Variant report

Variant	rs10515232
Chromosome Location	chr5:95310985-95310986
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	FOXA1	chr5:95310867-95311163	T-47D	breast:	n/a	n/a
2	NR2F2	chr5:95310786-95311212	MCF-7	breast:	n/a	n/a
3	FOXA1	chr5:95310825-95311129	T-47D	breast:	n/a	n/a
4	ESR1	chr5:95310819-95311158	T-47D	breast:	n/a	n/a
5	GATA3	chr5:95310698-95311219	MCF-7	breast:	n/a	chr5:95310967-95310975
6	ESR1	chr5:95310774-95311221	T-47D	breast:	n/a	n/a
7	ESR1	chr5:95310816-95311146	T-47D	breast:	n/a	n/a
8	GATA3	chr5:95310743-95311202	T-47D	breast:	n/a	chr5:95310967-95310975
9	GATA3	chr5:95310734-95311205	T-47D	breast:	n/a	chr5:95310967-95310975

No.	Distal block	Cell Line	Cell type
1	chr5:95304291..95306265-chr5:95309546..95312179,2	K562	blood:
2	chr5:95309496..95312774-chr5:95317440..95321403,4	K562	blood:
3	chr5:95294835..95302887-chr5:95306601..95313873,11	K562	blood:

Variant related genes	Relation type
FABP5P5	TF binding region
ENSG00000251314	Chromatin interaction
ENSG00000118985	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10052503	1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[EUR][1000 genomes]
rs10069748	0.83[CHB][hapmap];0.85[CHD][hapmap]
rs10073752	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1057963	0.91[CHB][hapmap];0.88[JPT][hapmap]
rs1057964	0.83[CHB][hapmap];0.83[CHD][hapmap]
rs11738945	0.87[JPT][hapmap]
rs11741590	0.83[CHB][hapmap];0.83[CHD][hapmap]
rs11742959	0.87[JPT][hapmap]
rs11744881	0.91[CHB][hapmap];0.93[CHD][hapmap];0.88[JPT][hapmap]
rs12055262	0.90[EUR][1000 genomes]
rs1423268	0.83[CHB][hapmap]
rs1423269	0.91[CHB][hapmap];0.93[CHD][hapmap];0.88[JPT][hapmap]
rs1458017	0.82[CHB][hapmap]
rs1458018	0.83[CHB][hapmap];0.83[CHD][hapmap]
rs17085249	0.91[CHB][hapmap];0.92[CHD][hapmap];0.88[JPT][hapmap]
rs17085333	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17085428	0.81[JPT][hapmap]
rs1841010	0.83[CHB][hapmap]
rs1862313	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2042340	0.91[CHB][hapmap];0.88[JPT][hapmap]
rs2112566	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2161318	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.93[EUR][1000 genomes]
rs2270554	0.83[CHB][hapmap];0.83[CHD][hapmap]
rs2348984	0.85[CHB][hapmap]
rs2546199	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.93[EUR][1000 genomes]
rs2548594	0.83[CHB][hapmap];0.83[CHD][hapmap]
rs3734131	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3756703	0.81[EUR][1000 genomes]
rs3777162	1.00[CEU][hapmap];0.91[CHB][hapmap];0.83[CHD][hapmap];0.94[EUR][1000 genomes]
rs3777163	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[EUR][1000 genomes]
rs3777165	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3777166	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3777167	0.84[CEU][hapmap]
rs3777168	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3777171	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3777173	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3777175	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3777178	0.88[CEU][hapmap];0.91[CHB][hapmap];0.90[EUR][1000 genomes]
rs3777179	0.88[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.92[YRI][hapmap];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3777183	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs3777184	0.91[CHB][hapmap];0.88[JPT][hapmap];0.81[YRI][hapmap]
rs3777185	0.91[CHB][hapmap];0.90[CHD][hapmap];0.88[JPT][hapmap]
rs3777188	0.91[CHB][hapmap];0.93[CHD][hapmap];0.88[JPT][hapmap]
rs3777189	0.91[CHB][hapmap];0.88[JPT][hapmap]
rs3777190	0.91[CHB][hapmap];0.93[CHD][hapmap];0.88[JPT][hapmap]
rs3777193	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs3777194	0.83[CHB][hapmap];0.83[CHD][hapmap]
rs3777196	0.83[CHB][hapmap];0.83[CHD][hapmap]
rs3777200	0.91[CHB][hapmap];0.93[CHD][hapmap];0.88[JPT][hapmap]
rs3777204	0.83[CHB][hapmap]
rs3815768	0.91[CHB][hapmap];0.92[CHD][hapmap];0.88[JPT][hapmap]
rs3822750	0.80[EUR][1000 genomes]
rs4538631	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs4642392	0.83[CHB][hapmap];0.83[CHD][hapmap]
rs55841351	0.94[EUR][1000 genomes]
rs56002885	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57243277	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57595413	0.94[EUR][1000 genomes]
rs58921760	0.89[EUR][1000 genomes]
rs59307279	0.91[EUR][1000 genomes]
rs6556894	0.93[EUR][1000 genomes]
rs6556898	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6861531	0.89[CEU][hapmap];0.91[CHB][hapmap];0.90[EUR][1000 genomes]
rs6877821	0.93[EUR][1000 genomes]
rs6881355	0.90[EUR][1000 genomes]
rs6881872	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6883880	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6885567	0.83[CHB][hapmap]
rs6889029	0.91[CHB][hapmap];0.90[CHD][hapmap];0.88[JPT][hapmap]
rs6894651	0.94[EUR][1000 genomes]
rs6897997	0.88[EUR][1000 genomes]
rs6898371	0.93[EUR][1000 genomes]
rs6898399	0.93[EUR][1000 genomes]
rs72656689	0.89[EUR][1000 genomes]
rs7700895	0.89[CEU][hapmap];0.91[CHB][hapmap];0.90[EUR][1000 genomes]
rs7705279	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[CHD][hapmap];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7705720	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7710422	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7724599	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs889302	0.83[CHB][hapmap]
rs9314162	0.91[CHB][hapmap];0.81[JPT][hapmap]

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	esv2758003	chr5:95231706-95540433	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	esv2759355	chr5:95231706-95540433	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv823146	chr5:95300912-95453557	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
4	esv2757121	chr5:95304236-95539536	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	esv34203	chr5:95310985-95452324	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10515232	ELL2	cis	multi-tissue	Pritchard

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95298800-95322600	Weak transcription	Pancreas	Pancrea
2	chr5:95307400-95318800	Weak transcription	HepG2	liver
3	chr5:95308800-95311800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:95309000-95311000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr5:95309000-95312000	Enhancers	K562	blood
6	chr5:95309400-95311800	Enhancers	Dnd41	blood
7	chr5:95309600-95311200	Enhancers	Fetal Lung	lung
8	chr5:95309600-95314200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr5:95309800-95311000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:95310400-95312800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr5:95310600-95312200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:95310800-95312400	Weak transcription	HSMM	muscle

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