Variant report

Variant	rs13415898
Chromosome Location	chr2:152953580-152953581
allele	A/C
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	GATA3	chr2:152953403-152954014	SH-SY5Y	brain:	n/a	n/a
2	KAP1	chr2:152953190-152954815	U2OS	brain:	n/a	n/a
3	CEBPB	chr2:152953395-152954116	Hela-S3	cervix:	n/a	chr2:152953840-152953849 chr2:152953840-152953851 chr2:152953838-152953851

Variant related genes	Relation type
ENSG00000225214	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10166701	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10181910	1.00[ASN][1000 genomes]
rs10188437	1.00[ASN][1000 genomes]
rs10190828	1.00[ASN][1000 genomes]
rs10202920	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10203589	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10209826	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12693278	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13382381	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13386095	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13390486	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13390828	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13394982	1.00[ASN][1000 genomes]
rs13408535	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13408915	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13416727	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13420003	1.00[ASN][1000 genomes]
rs28581765	1.00[ASN][1000 genomes]
rs35406869	1.00[ASN][1000 genomes]
rs58932175	1.00[ASN][1000 genomes]
rs59794582	1.00[ASN][1000 genomes]
rs6726207	1.00[ASN][1000 genomes]
rs6742020	1.00[ASN][1000 genomes]
rs6742139	1.00[ASN][1000 genomes]
rs6753703	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7590270	1.00[ASN][1000 genomes]
rs7600978	1.00[ASN][1000 genomes]
rs7604840	1.00[ASN][1000 genomes]
rs9288079	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	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv3693431	chr2:152683731-152981827	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv875287	chr2:152714680-153110573	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer 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
5	nsv875288	chr2:152716628-153183646	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Flanking Active TSS 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	21 gene(s)	inside rSNPs	diseases
6	nsv875289	chr2:152720030-153183646	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	esv1847028	chr2:152863856-153045036	Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 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	chr2:152948200-152953600	Weak transcription	Fetal Brain Female	brain
2	chr2:152950400-152953800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:152950800-152953800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:152951800-152953800	Weak transcription	GM12878-XiMat	blood
5	chr2:152952000-152953600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:152952000-152954000	Weak transcription	Fetal Brain Male	brain
7	chr2:152952200-152953800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:152953200-152956000	Active TSS	Brain Anterior Caudate	brain
9	chr2:152953400-152953600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:152953400-152953800	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr2:152953400-152953800	Bivalent Enhancer	HepG2	liver
12	chr2:152953400-152953800	Enhancers	HSMMtube	muscle
13	chr2:152953400-152954000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:152953400-152955800	Active TSS	Brain Cingulate Gyrus	brain
15	chr2:152953400-152955800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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