Variant report

Variant	rs4906395
Chromosome Location	chr14:104448221-104448222
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	STAT3	chr14:104448078-104448301	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:104447828..104450385-chr14:104462611..104464716,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000264439	TF binding region

Extended variants
information (count: 114 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs10132127	0.85[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10132153	1.00[ASW][hapmap];0.85[CEU][hapmap];0.93[GIH][hapmap];1.00[LWK][hapmap];0.83[MEX][hapmap];0.82[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10135296	1.00[ASW][hapmap];0.93[GIH][hapmap];1.00[LWK][hapmap];0.83[MEX][hapmap];0.82[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10135507	0.86[GIH][hapmap];0.83[JPT][hapmap];0.83[MEX][hapmap]
rs10139271	0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10139483	0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10143030	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs10143389	0.82[CEU][hapmap];0.83[MEX][hapmap];0.84[EUR][1000 genomes]
rs10147923	0.82[CEU][hapmap];0.86[GIH][hapmap];0.83[MEX][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10149351	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10149630	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.90[YRI][hapmap];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10149734	0.88[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs10467890	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.81[JPT][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11160773	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.90[YRI][hapmap];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11160777	0.83[EUR][1000 genomes]
rs11160778	0.92[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];0.81[JPT][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11160779	0.86[GIH][hapmap];0.83[MEX][hapmap]
rs11160783	0.81[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.86[TSI][hapmap]
rs11160784	0.89[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];0.81[JPT][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11623042	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11625083	0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11626187	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11626960	0.89[CEU][hapmap];0.95[CHB][hapmap];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11627072	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11628540	0.92[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11628592	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11628717	0.92[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];0.81[JPT][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11847797	0.84[EUR][1000 genomes]
rs11851097	0.85[CEU][hapmap];0.93[GIH][hapmap];0.86[LWK][hapmap];0.83[MEX][hapmap];0.80[MKK][hapmap];0.86[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12100528	0.96[YRI][hapmap];0.84[EUR][1000 genomes]
rs12147460	0.82[CEU][hapmap];0.86[GIH][hapmap];0.83[MEX][hapmap];0.82[EUR][1000 genomes]
rs12147828	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12147936	0.80[EUR][1000 genomes]
rs12589388	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12589390	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12885482	0.84[ASN][1000 genomes]
rs12886010	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12890969	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12895187	0.92[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12896676	0.92[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];0.81[JPT][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1309320	0.84[EUR][1000 genomes]
rs1744263	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1744266	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1770997	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1770998	0.89[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.84[GIH][hapmap];0.81[JPT][hapmap];0.86[TSI][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1771002	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1957517	0.99[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1957518	0.84[EUR][1000 genomes]
rs2146241	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2208431	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.81[JPT][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2263014	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2273842	0.92[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];0.81[JPT][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28391043	0.80[EUR][1000 genomes]
rs28505294	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28574832	0.82[EUR][1000 genomes]
rs28592598	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2887389	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4900604	0.86[GIH][hapmap];0.83[MEX][hapmap];0.82[EUR][1000 genomes]
rs4900605	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs4900607	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];0.95[TSI][hapmap];0.90[YRI][hapmap];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4906389	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4906391	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4906392	0.85[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4906396	0.84[EUR][1000 genomes]
rs4906397	0.81[EUR][1000 genomes]
rs4906399	0.80[EUR][1000 genomes]
rs4906401	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4906402	1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs55938939	0.82[EUR][1000 genomes]
rs58289480	0.84[EUR][1000 genomes]
rs61248168	0.84[EUR][1000 genomes]
rs61319604	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs6576017	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7143739	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7144813	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7145703	0.92[CEU][hapmap];0.90[CHB][hapmap];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7147107	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7148877	0.82[CEU][hapmap]
rs7149412	0.85[CEU][hapmap];0.87[CHB][hapmap];0.95[TSI][hapmap];0.81[EUR][1000 genomes]
rs7150461	0.84[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.89[GIH][hapmap];0.88[TSI][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7152856	0.92[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.90[EUR][1000 genomes]
rs7154082	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7156122	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7158223	0.96[YRI][hapmap];0.83[EUR][1000 genomes]
rs7160557	0.92[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.89[YRI][hapmap];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7161468	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72712884	0.81[EUR][1000 genomes]
rs72712889	0.97[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs72712900	0.84[EUR][1000 genomes]
rs72714904	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs74089113	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8003075	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8008510	0.82[CEU][hapmap];0.88[EUR][1000 genomes]
rs8009349	0.87[EUR][1000 genomes]
rs8010286	0.86[GIH][hapmap];0.83[MEX][hapmap];0.80[EUR][1000 genomes]
rs8014546	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs8022833	0.99[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs877009	0.81[CEU][hapmap];0.93[YRI][hapmap];0.82[EUR][1000 genomes]
rs9285602	0.82[CEU][hapmap];0.86[GIH][hapmap];0.83[MEX][hapmap]
rs9324066	0.85[EUR][1000 genomes]
rs9324068	0.92[CEU][hapmap];0.89[GIH][hapmap];0.89[JPT][hapmap];0.82[TSI][hapmap]
rs9324069	0.82[CEU][hapmap];0.86[GIH][hapmap];0.83[MEX][hapmap]
rs9671921	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[YRI][hapmap];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045162	chr14:104140525-104594841	Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv542204	chr14:104140525-104594841	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv902318	chr14:104255083-104464809	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv902319	chr14:104255083-104620077	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	64 gene(s)	inside rSNPs	diseases
5	nsv1048353	chr14:104361402-104483286	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv902322	chr14:104365310-104464809	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv902323	chr14:104381687-104464809	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv902324	chr14:104399640-104464809	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1049690	chr14:104411621-104575838	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv542208	chr14:104411621-104575838	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv526680	chr14:104427043-104568472	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4906395	C14orf180	cis	cerebellum	SCAN
rs4906395	TDRD9	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104446400-104450400	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr14:104447400-104448800	Strong transcription	Monocytes-CD14+_RO01746	blood

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