016	Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
17	esv1849010	chr7:109459967-109644867	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:109463000-109463600	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr7:109463200-109463600	Enhancers	HUES48 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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