Variant report

Variant	rs17107494
Chromosome Location	chr14:78869907-78869908
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	NFIC	chr14:78869401-78870172	GM12878	blood:	n/a	n/a
2	RUNX3	chr14:78869538-78870094	GM12878	blood:	n/a	n/a
3	RUNX3	chr14:78869511-78870207	GM12878	blood:	n/a	n/a
4	NFATC1	chr14:78869574-78870090	GM12878	blood:	n/a	n/a
5	STAT3	chr14:78869528-78869939	MCF10A-Er-Src	breast:	n/a	chr14:78869755-78869763 chr14:78869778-78869785 chr14:78869858-78869870 chr14:78869753-78869764
6	POLR2A	chr14:78869895-78870180	GM12878	blood:	n/a	n/a
7	POLR2A	chr14:78869550-78870038	U87	brain:	n/a	n/a
8	POLR2A	chr14:78869716-78870319	GM12878	blood:	n/a	n/a
9	NFATC1	chr14:78869542-78870021	GM12878	blood:	n/a	n/a
10	FOS	chr14:78869614-78869923	MCF10A-Er-Src	breast:	n/a	chr14:78869795-78869807
11	NFIC	chr14:78869444-78870043	GM12878	blood:	n/a	n/a
12	USF1	chr14:78869575-78869943	H1-hESC	embryonic stem cell:	n/a	n/a
13	EBF1	chr14:78869487-78870143	GM12878	blood:	n/a	chr14:78869852-78869861 chr14:78869850-78869861 chr14:78869850-78869863
14	STAT3	chr14:78869352-78869957	MCF10A-Er-Src	breast:	n/a	chr14:78869755-78869763 chr14:78869778-78869785 chr14:78869858-78869870 chr14:78869753-78869764
15	POLR2A	chr14:78869747-78870222	GM12878	blood:	n/a	n/a
16	BHLHE40	chr14:78869631-78870015	GM12878	blood:	n/a	n/a
17	ATF2	chr14:78869421-78870121	GM12878	blood:	n/a	n/a
18	STAT1	chr14:78869594-78870151	GM12878	blood:	n/a	chr14:78869755-78869763 chr14:78869778-78869785 chr14:78869858-78869870
19	BCL3	chr14:78869486-78870085	GM12878	blood:	n/a	n/a
20	IRF4	chr14:78869594-78870105	GM12878	blood:	n/a	n/a
21	FOS	chr14:78869625-78869913	MCF10A-Er-Src	breast:	n/a	chr14:78869795-78869807
22	POU2F2	chr14:78869466-78870145	GM12878	blood:	n/a	n/a
23	CREB1	chr14:78869515-78870142	GM12878	blood:	n/a	n/a
24	MTA3	chr14:78869527-78870104	GM12878	blood:	n/a	n/a
25	POU2F2	chr14:78869667-78870073	GM12878	blood:	n/a	n/a
26	EBF1	chr14:78869396-78870200	GM12878	blood:	n/a	chr14:78869852-78869861 chr14:78869850-78869861 chr14:78869850-78869863
27	ATF2	chr14:78869496-78870072	GM12878	blood:	n/a	n/a
28	PAX5	chr14:78869339-78870240	GM12878	blood:	n/a	n/a
29	ZNF143	chr14:78869879-78869962	GM12878	blood:	n/a	n/a
30	STAT3	chr14:78869561-78870002	MCF10A-Er-Src	breast:	n/a	chr14:78869755-78869763 chr14:78869778-78869785 chr14:78869858-78869870 chr14:78869753-78869764
31	FOS	chr14:78869554-78869935	MCF10A-Er-Src	breast:	n/a	chr14:78869795-78869807
32	FOXM1	chr14:78869418-78870017	GM12878	blood:	n/a	n/a
33	EBF1	chr14:78869624-78870113	GM12878	blood:	n/a	chr14:78869852-78869861 chr14:78869850-78869861 chr14:78869850-78869863
34	POLR2A	chr14:78869492-78870038	U87	brain:	n/a	n/a
35	POLR2A	chr14:78869461-78870081	U87	brain:	n/a	n/a
36	PML	chr14:78869558-78870225	GM12878	blood:	n/a	n/a
37	SMC3	chr14:78869692-78870026	GM12878	blood:	n/a	n/a
38	FOXM1	chr14:78869531-78870086	GM12878	blood:	n/a	n/a
39	TCF12	chr14:78869650-78870027	GM12878	blood:	n/a	n/a
40	POLR2A	chr14:78869851-78869960	H1-hESC	embryonic stem cell:	n/a	n/a
41	MEF2A	chr14:78869500-78870019	GM12878	blood:	n/a	chr14:78869685-78869706 chr14:78869686-78869701 chr14:78869685-78869706
42	STAT3	chr14:78869530-78869935	MCF10A-Er-Src	breast:	n/a	chr14:78869755-78869763 chr14:78869778-78869785 chr14:78869858-78869870 chr14:78869753-78869764
43	CUX1	chr14:78869622-78870029	GM12878	blood:	n/a	n/a
44	SP1	chr14:78869523-78870020	GM12878	blood:	n/a	chr14:78869552-78869573
45	PAX5	chr14:78869514-78870072	GM12878	blood:	n/a	n/a
46	MEF2A	chr14:78869531-78869999	GM12878	blood:	n/a	chr14:78869685-78869706 chr14:78869686-78869701 chr14:78869685-78869706

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:78868093..78870050-chr14:78874447..78876831,2	K562	blood:

Variant related genes	Relation type
NRXN3	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10132310	1.00[MEX][hapmap]
rs10134094	1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap]
rs10483900	0.84[ASN][1000 genomes]
rs17107497	1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];0.94[ASN][1000 genomes]
rs17107533	1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap]
rs2110422	1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap]
rs8013136	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832837	chr14:78766805-78946526	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78865400-78871200	Weak transcription	Brain Anterior Caudate	brain
2	chr14:78868200-78870200	Enhancers	HSMM	muscle
3	chr14:78868400-78870200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr14:78868400-78870400	Enhancers	NH-A	brain
5	chr14:78869200-78870200	Enhancers	Brain Germinal Matrix	brain
6	chr14:78869200-78872400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:78869400-78870800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr14:78869400-78871000	Active TSS	Brain Angular Gyrus	brain
9	chr14:78869400-78875000	Active TSS	GM12878-XiMat	blood
10	chr14:78869600-78870000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr14:78869600-78870200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr14:78869600-78870400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr14:78869600-78870600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr14:78869600-78870600	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr14:78869600-78870600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr14:78869600-78870800	Enhancers	H1 Cell Line	embryonic stem cell
17	chr14:78869600-78871000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr14:78869600-78871600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr14:78869800-78870200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr14:78869800-78870200	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr14:78869800-78870200	Enhancers	Esophagus	oesophagus
22	chr14:78869800-78870400	Enhancers	H9 Cell Line	embryonic stem cell
23	chr14:78869800-78870400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr14:78869800-78870600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr14:78869800-78870800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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