Variant report

Variant	rs1017730
Chromosome Location	chr11:47733494-47733495
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	CEBPB	chr11:47733456-47733627	K562	blood:	n/a	chr11:47733575-47733586
2	CEBPB	chr11:47733414-47733762	HepG2	liver:	n/a	chr11:47733575-47733586
3	CEBPB	chr11:47733483-47733662	HepG2	liver:	n/a	chr11:47733575-47733586
4	CEBPB	chr11:47733465-47733642	A549	lung:	n/a	chr11:47733575-47733586

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:47733134..47735663-chr11:47755536..47757163,2	MCF-7	breast:

Variant related genes	Relation type
AGBL2	TF binding region
ENSG00000109920	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10769288	0.94[JPT][hapmap]
rs10838726	0.81[CHB][hapmap]
rs11039292	1.00[LWK][hapmap]
rs11039302	1.00[LWK][hapmap]
rs11039315	1.00[LWK][hapmap]
rs11039332	0.81[CHB][hapmap];0.85[TSI][hapmap]
rs11039364	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2125835	1.00[LWK][hapmap]
rs2280231	1.00[ASW][hapmap];0.93[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap];0.93[MEX][hapmap];0.82[MKK][hapmap];0.81[TSI][hapmap]
rs34228231	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6485795	0.81[CEU][hapmap];0.80[TSI][hapmap]
rs7114011	0.81[CHB][hapmap];0.82[TSI][hapmap]
rs7118178	1.00[ASW][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.94[JPT][hapmap];0.93[MEX][hapmap];0.93[MKK][hapmap];0.81[TSI][hapmap];0.84[ASN][1000 genomes]
rs7120548	1.00[ASW][hapmap];0.81[CHB][hapmap];0.82[MKK][hapmap]
rs7927445	0.81[CHB][hapmap];0.82[TSI][hapmap]
rs7934481	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469858	chr11:47647515-47837172	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	nsv832143	chr11:47700808-47883540	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1017730	FNBP4	Cis_1M	lymphoblastoid	RTeQTL
rs1017730	MADD	cis	parietal	SCAN
rs1017730	C1QTNF4	cis	lymphoblastoid	seeQTL

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47705600-47735600	Weak transcription	Primary B cells from cord blood	blood
2	chr11:47712000-47736000	Weak transcription	Fetal Intestine Small	intestine
3	chr11:47722400-47735800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:47729200-47736000	Weak transcription	Hela-S3	cervix
5	chr11:47731400-47734400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr11:47732200-47735800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr11:47732200-47736000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr11:47732400-47735800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:47732400-47736000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr11:47732400-47736000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:47732400-47736000	Weak transcription	Osteobl	bone
12	chr11:47732400-47737600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:47732600-47735600	Weak transcription	Brain Anterior Caudate	brain
14	chr11:47732800-47735600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr11:47733000-47733800	Enhancers	Liver	Liver
16	chr11:47733000-47735800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr11:47733000-47736800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:47733200-47735400	Weak transcription	HepG2	liver
19	chr11:47733200-47735800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr11:47733200-47736000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr11:47733200-47736200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr11:47733400-47734400	Enhancers	Fetal Lung	lung
23	chr11:47733400-47736000	Weak transcription	Pancreas	Pancrea

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