Variant report

Variant	rs13418262
Chromosome Location	chr2:11656507-11656508
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	POLR2A	chr2:11656356-11656647	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:11634128..11636998-chr2:11655433..11657027,2	K562	blood:

Variant related genes	Relation type
RNA5SP84	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10169987	0.86[ASN][1000 genomes]
rs10174895	0.86[ASN][1000 genomes]
rs10192123	0.86[ASN][1000 genomes]
rs10201673	0.86[ASN][1000 genomes]
rs10205078	0.86[ASN][1000 genomes]
rs10929750	0.86[ASN][1000 genomes]
rs11897533	0.86[ASN][1000 genomes]
rs13383410	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13388093	0.86[ASN][1000 genomes]
rs13395155	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13407457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13407702	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13424905	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13430148	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13432124	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13432756	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16857565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2002730	0.86[ASN][1000 genomes]
rs2043542	0.86[ASN][1000 genomes]
rs2082829	0.86[ASN][1000 genomes]
rs2082830	0.86[ASN][1000 genomes]
rs4668729	0.86[ASN][1000 genomes]
rs4669737	0.86[ASN][1000 genomes]
rs4669739	0.86[ASN][1000 genomes]
rs4669740	0.86[ASN][1000 genomes]
rs61362255	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6432209	0.86[ASN][1000 genomes]
rs6719003	0.86[ASN][1000 genomes]
rs6719009	0.86[ASN][1000 genomes]
rs6739168	0.86[ASN][1000 genomes]
rs6741736	0.86[ASN][1000 genomes]
rs6756327	0.86[ASN][1000 genomes]
rs73187472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7580473	0.99[EUR][1000 genomes]
rs7597108	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs875231	0.86[ASN][1000 genomes]
rs877164	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11647000-11664400	Weak transcription	Right Ventricle	heart
2	chr2:11647000-11665800	Weak transcription	Right Atrium	heart
3	chr2:11651200-11658200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:11651400-11657000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:11653200-11656600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:11653400-11657400	Enhancers	Ovary	ovary
7	chr2:11654000-11656600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:11654000-11664000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:11654400-11656800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr2:11654800-11664400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:11655000-11657000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:11655000-11657600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:11655400-11656600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr2:11655400-11657600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:11655400-11664000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:11655800-11657800	Genic enhancers	HepG2	liver
17	chr2:11656000-11657000	Weak transcription	Fetal Stomach	stomach
18	chr2:11656000-11660400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr2:11656200-11657200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:11656200-11661400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr2:11656200-11671000	Weak transcription	Fetal Muscle Leg	muscle
22	chr2:11656200-11672800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr2:11656400-11656600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr2:11656400-11656800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr2:11656400-11657800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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