Variant report

Variant	rs7580268
Chromosome Location	chr2:72985132-72985133
allele	A/G
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	CEBPB	chr2:72984934-72985320	HepG2	liver:	n/a	chr2:72985081-72985092
2	CEBPB	chr2:72984848-72985288	A549	lung:	n/a	chr2:72985081-72985092
3	CEBPB	chr2:72984388-72985274	A549	lung:	n/a	chr2:72985081-72985092
4	CEBPB	chr2:72984827-72985341	MCF-7	breast:	n/a	chr2:72985081-72985092
5	CEBPB	chr2:72984072-72985281	Hela-S3	cervix:	n/a	chr2:72985081-72985092
6	CEBPB	chr2:72984456-72985266	HepG2	liver:	n/a	chr2:72985081-72985092
7	CEBPB	chr2:72984908-72985254	K562	blood:	n/a	chr2:72985081-72985092
8	CEBPB	chr2:72984895-72985277	IMR90	lung:	n/a	chr2:72985081-72985092
9	CEBPB	chr2:72984014-72985278	HepG2	liver:	n/a	chr2:72985081-72985092
10	CEBPB	chr2:72984832-72985293	MCF-7	breast:	n/a	chr2:72985081-72985092
11	TEAD4	chr2:72983985-72985255	HepG2	liver:	n/a	n/a
12	CEBPB	chr2:72984296-72985405	A549	lung:	n/a	chr2:72985081-72985092
13	CEBPD	chr2:72984943-72985213	HepG2	liver:	n/a	n/a
14	CEBPB	chr2:72984916-72985265	H1-hESC	embryonic stem cell:	n/a	chr2:72985081-72985092
15	FOXA2	chr2:72983724-72985190	HepG2	liver:	n/a	n/a
16	GATA2	chr2:72984376-72985181	SH-SY5Y	brain:	n/a	chr2:72984567-72984581

Variant related genes	Relation type
ENSG00000212378	TF binding region

Extended variants
information (count: 151 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:150)

rs_ID	r²[population]
rs10183056	1.00[ASN][1000 genomes]
rs10206555	1.00[ASN][1000 genomes]
rs10211019	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1027848	0.83[EUR][1000 genomes]
rs1032982	1.00[CHB][hapmap]
rs10460572	1.00[ASN][1000 genomes]
rs10496186	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10865391	1.00[ASN][1000 genomes]
rs10865392	0.92[CEU][hapmap];1.00[ASN][1000 genomes]
rs10865393	0.83[EUR][1000 genomes]
rs11126370	1.00[ASN][1000 genomes]
rs11126371	1.00[ASN][1000 genomes]
rs11126372	1.00[ASN][1000 genomes]
rs11126373	1.00[ASN][1000 genomes]
rs11126374	1.00[ASN][1000 genomes]
rs11126376	1.00[CHB][hapmap]
rs11126385	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1150500	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs1161265	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs1161267	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs11676555	1.00[CHB][hapmap]
rs11677707	1.00[CHB][hapmap]
rs11679683	1.00[CHB][hapmap]
rs11684985	1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11685114	1.00[CHB][hapmap]
rs11686713	1.00[CHB][hapmap]
rs11894160	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12471136	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12471312	1.00[CHB][hapmap]
rs12476130	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12618390	1.00[ASN][1000 genomes]
rs12622275	0.83[EUR][1000 genomes]
rs12713772	1.00[ASN][1000 genomes]
rs12713773	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12713774	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12713775	0.91[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12989141	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12996319	1.00[CHB][hapmap]
rs12996406	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12998681	1.00[ASN][1000 genomes]
rs13006497	1.00[CHB][hapmap]
rs13008041	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13008258	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13011477	1.00[CHB][hapmap]
rs13016873	1.00[ASN][1000 genomes]
rs13035731	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1396106	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1400580	1.00[ASN][1000 genomes]
rs1446887	1.00[CHB][hapmap]
rs1446888	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1446889	1.00[ASN][1000 genomes]
rs1446890	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1446891	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1446892	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1446893	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1446895	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446896	1.00[CHB][hapmap]
rs1508061	1.00[CHB][hapmap]
rs1567230	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs1596930	1.00[CHB][hapmap]
rs1596931	1.00[CHB][hapmap]
rs1711838	1.00[ASN][1000 genomes]
rs17503444	1.00[CHB][hapmap]
rs1911690	1.00[CHB][hapmap]
rs1992799	1.00[ASN][1000 genomes]
rs1995734	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2048170	0.81[EUR][1000 genomes]
rs2048171	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2135985	0.82[EUR][1000 genomes]
rs2138683	1.00[ASN][1000 genomes]
rs2420565	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2420880	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs2420881	0.83[EUR][1000 genomes]
rs2420883	0.83[EUR][1000 genomes]
rs2421095	0.91[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs4144318	1.00[ASN][1000 genomes]
rs4321391	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs4364045	1.00[CHB][hapmap]
rs4407272	1.00[ASN][1000 genomes]
rs4852291	1.00[ASN][1000 genomes]
rs4852292	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs4852293	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852294	1.00[ASN][1000 genomes]
rs4852298	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852872	1.00[ASN][1000 genomes]
rs4852875	1.00[ASN][1000 genomes]
rs4852876	1.00[ASN][1000 genomes]
rs4852877	1.00[ASN][1000 genomes]
rs4852878	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4852880	0.85[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852883	1.00[CHB][hapmap]
rs4852886	1.00[CHB][hapmap]
rs4852888	1.00[CHB][hapmap]
rs4852889	1.00[CHB][hapmap]
rs4852890	1.00[CHB][hapmap]
rs4852891	1.00[CHB][hapmap]
rs4852893	0.92[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852902	0.82[EUR][1000 genomes]
rs583673	1.00[ASN][1000 genomes]
rs585938	1.00[ASN][1000 genomes]
rs650352	1.00[ASN][1000 genomes]
rs654157	1.00[ASN][1000 genomes]
rs6546776	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6546777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6546778	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6546779	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546781	1.00[CHB][hapmap]
rs6546782	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546783	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546786	0.81[EUR][1000 genomes]
rs6546788	0.82[EUR][1000 genomes]
rs6546789	0.82[EUR][1000 genomes]
rs6546790	0.82[EUR][1000 genomes]
rs6546791	0.82[EUR][1000 genomes]
rs6546792	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6707435	1.00[ASN][1000 genomes]
rs6714580	1.00[ASN][1000 genomes]
rs6724529	1.00[CHB][hapmap]
rs6730083	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs6739002	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6742088	1.00[ASN][1000 genomes]
rs6742312	1.00[ASN][1000 genomes]
rs6747378	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6750740	0.85[EUR][1000 genomes]
rs6750766	1.00[ASN][1000 genomes]
rs6758431	0.83[EUR][1000 genomes]
rs6758542	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6761075	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs683328	1.00[ASN][1000 genomes]
rs7420391	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7560529	1.00[ASN][1000 genomes]
rs7560599	1.00[ASN][1000 genomes]
rs7565198	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7571064	0.92[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7577238	1.00[CHB][hapmap]
rs7586787	0.87[EUR][1000 genomes]
rs7588400	1.00[CHB][hapmap]
rs7588602	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7591025	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7591303	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7592155	0.91[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7598238	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7601020	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7601318	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7603797	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs925146	0.83[EUR][1000 genomes]
rs925147	0.83[EUR][1000 genomes]
rs925148	0.83[EUR][1000 genomes]
rs983928	1.00[ASN][1000 genomes]
rs990569	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834259	chr2:72941118-73114106	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7580268	CYP26B1	cis	Whole Blood	GTEx

