Variant report

Variant	rs11766788
Chromosome Location	chr7:123992361-123992362
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr7:123991993-123992412	SH-SY5Y	brain:	n/a	n/a
2	YY1	chr7:123992077-123992468	H1-hESC	embryonic stem cell:	n/a	chr7:123992262-123992272 chr7:123992261-123992273

Variant related genes	Relation type
ENSG00000241324	TF binding region

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10280238	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11766084	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11772923	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12535441	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12535600	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12539457	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12706597	0.96[ASN][1000 genomes]
rs17146991	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17146999	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17147004	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17147014	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2190114	0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2301932	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2402711	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2402715	0.96[ASN][1000 genomes]
rs28651485	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4617080	0.83[CHB][hapmap]
rs59959240	0.86[AMR][1000 genomes]
rs62472485	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62472488	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62472489	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62472490	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62472491	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62473426	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62473429	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62474381	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62474382	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62474387	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62474388	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62474389	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6958512	0.81[JPT][hapmap]
rs7805182	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608338	chr7:123787673-124063498	Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv1818748	chr7:123829886-124039708	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv889127	chr7:123869567-123994631	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv889129	chr7:123875796-123994631	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv889130	chr7:123875796-124010036	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv889131	chr7:123875796-124037765	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv889132	chr7:123883427-124010036	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv1817026	chr7:123885477-124039708	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv1844271	chr7:123885477-124039708	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	esv1795113	chr7:123885477-124188665	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv608339	chr7:123930549-123994631	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
13	esv1796212	chr7:123957376-124039708	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	esv1811517	chr7:123957376-124039708	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	esv1821367	chr7:123957376-124039708	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	esv1828023	chr7:123957376-124039708	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	esv1848863	chr7:123957376-124039708	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	nsv427804	chr7:123957376-124039708	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	nsv428185	chr7:123957376-124039708	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
20	nsv831117	chr7:123957376-124089186	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
21	esv1808414	chr7:123957376-124188665	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:123991400-123995400	Enhancers	Fetal Brain Male	brain
2	chr7:123991600-123992600	Enhancers	Fetal Heart	heart
3	chr7:123991800-123994600	Enhancers	Fetal Brain Female	brain
4	chr7:123992000-123992400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:123992000-123992400	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr7:123992000-123992400	Flanking Active TSS	Brain Anterior Caudate	brain
7	chr7:123992000-123992400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr7:123992000-123992600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:123992000-123992600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:123992000-123992600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr7:123992200-123992400	Flanking Active TSS	Brain Angular Gyrus	brain
12	chr7:123992200-123992400	Flanking Active TSS	Brain Cingulate Gyrus	brain
13	chr7:123992200-123992400	Flanking Active TSS	Right Ventricle	heart
14	chr7:123992200-123992600	Enhancers	Brain Hippocampus Middle	brain
15	chr7:123992200-123992600	Enhancers	Brain Substantia Nigra	brain

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