Variant report

Variant	rs747540
Chromosome Location	chr14:65805525-65805526
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	GATA3	chr14:65805412-65805790	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr14:65805517-65805747	T-47D	breast:	n/a	n/a
3	GATA3	chr14:65805370-65805812	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65709860..65711374-chr14:65803916..65806781,2	MCF-7	breast:
2	chr14:65804493..65806113-chr14:65876032..65878007,2	MCF-7	breast:

Variant related genes	Relation type
MIR4708	TF binding region
ENSG00000033170	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10135541	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11844089	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11844728	1.00[CHB][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11846860	1.00[CHB][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11852179	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1270537	1.00[ASN][1000 genomes]
rs1272725	1.00[ASN][1000 genomes]
rs17102714	1.00[CHB][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17102760	1.00[ASN][1000 genomes]
rs2151756	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2153482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902378	1.00[ASN][1000 genomes]
rs4902379	1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs4902380	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4902381	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4902382	1.00[MEX][hapmap]
rs4902384	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55714222	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55759426	1.00[ASN][1000 genomes]
rs55780087	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55793205	1.00[ASN][1000 genomes]
rs55865853	1.00[ASN][1000 genomes]
rs55888656	1.00[ASN][1000 genomes]
rs55911819	1.00[ASN][1000 genomes]
rs55917158	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55948453	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56030127	1.00[ASN][1000 genomes]
rs56152095	1.00[ASN][1000 genomes]
rs56158541	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56191137	1.00[ASN][1000 genomes]
rs56348725	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56682283	1.00[ASN][1000 genomes]
rs61987805	1.00[ASN][1000 genomes]
rs61987837	1.00[ASN][1000 genomes]
rs61987838	1.00[ASN][1000 genomes]
rs61987841	1.00[ASN][1000 genomes]
rs61987844	1.00[ASN][1000 genomes]
rs61987845	1.00[ASN][1000 genomes]
rs61987846	1.00[ASN][1000 genomes]
rs61987847	1.00[ASN][1000 genomes]
rs61987851	1.00[ASN][1000 genomes]
rs61987852	1.00[ASN][1000 genomes]
rs61987853	1.00[ASN][1000 genomes]
rs61987854	1.00[ASN][1000 genomes]
rs61987855	1.00[ASN][1000 genomes]
rs61987856	1.00[ASN][1000 genomes]
rs61987857	1.00[ASN][1000 genomes]
rs61987858	1.00[ASN][1000 genomes]
rs61987859	1.00[ASN][1000 genomes]
rs61988960	1.00[ASN][1000 genomes]
rs61988961	1.00[ASN][1000 genomes]
rs61988962	1.00[ASN][1000 genomes]
rs61988967	1.00[ASN][1000 genomes]
rs61988970	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61989027	1.00[ASN][1000 genomes]
rs61989030	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61989032	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61989036	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61989057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61989059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61989961	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61989962	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61989963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61989964	1.00[ASN][1000 genomes]
rs61989967	0.92[EUR][1000 genomes]
rs61989969	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61989970	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61989971	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61989973	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61989974	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61989975	1.00[ASN][1000 genomes]
rs61989977	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61989993	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61989998	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990000	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990002	0.81[EUR][1000 genomes]
rs61990023	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990026	1.00[ASN][1000 genomes]
rs61990027	1.00[ASN][1000 genomes]
rs6573606	1.00[ASN][1000 genomes]
rs7143112	1.00[CHB][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs7147344	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7150782	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7156029	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7159582	1.00[ASN][1000 genomes]
rs7160754	0.89[EUR][1000 genomes]
rs7161058	1.00[ASN][1000 genomes]
rs746835	1.00[CHB][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8003093	1.00[ASN][1000 genomes]
rs8004507	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8005892	1.00[CHB][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8013585	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8018695	1.00[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	nsv832817	chr14:65637069-65810406	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
2	nsv832818	chr14:65706859-65882320	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
4	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
5	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65796000-65807200	Enhancers	Placenta	Placenta
2	chr14:65801600-65805800	Enhancers	Duodenum Mucosa	Duodenum
3	chr14:65803400-65806600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr14:65803400-65806600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr14:65803400-65806800	Weak transcription	Gastric	stomach
6	chr14:65803400-65811600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr14:65803400-65813200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr14:65803400-65813200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr14:65803400-65813400	Weak transcription	NHLF	lung
10	chr14:65803400-65821000	Weak transcription	Esophagus	oesophagus
11	chr14:65803600-65806800	Weak transcription	NHDF-Ad	bronchial
12	chr14:65805000-65805800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr14:65805400-65806400	Weak transcription	Fetal Intestine Large	intestine
14	chr14:65805400-65806400	Weak transcription	Stomach Mucosa	stomach
15	chr14:65805400-65806600	Weak transcription	Fetal Intestine Small	intestine

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