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72923000-73008600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:72938200-72987800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:72976000-72988400	Weak transcription	Fetal Lung	lung
4	chr2:72981400-73000800	Weak transcription	Pancreas	Pancrea
5	chr2:72982200-72985200	Enhancers	Stomach Mucosa	stomach
6	chr2:72982200-72985800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:72982200-72987600	Enhancers	Fetal Heart	heart
8	chr2:72982400-72985200	Enhancers	HUVEC	blood vessel
9	chr2:72982600-72985200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:72982600-72985200	Enhancers	NHEK	skin
11	chr2:72982800-72985200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:72982800-72988800	Weak transcription	Fetal Stomach	stomach
13	chr2:72983000-72989000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:72983200-72988600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:72983200-72997800	Weak transcription	Brain Hippocampus Middle	brain
16	chr2:72983200-72999200	Weak transcription	Left Ventricle	heart
17	chr2:72983400-72986200	Weak transcription	Brain Substantia Nigra	brain
18	chr2:72983400-72986600	Weak transcription	Right Ventricle	heart
19	chr2:72983600-72985400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr2:72983800-72990200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:72984000-72985200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:72984000-72990400	Weak transcription	NH-A	brain
23	chr2:72984200-72992800	Weak transcription	HSMM	muscle
24	chr2:72984400-72985200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:72984400-72985200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:72984400-72985200	Enhancers	Ovary	ovary
27	chr2:72984400-72985200	Enhancers	Right Atrium	heart
28	chr2:72984400-72985200	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr2:72984400-72985200	Enhancers	Hela-S3	cervix
30	chr2:72984600-72985200	Flanking Active TSS	A549	lung
31	chr2:72984600-72985200	Flanking Active TSS	HepG2	liver
32	chr2:72984600-72985400	Enhancers	Placenta	Placenta
33	chr2:72984600-72986800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:72984800-72985200	Enhancers	Fetal Intestine Large	intestine
35	chr2:72984800-72993200	Weak transcription	Osteobl	bone
36	chr2:72985000-72988000	Weak transcription	Fetal Intestine Small	intestine

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