Variant report

Variant	rs17107930
Chromosome Location	chr14:79076978-79076979
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	STAT3	chr14:79076967-79077167	MCF10A-Er-Src	breast:	n/a	n/a
2	REST	chr14:79076897-79078089	H1-neurons	neurons:	n/a	chr14:79077331-79077344

Variant related genes	Relation type
NRXN3	TF binding region

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10483908	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10483909	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10483910	1.00[CEU][hapmap]
rs10483912	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12587427	0.99[ASN][1000 genomes]
rs1558954	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs17094080	1.00[CEU][hapmap]
rs17107907	0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs17107912	0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs17107940	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17107945	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17107950	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17107955	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17107963	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs17107972	1.00[CEU][hapmap]
rs17107978	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17107982	1.00[CEU][hapmap]
rs17107986	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17107993	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17108011	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17108021	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17108027	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17108040	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17757034	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs17835469	1.00[CEU][hapmap]
rs2287495	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs55853427	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57416351	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57609667	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58271165	0.99[ASN][1000 genomes]
rs59429125	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59887424	0.93[ASN][1000 genomes]
rs60501605	0.85[EUR][1000 genomes]
rs60568650	1.00[ASN][1000 genomes]
rs61314717	0.85[EUR][1000 genomes]
rs61393149	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61976090	0.85[EUR][1000 genomes]
rs61976091	0.85[EUR][1000 genomes]
rs61976092	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61976094	0.87[EUR][1000 genomes]
rs61976095	0.85[EUR][1000 genomes]
rs61976097	0.82[EUR][1000 genomes]
rs61976098	0.82[EUR][1000 genomes]
rs61976100	0.85[EUR][1000 genomes]
rs61976101	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61976102	0.88[EUR][1000 genomes]
rs61976103	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61976104	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61976105	0.82[EUR][1000 genomes]
rs61976106	0.85[EUR][1000 genomes]
rs61976107	0.85[EUR][1000 genomes]
rs61976109	0.85[EUR][1000 genomes]
rs61976112	0.82[EUR][1000 genomes]
rs61976113	0.82[EUR][1000 genomes]
rs61976114	0.82[EUR][1000 genomes]
rs61976115	0.82[EUR][1000 genomes]
rs61976120	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6574456	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6574459	0.94[ASN][1000 genomes]
rs7142533	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7153070	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs72683546	0.85[EUR][1000 genomes]
rs72683554	0.85[EUR][1000 genomes]
rs72683556	0.85[EUR][1000 genomes]
rs72683559	0.85[EUR][1000 genomes]
rs74064325	0.97[ASN][1000 genomes]
rs8017659	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8019422	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9646166	1.00[JPT][hapmap];0.87[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	esv2760000	chr14:78875607-79173528	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv2758363	chr14:78903610-79173528	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv34435	chr14:79055398-79111151	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
4	esv2757578	chr14:79055398-79140536	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
5	nsv1367	chr14:79067521-79106387	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79065000-79077400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr14:79071800-79077200	Weak transcription	Fetal Brain Male	brain
3	chr14:79073400-79078400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr14:79074200-79078400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr14:79074400-79078200	Weak transcription	NHDF-Ad	bronchial
6	chr14:79075200-79077400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr14:79075400-79077200	Weak transcription	Brain Hippocampus Middle	brain
8	chr14:79075400-79079200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr14:79076600-79078800	Enhancers	Brain Germinal Matrix	brain

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