Variant report

Variant	rs13001583
Chromosome Location	chr2:145778108-145778109
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	EP300	chr2:145778081-145778742	A549	lung:	n/a	n/a
2	CEBPB	chr2:145777889-145778537	A549	lung:	n/a	chr2:145778036-145778047
3	CEBPB	chr2:145777890-145778146	HepG2	liver:	n/a	chr2:145778036-145778047
4	TCF12	chr2:145778029-145778815	A549	lung:	n/a	n/a
5	GATA3	chr2:145778000-145778878	A549	lung:	n/a	n/a
6	CEBPB	chr2:145777947-145778173	K562	blood:	n/a	chr2:145778036-145778047
7	CEBPD	chr2:145777713-145778162	K562	blood:	n/a	n/a
8	FOSL2	chr2:145778065-145778779	A549	lung:	n/a	n/a
9	EP300	chr2:145777971-145778883	A549	lung:	n/a	n/a
10	BCL3	chr2:145778097-145778750	A549	lung:	n/a	n/a
11	CEBPB	chr2:145777909-145778576	IMR90	lung:	n/a	chr2:145778036-145778047

Variant related genes	Relation type
TEX41	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10496971	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11689317	0.88[AMR][1000 genomes]
rs12616953	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12621647	0.86[AMR][1000 genomes]
rs12990953	0.84[ASN][1000 genomes]
rs13004410	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13009916	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13010262	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13010313	0.86[AMR][1000 genomes]
rs13033869	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1371047	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16824386	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1898732	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2381685	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs34409381	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34948552	0.86[AMR][1000 genomes]
rs34985138	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4662413	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56014517	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56795645	0.83[AMR][1000 genomes]
rs67431032	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs67969609	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv932113	chr2:145515124-145844491	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv834398	chr2:145659419-145830156	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv431768	chr2:145741527-145981491	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv2027100	chr2:145777690-145778109	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145770000-145780400	Weak transcription	Ovary	ovary
2	chr2:145770400-145778200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:145770600-145779200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:145770600-145779400	Weak transcription	Fetal Lung	lung
5	chr2:145770600-145779600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:145771200-145782600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:145773600-145779600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:145773600-145780800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr2:145773800-145779600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:145774600-145778200	Weak transcription	NHDF-Ad	bronchial
11	chr2:145775200-145778200	Weak transcription	Osteobl	bone
12	chr2:145775600-145778200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:145776400-145779000	Weak transcription	NHLF	lung
14	chr2:145776600-145779600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:145777600-145778400	Weak transcription	HSMM	muscle
16	chr2:145778000-145778200	Flanking Active TSS	A549	lung

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