Variant report

Variant	rs73616925
Chromosome Location	chr16:75894994-75894995
allele	G/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	POLR2A	chr16:75894355-75895014	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr16:75894309-75895042	H1-neurons	neurons:	n/a	n/a
3	REST	chr16:75894244-75895304	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
ENSG00000261313	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16943554	1.00[ASN][1000 genomes]
rs16943556	1.00[ASN][1000 genomes]
rs16943557	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17697421	1.00[ASN][1000 genomes]
rs17697457	1.00[ASN][1000 genomes]
rs17765032	1.00[ASN][1000 genomes]
rs17765038	1.00[ASN][1000 genomes]
rs17765044	1.00[ASN][1000 genomes]
rs17765068	1.00[ASN][1000 genomes]
rs4517822	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56127813	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56150607	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56412558	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57332187	1.00[ASN][1000 genomes]
rs60226211	0.90[ASN][1000 genomes]
rs7187408	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7187899	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73616928	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73616989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73616991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73616999	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73618804	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74024827	1.00[ASN][1000 genomes]
rs74024828	1.00[ASN][1000 genomes]
rs74024829	1.00[ASN][1000 genomes]
rs8046817	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532562	chr16:75614947-76371158	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1064880	chr16:75628562-75895699	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv542960	chr16:75628562-75895699	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv1064607	chr16:75787129-76449101	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv1065794	chr16:75792288-76434118	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv542961	chr16:75792288-76434118	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	esv3416058	chr16:75863360-76086224	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75894000-75895000	Enhancers	Fetal Stomach	stomach
2	chr16:75894200-75895000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr16:75894200-75895000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr16:75894200-75895200	Flanking Active TSS	Fetal Brain Female	brain
5	chr16:75894400-75895000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr16:75894400-75895000	Active TSS	Brain Angular Gyrus	brain
7	chr16:75894400-75895000	Active TSS	Brain Anterior Caudate	brain
8	chr16:75894400-75895000	Enhancers	Ovary	ovary
9	chr16:75894600-75895400	Active TSS	Brain Hippocampus Middle	brain
10	chr16:75894800-75895000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
11	chr16:75894800-75895200	Enhancers	Brain Germinal Matrix	brain
12	chr16:75894800-75895600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr16:75894800-75895600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr16:75894800-75895600	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr16:75894800-75895800	Enhancers	Brain Cingulate Gyrus	brain
16	chr16:75894800-75896200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr16:75894800-75896200	Enhancers	Brain Substantia Nigra	brain
18	chr16:75894800-75896200	Enhancers	Fetal Brain Male	brain
19	chr16:75894800-75901600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr16:75894800-75902000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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