Variant report

Variant	rs7780299
Chromosome Location	chr7:48431762-48431763
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11983883	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1433517	0.93[EUR][1000 genomes]
rs1433518	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1433519	0.93[EUR][1000 genomes]
rs17132286	0.85[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs17132295	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17661898	0.97[EUR][1000 genomes]
rs17661929	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17712791	0.93[EUR][1000 genomes]
rs2117090	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34996049	0.93[EUR][1000 genomes]
rs4437599	0.81[EUR][1000 genomes]
rs4917118	0.89[AFR][1000 genomes]
rs55869793	0.84[EUR][1000 genomes]
rs67033930	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6946995	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6955132	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6966454	0.81[ASN][1000 genomes]
rs6974064	0.88[EUR][1000 genomes]
rs73097201	0.81[EUR][1000 genomes]
rs73099309	0.93[EUR][1000 genomes]
rs73099311	0.93[EUR][1000 genomes]
rs73099316	0.81[EUR][1000 genomes]
rs73099324	0.82[EUR][1000 genomes]
rs7780112	0.93[EUR][1000 genomes]
rs7803797	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[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	nsv1027414	chr7:48117684-48438543	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv817336	chr7:48238233-48563988	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1022980	chr7:48243227-48567060	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv538833	chr7:48243227-48567060	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1022578	chr7:48244414-48584664	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1023575	chr7:48244414-48586685	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1015183	chr7:48244414-48588598	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1032221	chr7:48302789-48546684	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv533811	chr7:48313757-48482470	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv1015399	chr7:48321542-48544359	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv5733	chr7:48387046-48434029	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
12	esv2761325	chr7:48409639-48557382	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48413200-48432600	Weak transcription	Spleen	Spleen
2	chr7:48428600-48432800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr7:48429600-48431800	Enhancers	Fetal Thymus	thymus
4	chr7:48429600-48431800	Enhancers	Dnd41	blood
5	chr7:48430600-48432000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr7:48430600-48433800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr7:48431000-48431800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:48431200-48432000	Enhancers	Primary hematopoietic stem cells	blood
9	chr7:48431200-48432800	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr7:48431200-48433800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr7:48431400-48431800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr7:48431400-48434600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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