Variant report

Variant	rs9314229
Chromosome Location	chr5:92408919-92408920
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	EP300	chr5:92408608-92409148	SK-N-SH_RA	brain:	n/a	chr5:92408981-92408990
2	NFIC	chr5:92408563-92409385	SK-N-SH	brain:	n/a	n/a
3	GATA3	chr5:92408647-92409726	SK-N-SH	brain:	n/a	chr5:92409461-92409478 chr5:92409688-92409698
4	FOS	chr5:92408782-92409383	HUVEC	blood vessel:	n/a	chr5:92408981-92408988 chr5:92408981-92408990 chr5:92408979-92408991 chr5:92408979-92408990 chr5:92409368-92409377
5	EP300	chr5:92408644-92409337	SK-N-SH	brain:	n/a	chr5:92408981-92408990
6	FOS	chr5:92408802-92409162	MCF10A-Er-Src	breast:	n/a	chr5:92408981-92408988 chr5:92408981-92408990 chr5:92408979-92408991 chr5:92408979-92408990
7	EP300	chr5:92408643-92409178	SK-N-SH_RA	brain:	n/a	chr5:92408981-92408990
8	FOSL2	chr5:92408666-92409231	SK-N-SH	brain:	n/a	chr5:92408981-92408988 chr5:92408981-92408990 chr5:92408979-92408991
9	POLR2A	chr5:92408758-92409145	SK-N-SH	brain:	n/a	n/a
10	FOS	chr5:92408779-92409165	MCF10A-Er-Src	breast:	n/a	chr5:92408981-92408988 chr5:92408981-92408990 chr5:92408979-92408991 chr5:92408979-92408990
11	JUND	chr5:92408651-92409286	SK-N-SH	brain:	n/a	chr5:92408981-92408988 chr5:92408981-92408990 chr5:92408979-92408991
12	MYC	chr5:92408722-92409008	MCF10A-Er-Src	breast:	n/a	n/a
13	GATA3	chr5:92408617-92409754	SK-N-SH	brain:	n/a	chr5:92409461-92409478 chr5:92409688-92409698
14	RAD21	chr5:92408665-92409041	SK-N-SH_RA	brain:	n/a	n/a
15	FOS	chr5:92408771-92409172	MCF10A-Er-Src	breast:	n/a	chr5:92408981-92408988 chr5:92408981-92408990 chr5:92408979-92408991 chr5:92408979-92408990
16	TCF12	chr5:92408539-92409607	SK-N-SH	brain:	n/a	n/a
17	FOS	chr5:92408761-92409178	MCF10A-Er-Src	breast:	n/a	chr5:92408981-92408988 chr5:92408981-92408990 chr5:92408979-92408991 chr5:92408979-92408990
18	TCF12	chr5:92408584-92409357	SK-N-SH	brain:	n/a	n/a
19	STAT3	chr5:92408828-92409013	MCF10A-Er-Src	breast:	n/a	chr5:92408980-92408989
20	CEBPB	chr5:92408831-92409141	IMR90	lung:	n/a	n/a
21	E2F4	chr5:92408856-92409083	MCF10A-Er-Src	breast:	n/a	n/a
22	PBX3	chr5:92408605-92409245	SK-N-SH	brain:	n/a	chr5:92408813-92408833
23	JUND	chr5:92408637-92409571	SK-N-SH	brain:	n/a	chr5:92408981-92408988 chr5:92408981-92408990 chr5:92408979-92408991 chr5:92409368-92409377
24	JUND	chr5:92408745-92409299	SK-N-SH	brain:	n/a	chr5:92408981-92408988 chr5:92408981-92408990 chr5:92408979-92408991
25	RAD21	chr5:92408782-92409071	SK-N-SH_RA	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000251361	TF binding region

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1027429	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1027430	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10514368	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10514369	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1075873	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11951873	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11958890	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12514052	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12514544	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12515643	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12523622	0.98[ASN][1000 genomes]
rs1390614	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1496336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1496338	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1496339	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1496341	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1603407	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17082878	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17082886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1845837	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1845838	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1845839	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1961168	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2017806	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2132535	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2173008	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2342063	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2438470	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2578487	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2578488	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2578489	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2578491	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2578492	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2578493	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2644787	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34524	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3925782	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4301219	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56993733	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57308733	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58430736	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59564433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59998698	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60548086	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6557059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67020389	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67939833	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs68112398	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6861529	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6866281	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6870541	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7732596	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7735078	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9314230	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs990959	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs991235	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs995626	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs998492	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015770	chr5:91911877-92498264	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1022712	chr5:92191693-92415111	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1028930	chr5:92194772-92415111	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv830399	chr5:92290915-92462490	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:92402000-92414200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:92402800-92409000	Weak transcription	HSMM	muscle
3	chr5:92405000-92413800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:92405600-92413400	Weak transcription	Ovary	ovary
5	chr5:92407000-92412400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:92408000-92409000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr5:92408200-92409600	Enhancers	NHLF	lung
8	chr5:92408200-92410000	Enhancers	HMEC	breast
9	chr5:92408200-92413000	Weak transcription	GM12878-XiMat	blood
10	chr5:92408400-92409600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:92408600-92409600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:92408600-92409600	Enhancers	HUVEC	blood vessel
13	chr5:92408600-92409600	Enhancers	NHEK	skin
14	chr5:92408600-92410600	Enhancers	Osteobl	bone
15	chr5:92408600-92410800	Enhancers	NHDF-Ad	bronchial
16	chr5:92408800-92409400	Enhancers	Fetal Lung	lung

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