Variant report

Variant	rs4482754
Chromosome Location	chr4:87011304-87011305
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	chr4:87011200-87011377	K562	blood:	n/a	n/a
2	CEBPB	chr4:87011160-87011360	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr4:87011114-87011427	IMR90	lung:	n/a	n/a
4	CEBPB	chr4:87011188-87011394	K562	blood:	n/a	n/a
5	ELF1	chr4:87011074-87011383	K562	blood:	n/a	chr4:87011220-87011233
6	CEBPB	chr4:87011178-87011337	Hela-S3	cervix:	n/a	n/a
7	MAZ	chr4:87011096-87011354	K562	blood:	n/a	chr4:87011249-87011259
8	E2F4	chr4:87011234-87011348	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
MAPK10	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10001162	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10009993	0.90[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.99[ASN][1000 genomes]
rs10023731	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10028075	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1010778	1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10856856	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11097091	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11097092	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11934691	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12502902	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12502934	0.96[CEU][hapmap];0.97[GIH][hapmap];0.92[TSI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12512583	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12644938	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12644947	0.95[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs13103374	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13112959	1.00[CEU][hapmap];0.97[GIH][hapmap];0.89[MEX][hapmap];0.92[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1436521	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1436527	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1469869	1.00[CEU][hapmap];0.97[GIH][hapmap];0.89[MEX][hapmap];0.92[TSI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2118044	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2589514	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs3775181	0.83[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3775183	0.83[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3775187	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.83[MKK][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4133139	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4364253	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4487330	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4501213	1.00[CEU][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6531896	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6810413	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6840318	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7692676	0.91[ASN][1000 genomes]
rs9884770	0.96[CEU][hapmap];0.97[GIH][hapmap];0.92[TSI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9995879	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];0.92[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9996208	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009622	chr4:86893536-87119153	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1003585	chr4:86957967-87250436	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv594761	chr4:86976413-87018488	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv2754254	chr4:86979147-87108510	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv879521	chr4:86979927-87165758	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4482754	HNRPDL	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87004000-87028400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr4:87005000-87050400	Weak transcription	Brain Angular Gyrus	brain
3	chr4:87005400-87028200	Weak transcription	Ovary	ovary
4	chr4:87005400-87028400	Weak transcription	Fetal Stomach	stomach
5	chr4:87005600-87023000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr4:87005600-87026200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr4:87005600-87031200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr4:87005600-87035200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:87009200-87027400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:87009400-87011800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr4:87009400-87011800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr4:87010200-87011800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr4:87010200-87012200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr4:87010400-87011800	Enhancers	Fetal Lung	lung
15	chr4:87010400-87012800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr4:87010400-87012800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr4:87010800-87011400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr4:87010800-87035800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr4:87011000-87011600	Enhancers	Brain Anterior Caudate	brain
20	chr4:87011000-87011800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:87011000-87012000	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr4:87011200-87011400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr4:87011200-87011600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:87011200-87011600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:87011200-87013600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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