Variant report

Variant	rs2650923
Chromosome Location	chr5:17344236-17344237
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	KAP1	chr5:17343727-17344393	U2OS	brain:	n/a	chr5:17343998-17344007
2	JUN	chr5:17343692-17344341	K562	blood:	n/a	chr5:17343999-17344008 chr5:17344000-17344009 chr5:17344001-17344012 chr5:17344000-17344007 chr5:17343998-17344010 chr5:17343999-17344009
3	SP1	chr5:17343669-17344424	A549	lung:	n/a	n/a
4	SP1	chr5:17343709-17344381	A549	lung:	n/a	n/a
5	HDAC2	chr5:17343809-17344279	MCF-7	breast:	n/a	chr5:17343980-17343989
6	JUN	chr5:17343736-17344236	Hela-S3	cervix:	n/a	chr5:17343999-17344008 chr5:17344000-17344009 chr5:17344001-17344012 chr5:17344000-17344007 chr5:17343998-17344010 chr5:17343999-17344009
7	FOXA2	chr5:17343780-17344255	A549	lung:	n/a	chr5:17343977-17343989
8	MAX	chr5:17343770-17344266	Hela-S3	cervix:	n/a	n/a
9	MAX	chr5:17343616-17344536	A549	lung:	n/a	n/a
10	MAFK	chr5:17343787-17344443	Hela-S3	cervix:	n/a	chr5:17343998-17344007
11	EP300	chr5:17343602-17344519	A549	lung:	n/a	chr5:17344000-17344009 chr5:17343980-17343990
12	EBF1	chr5:17343794-17344241	GM12878	blood:	n/a	chr5:17344013-17344022 chr5:17344011-17344024 chr5:17344013-17344022 chr5:17344012-17344022 chr5:17344011-17344022
13	FOXA2	chr5:17343725-17344265	A549	lung:	n/a	chr5:17343977-17343989
14	FOSL2	chr5:17343683-17344285	MCF-7	breast:	n/a	chr5:17343997-17344008 chr5:17343999-17344008 chr5:17344000-17344009 chr5:17344001-17344012 chr5:17344000-17344007 chr5:17343998-17344010 chr5:17343999-17344009
15	MAX	chr5:17343804-17344279	Hela-S3	cervix:	n/a	n/a
16	RCOR1	chr5:17343803-17344247	GM12878	blood:	n/a	n/a
17	WRNIP1	chr5:17343766-17344245	GM12878	blood:	n/a	n/a
18	FOSL2	chr5:17343633-17344480	A549	lung:	n/a	chr5:17343997-17344008 chr5:17343999-17344008 chr5:17344000-17344009 chr5:17344001-17344012 chr5:17344000-17344007 chr5:17343998-17344010 chr5:17343999-17344009
19	GATA3	chr5:17343593-17344598	A549	lung:	n/a	chr5:17344001-17344010
20	JUND	chr5:17343643-17344376	GM12878	blood:	n/a	chr5:17343999-17344008 chr5:17344000-17344009 chr5:17344001-17344012 chr5:17344000-17344007 chr5:17343998-17344010 chr5:17343999-17344009 chr5:17343998-17344009
21	YY1	chr5:17343810-17344242	A549	lung:	n/a	n/a
22	YY1	chr5:17343880-17344248	GM12878	blood:	n/a	n/a
23	JUND	chr5:17343819-17344363	MCF-7	breast:	n/a	chr5:17343999-17344008 chr5:17344000-17344009 chr5:17344001-17344012 chr5:17344000-17344007 chr5:17343998-17344010 chr5:17343999-17344009 chr5:17343998-17344009
24	FOS	chr5:17343759-17344357	HUVEC	blood vessel:	n/a	chr5:17343998-17344009 chr5:17343999-17344008 chr5:17344000-17344009 chr5:17344001-17344012 chr5:17344000-17344007 chr5:17343998-17344010 chr5:17343999-17344009
25	FOSL2	chr5:17343815-17344239	A549	lung:	n/a	chr5:17343997-17344008 chr5:17343999-17344008 chr5:17344000-17344009 chr5:17344001-17344012 chr5:17344000-17344007 chr5:17343998-17344010 chr5:17343999-17344009
26	KAP1	chr5:17343738-17344445	HEK293	kidney:	n/a	chr5:17343998-17344007
27	TCF12	chr5:17343566-17344489	A549	lung:	n/a	n/a
28	JUND	chr5:17343783-17344246	A549	lung:	n/a	chr5:17343999-17344008 chr5:17344000-17344009 chr5:17344001-17344012 chr5:17344000-17344007 chr5:17343998-17344010 chr5:17343999-17344009 chr5:17343998-17344009
29	EP300	chr5:17343630-17344521	A549	lung:	n/a	chr5:17344000-17344009 chr5:17343980-17343990
30	GTF2F1	chr5:17343762-17344238	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
RN7SKP133	TF binding region

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10074496	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10462609	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11950287	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13355635	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16869688	0.90[JPT][hapmap]
rs16869690	0.90[JPT][hapmap];0.87[TSI][hapmap]
rs182441	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1827400	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2134241	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2134242	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2173968	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2454946	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2459811	1.00[ASW][hapmap];0.83[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.94[TSI][hapmap];0.94[YRI][hapmap]
rs2650935	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2650936	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2650937	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2650938	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2650939	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2650940	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2650942	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2650943	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2650944	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2650945	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2652638	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2652639	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2652640	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2652641	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2652643	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2652644	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2652645	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2652646	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2652647	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2652648	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28476505	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs298530	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs298531	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs298532	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs298534	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs298535	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs298536	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs298546	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs298547	1.00[ASW][hapmap];0.83[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs298548	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs298550	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs298558	1.00[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs298559	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs298560	0.83[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs298562	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs299384	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs299385	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs299386	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56663279	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56705013	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58062922	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58468495	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6862515	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6874823	0.90[JPT][hapmap]
rs73052871	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73052881	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73052887	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73052888	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73052898	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73052901	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73054809	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73054823	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7719794	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029959	chr5:17133214-17455995	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv461988	chr5:17296342-17484038	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv597313	chr5:17296342-17484038	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv830219	chr5:17325802-17518914	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	esv2763872	chr5:17342482-17358269	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
6	esv3432739	chr5:17342737-17357177	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
7	esv19164	chr5:17342748-17357008	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17343400-17344400	Enhancers	Primary B cells from peripheral blood	blood
2	chr5:17343600-17344400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:17343600-17344400	Enhancers	Stomach Mucosa	stomach
4	chr5:17343600-17344400	Flanking Active TSS	A549	lung
5	chr5:17343600-17344400	Enhancers	HUVEC	blood vessel
6	chr5:17343600-17344400	Enhancers	Osteobl	bone
7	chr5:17343600-17344800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr5:17343800-17344400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr5:17343800-17344400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:17343800-17344400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr5:17343800-17344400	Enhancers	Placenta	Placenta
12	chr5:17343800-17344400	Flanking Active TSS	Hela-S3	cervix
13	chr5:17343800-17344800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:17344000-17344400	Enhancers	GM12878-XiMat	blood
15	chr5:17344000-17346800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:17344200-17346600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:17344200-17346800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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