Variant report

Variant	rs10008238
Chromosome Location	chr4:87282216-87282217
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	MAFK	chr4:87282143-87282457	IMR90	lung:	n/a	chr4:87282298-87282312 chr4:87282300-87282315 chr4:87282295-87282315 chr4:87282297-87282313
2	CEBPB	chr4:87282050-87282226	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAFK	chr4:87282166-87282434	HepG2	liver:	n/a	chr4:87282298-87282312 chr4:87282300-87282315 chr4:87282295-87282315 chr4:87282297-87282313
4	CEBPB	chr4:87281995-87282246	IMR90	lung:	n/a	chr4:87282033-87282044
5	CEBPB	chr4:87282013-87282251	HepG2	liver:	n/a	chr4:87282033-87282044
6	MAFK	chr4:87282165-87282365	K562	blood:	n/a	chr4:87282298-87282312 chr4:87282300-87282315 chr4:87282295-87282315 chr4:87282297-87282313
7	MAFK	chr4:87282123-87282474	HepG2	liver:	n/a	chr4:87282298-87282312 chr4:87282300-87282315 chr4:87282295-87282315 chr4:87282297-87282313
8	MAFF	chr4:87282125-87282478	HepG2	liver:	n/a	chr4:87282299-87282317 chr4:87282298-87282312

Variant related genes	Relation type
MAPK10	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1031737	0.87[CEU][hapmap]
rs11947620	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13130598	0.90[CEU][hapmap]
rs1460751	0.87[CEU][hapmap];0.84[CHD][hapmap];0.84[TSI][hapmap]
rs1460753	0.87[CEU][hapmap];0.84[CHD][hapmap];0.84[TSI][hapmap]
rs1460754	0.91[CEU][hapmap]
rs1466380	0.87[CEU][hapmap]
rs17011756	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28520822	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2904102	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3926499	0.91[CEU][hapmap]
rs4450887	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6827098	0.87[CEU][hapmap];0.82[TSI][hapmap]
rs6852494	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7437117	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7655217	0.91[CEU][hapmap];0.83[CHD][hapmap];0.84[TSI][hapmap]
rs9307018	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.86[MKK][hapmap];0.98[TSI][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][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	nsv594786	chr4:87076360-87609320	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv999470	chr4:87165663-87514552	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	nsv537164	chr4:87165663-87514552	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv934210	chr4:87197339-87325578	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1012836	chr4:87279206-87643558	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10008238	HSD17B11	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87275600-87302400	Weak transcription	Aorta	Aorta
2	chr4:87278400-87282400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:87281600-87285400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:87281600-87315800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr4:87281800-87282400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr4:87281800-87282400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr4:87281800-87282400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr4:87281800-87282400	Enhancers	Primary B cells from cord blood	blood
9	chr4:87281800-87282400	Enhancers	Brain Substantia Nigra	brain
10	chr4:87281800-87282400	Enhancers	Fetal Kidney	kidney
11	chr4:87281800-87282400	Enhancers	Dnd41	blood
12	chr4:87281800-87282600	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr4:87281800-87282600	Enhancers	Fetal Brain Male	brain
14	chr4:87281800-87282800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:87281800-87285000	Weak transcription	Fetal Stomach	stomach
16	chr4:87282000-87282400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:87282000-87282400	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr4:87282000-87282600	Enhancers	Brain Angular Gyrus	brain
19	chr4:87282000-87282800	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr4:87282000-87283000	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr4:87282200-87282400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr4:87282200-87283000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr4:87282200-87283200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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