Variant report

Variant	rs2074309
Chromosome Location	chr11:17435214-17435215
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	chr11:17434981-17435400	HepG2	liver:	n/a	chr11:17435187-17435204 chr11:17435195-17435206
2	NR2F2	chr11:17435102-17435783	MCF-7	breast:	n/a	n/a
3	MAFK	chr11:17434759-17435388	H1-hESC	embryonic stem cell:	n/a	chr11:17435187-17435204 chr11:17435195-17435206
4	MAFK	chr11:17435001-17435385	HepG2	liver:	n/a	chr11:17435187-17435204 chr11:17435195-17435206
5	HDAC2	chr11:17434937-17435660	MCF-7	breast:	n/a	n/a
6	MAFK	chr11:17435007-17435366	Hela-S3	cervix:	n/a	chr11:17435187-17435204 chr11:17435195-17435206
7	GATA3	chr11:17435084-17435771	MCF-7	breast:	n/a	n/a
8	FOXA2	chr11:17435108-17435405	HepG2	liver:	n/a	n/a
9	MAFK	chr11:17435009-17435378	K562	blood:	n/a	chr11:17435187-17435204 chr11:17435195-17435206
10	MAFF	chr11:17435005-17435445	HepG2	liver:	n/a	n/a
11	MAFK	chr11:17434843-17435478	GM12878	blood:	n/a	chr11:17435187-17435204 chr11:17435195-17435206
12	MAFK	chr11:17435005-17435435	IMR90	lung:	n/a	chr11:17435187-17435204 chr11:17435195-17435206
13	MAFF	chr11:17435009-17435402	K562	blood:	n/a	n/a
14	RFX5	chr11:17434943-17435452	HepG2	liver:	n/a	n/a
15	FOXA1	chr11:17435176-17435566	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17435065..17437385-chr11:17449381..17451000,2	MCF-7	breast:

Variant related genes	Relation type
ABCC8	TF binding region
ENSG00000006071	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10766397	0.89[EUR][1000 genomes]
rs10766398	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1319447	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs2106865	0.92[CEU][hapmap];0.84[TSI][hapmap];0.90[EUR][1000 genomes]
rs2237993	0.89[EUR][1000 genomes]
rs4148625	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs739688	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469895	chr11:17368270-17584220	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv528959	chr11:17403639-17435214	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv467713	chr11:17408025-17440473	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv553584	chr11:17408025-17440473	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2074309	C11orf58	cis	cerebellum	SCAN
rs2074309	HPS5	cis	cerebellum	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17418600-17453600	Weak transcription	Fetal Brain Female	brain
2	chr11:17422000-17435800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:17428200-17450200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:17430400-17439400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr11:17431800-17435400	Enhancers	Lung	lung
6	chr11:17432000-17437400	Enhancers	Pancreas	Pancrea
7	chr11:17432600-17436600	Enhancers	Stomach Mucosa	stomach
8	chr11:17432800-17436200	Weak transcription	Right Ventricle	heart
9	chr11:17433400-17436200	Weak transcription	Left Ventricle	heart
10	chr11:17433800-17435400	Enhancers	Gastric	stomach
11	chr11:17434000-17435400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:17434000-17436400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:17434600-17435400	Enhancers	HepG2	liver
14	chr11:17434600-17436000	Enhancers	Fetal Intestine Small	intestine
15	chr11:17434800-17435400	Enhancers	Liver	Liver
16	chr11:17434800-17436400	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr11:17434800-17440400	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr11:17435000-17436000	Weak transcription	Fetal Lung	lung
19	chr11:17435000-17438600	Enhancers	Fetal Thymus	thymus
20	chr11:17435000-17440200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:17435000-17442000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr11:17435000-17442200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr11:17435000-17443200	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr11:17435200-17435800	Weak transcription	Colonic Mucosa	Colon
25	chr11:17435200-17436400	Flanking Active TSS	Dnd41	blood
26	chr11:17435200-17460600	Weak transcription	Right Atrium	heart

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