Variant report

Variant	rs1686468
Chromosome Location	chr2:10986626-10986627
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	NR3C1	chr2:10986240-10986944	A549	lung:	n/a	chr2:10986512-10986526 chr2:10986506-10986532 chr2:10986512-10986526 chr2:10986511-10986527 chr2:10986511-10986527 chr2:10986449-10986475 chr2:10986508-10986529 chr2:10986510-10986528 chr2:10986506-10986532 chr2:10986511-10986527 chr2:10986506-10986532 chr2:10986511-10986528 chr2:10986509-10986530 chr2:10986449-10986475 chr2:10986511-10986527 chr2:10986506-10986532 chr2:10986506-10986532 chr2:10986512-10986526
2	NR3C1	chr2:10986299-10986992	A549	lung:	n/a	chr2:10986512-10986526 chr2:10986506-10986532 chr2:10986512-10986526 chr2:10986511-10986527 chr2:10986511-10986527 chr2:10986449-10986475 chr2:10986508-10986529 chr2:10986510-10986528 chr2:10986506-10986532 chr2:10986511-10986527 chr2:10986506-10986532 chr2:10986511-10986528 chr2:10986509-10986530 chr2:10986449-10986475 chr2:10986511-10986527 chr2:10986506-10986532 chr2:10986506-10986532 chr2:10986512-10986526
3	REST	chr2:10986620-10987062	H1-neurons	neurons:	n/a	n/a
4	FOXA1	chr2:10986197-10986918	A549	lung:	n/a	n/a
5	NR3C1	chr2:10986312-10986921	A549	lung:	n/a	chr2:10986512-10986526 chr2:10986506-10986532 chr2:10986512-10986526 chr2:10986511-10986527 chr2:10986511-10986527 chr2:10986449-10986475 chr2:10986508-10986529 chr2:10986510-10986528 chr2:10986506-10986532 chr2:10986511-10986527 chr2:10986506-10986532 chr2:10986511-10986528 chr2:10986509-10986530 chr2:10986449-10986475 chr2:10986511-10986527 chr2:10986506-10986532 chr2:10986506-10986532 chr2:10986512-10986526
6	ARID3A	chr2:10986594-10986926	HepG2	liver:	n/a	n/a
7	HDAC2	chr2:10986597-10986942	HepG2	liver:	n/a	n/a
8	FOXA1	chr2:10986212-10986834	A549	lung:	n/a	n/a
9	NR3C1	chr2:10986220-10987035	A549	lung:	n/a	chr2:10986512-10986526 chr2:10986506-10986532 chr2:10986512-10986526 chr2:10986511-10986527 chr2:10986511-10986527 chr2:10986449-10986475 chr2:10986508-10986529 chr2:10986510-10986528 chr2:10986506-10986532 chr2:10986511-10986527 chr2:10986506-10986532 chr2:10986511-10986528 chr2:10986509-10986530 chr2:10986449-10986475 chr2:10986511-10986527 chr2:10986506-10986532 chr2:10986506-10986532 chr2:10986512-10986526
10	NR3C1	chr2:10986190-10987097	A549	lung:	n/a	chr2:10986512-10986526 chr2:10986506-10986532 chr2:10986512-10986526 chr2:10986511-10986527 chr2:10986511-10986527 chr2:10986449-10986475 chr2:10986508-10986529 chr2:10986510-10986528 chr2:10986506-10986532 chr2:10986511-10986527 chr2:10986506-10986532 chr2:10987031-10987038 chr2:10986511-10986528 chr2:10986509-10986530 chr2:10986449-10986475 chr2:10986511-10986527 chr2:10986506-10986532 chr2:10986506-10986532 chr2:10986512-10986526
11	TEAD4	chr2:10986555-10987058	HepG2	liver:	n/a	n/a
12	NR3C1	chr2:10986624-10986911	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:10984035..10986902-chr2:10994929..10997652,2	MCF-7	breast:
2	chr2:10975730..10978312-chr2:10984750..10987665,2	K562	blood:

Variant related genes	Relation type
ENSG00000232056	TF binding region
ENSG00000143870	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1627878	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1628911	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1686461	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1686462	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1686463	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1686465	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1686466	0.89[CHB][hapmap];0.89[ASN][1000 genomes]
rs1686467	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1734395	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1734396	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1734397	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1734398	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1734399	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2357818	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2357819	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2884291	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2969891	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4669633	0.86[CHB][hapmap];0.91[CHD][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10979400-11000400	Weak transcription	Fetal Brain Male	brain
2	chr2:10984200-10987000	Active TSS	Right Ventricle	heart
3	chr2:10984200-10987400	Enhancers	Fetal Heart	heart
4	chr2:10984400-10988000	Active TSS	Right Atrium	heart
5	chr2:10984400-10988600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:10984600-10987000	Weak transcription	Lung	lung
7	chr2:10984800-10987000	Enhancers	Fetal Muscle Leg	muscle
8	chr2:10984800-10988800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:10985400-10986800	Enhancers	Stomach Smooth Muscle	stomach
10	chr2:10985600-10986800	Enhancers	Colon Smooth Muscle	Colon
11	chr2:10985800-10987200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr2:10985800-10988000	Enhancers	HepG2	liver
13	chr2:10986000-10986800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:10986000-10987200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:10986000-10987200	Enhancers	Brain Anterior Caudate	brain
16	chr2:10986000-10988000	Enhancers	Brain Cingulate Gyrus	brain
17	chr2:10986000-10988000	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr2:10986000-10989000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:10986200-10987200	Weak transcription	Gastric	stomach
20	chr2:10986400-10986800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:10986400-10988800	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr2:10986600-10986800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:10986600-10986800	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr2:10986600-10987000	Enhancers	Left Ventricle	heart
25	chr2:10986600-10987000	Weak transcription	Psoas Muscle	Psoas
26	chr2:10986600-10987200	Enhancers	HSMMtube	muscle

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