Variant report

Variant	rs17648002
Chromosome Location	chr7:12104618-12104619
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10227694	0.84[EUR][1000 genomes]
rs10236430	0.84[EUR][1000 genomes]
rs10271169	0.84[EUR][1000 genomes]
rs1035147	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10488206	0.90[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs17581309	0.85[AFR][1000 genomes]
rs17581371	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17581713	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17647943	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs60330672	0.90[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs61387470	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6977621	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73285107	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73285109	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73285110	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7783906	0.84[EUR][1000 genomes]
rs7784346	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv887614	chr7:11778424-12211198	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv2758103	chr7:11927239-12109419	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv2759510	chr7:11927239-12109419	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv830906	chr7:12001764-12177869	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1023608	chr7:12064114-12247520	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12103800-12108200	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr7:12104000-12104800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr7:12104200-12104800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr7:12104200-12105000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr7:12104200-12105000	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr7:12104200-12105000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:12104200-12105000	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr7:12104200-12105000	Enhancers	Stomach Mucosa	stomach
9	chr7:12104400-12104800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr7:12104600-12107000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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