Variant report

Variant	rs17307120
Chromosome Location	chr21:17079346-17079347
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	FOSL1	chr21:17078891-17079609	HCT-116	colon:	n/a	chr21:17079367-17079377 chr21:17079156-17079165 chr21:17079367-17079377 chr21:17079368-17079376 chr21:17079366-17079378 chr21:17079082-17079093
2	SP1	chr21:17078912-17079535	HCT-116	colon:	n/a	n/a
3	FOXA1	chr21:17078980-17079357	ECC-1	luminal epithelium:	n/a	n/a
4	ATF1	chr21:17079030-17079390	K562	blood:	n/a	n/a
5	TEAD4	chr21:17078908-17079525	ECC-1	luminal epithelium:	n/a	n/a
6	FOS	chr21:17078923-17079529	MCF10A-Er-Src	breast:	n/a	chr21:17079367-17079377 chr21:17079156-17079165 chr21:17079367-17079377 chr21:17079368-17079376 chr21:17079154-17079165 chr21:17079366-17079378 chr21:17079082-17079093
7	YY1	chr21:17079058-17079434	ECC-1	luminal epithelium:	n/a	n/a
8	MAX	chr21:17079028-17079381	ECC-1	luminal epithelium:	n/a	chr21:17079368-17079377
9	RCOR1	chr21:17078862-17079580	IMR90	lung:	n/a	n/a
10	NFIC	chr21:17079005-17079568	ECC-1	luminal epithelium:	n/a	chr21:17079264-17079292
11	CBX3	chr21:17078887-17079488	HCT-116	colon:	n/a	n/a
12	FOSL2	chr21:17078861-17079481	MCF-7	breast:	n/a	chr21:17079367-17079377 chr21:17079156-17079165 chr21:17079367-17079377 chr21:17079368-17079376 chr21:17079366-17079378 chr21:17079082-17079093
13	REST	chr21:17078979-17079393	MCF-7	breast:	n/a	n/a
14	GATA3	chr21:17079006-17079512	SK-N-SH	brain:	n/a	chr21:17079369-17079378 chr21:17079084-17079093 chr21:17079366-17079375
15	JUND	chr21:17078899-17079435	MCF-7	breast:	n/a	chr21:17079367-17079377 chr21:17079156-17079165 chr21:17079367-17079377 chr21:17079368-17079376 chr21:17079366-17079378 chr21:17079082-17079093
16	FOSL1	chr21:17078906-17079512	HCT-116	colon:	n/a	chr21:17079367-17079377 chr21:17079156-17079165 chr21:17079367-17079377 chr21:17079368-17079376 chr21:17079366-17079378 chr21:17079082-17079093
17	FOS	chr21:17078945-17079551	HUVEC	blood vessel:	n/a	chr21:17079367-17079377 chr21:17079156-17079165 chr21:17079367-17079377 chr21:17079368-17079376 chr21:17079154-17079165 chr21:17079366-17079378 chr21:17079082-17079093
18	NR2F2	chr21:17078880-17079414	MCF-7	breast:	n/a	n/a
19	JUND	chr21:17078890-17079393	T-47D	breast:	n/a	chr21:17079367-17079377 chr21:17079156-17079165 chr21:17079367-17079377 chr21:17079368-17079376 chr21:17079366-17079378 chr21:17079082-17079093
20	JUND	chr21:17079012-17079388	A549	lung:	n/a	chr21:17079367-17079377 chr21:17079156-17079165 chr21:17079367-17079377 chr21:17079368-17079376 chr21:17079366-17079378 chr21:17079082-17079093
21	NFIC	chr21:17078975-17079530	SK-N-SH	brain:	n/a	chr21:17079264-17079292
22	JUND	chr21:17078863-17079588	HCT-116	colon:	n/a	chr21:17079367-17079377 chr21:17079156-17079165 chr21:17079367-17079377 chr21:17079368-17079376 chr21:17079366-17079378 chr21:17079082-17079093
23	SIN3AK20	chr21:17078961-17079390	HCT-116	colon:	n/a	n/a
24	EP300	chr21:17078957-17079420	T-47D	breast:	n/a	chr21:17078972-17078979 chr21:17079035-17079049
25	CBX3	chr21:17078978-17079442	HCT-116	colon:	n/a	n/a
26	ELF1	chr21:17078867-17079501	MCF-7	breast:	n/a	n/a
27	TCF12	chr21:17078888-17079575	ECC-1	luminal epithelium:	n/a	n/a
28	GATA3	chr21:17078901-17079573	MCF-7	breast:	n/a	chr21:17079369-17079378 chr21:17079084-17079093 chr21:17079366-17079375
29	EP300	chr21:17078948-17079580	SK-N-SH	brain:	n/a	chr21:17078972-17078979 chr21:17079035-17079049
30	ZNF217	chr21:17078945-17079431	MCF-7	breast:	n/a	n/a
31	GATA3	chr21:17078933-17079401	T-47D	breast:	n/a	chr21:17079369-17079378 chr21:17079084-17079093 chr21:17079366-17079375
32	FOSL2	chr21:17078958-17079467	SK-N-SH	brain:	n/a	chr21:17079367-17079377 chr21:17079156-17079165 chr21:17079367-17079377 chr21:17079368-17079376 chr21:17079366-17079378 chr21:17079082-17079093
33	FOXA1	chr21:17078940-17079365	T-47D	breast:	n/a	n/a
34	GATA3	chr21:17078915-17079401	MCF-7	breast:	n/a	chr21:17079369-17079378 chr21:17079084-17079093 chr21:17079366-17079375
35	EP300	chr21:17078870-17079601	ECC-1	luminal epithelium:	n/a	chr21:17078972-17078979 chr21:17079035-17079049
36	NFIC	chr21:17078828-17079595	ECC-1	luminal epithelium:	n/a	chr21:17079264-17079292
37	PBX3	chr21:17078994-17079434	SK-N-SH	brain:	n/a	n/a
38	JUND	chr21:17079008-17079477	MCF-7	breast:	n/a	chr21:17079367-17079377 chr21:17079156-17079165 chr21:17079367-17079377 chr21:17079368-17079376 chr21:17079366-17079378 chr21:17079082-17079093
39	TCF12	chr21:17078879-17079453	A549	lung:	n/a	n/a
40	SP1	chr21:17078802-17079528	HCT-116	colon:	n/a	n/a
41	FOS	chr21:17078944-17079391	MCF10A-Er-Src	breast:	n/a	chr21:17079367-17079377 chr21:17079156-17079165 chr21:17079367-17079377 chr21:17079368-17079376 chr21:17079154-17079165 chr21:17079366-17079378 chr21:17079082-17079093
42	JUND	chr21:17078899-17079497	T-47D	breast:	n/a	chr21:17079367-17079377 chr21:17079156-17079165 chr21:17079367-17079377 chr21:17079368-17079376 chr21:17079366-17079378 chr21:17079082-17079093
43	SRF	chr21:17078937-17079449	ECC-1	luminal epithelium:	n/a	n/a
44	MYC	chr21:17078993-17079498	MCF10A-Er-Src	breast:	n/a	chr21:17079368-17079377
45	HDAC2	chr21:17078909-17079448	MCF-7	breast:	n/a	n/a
46	MAFK	chr21:17079054-17079452	IMR90	lung:	n/a	n/a
47	FOSL2	chr21:17078885-17079460	MCF-7	breast:	n/a	chr21:17079367-17079377 chr21:17079156-17079165 chr21:17079367-17079377 chr21:17079368-17079376 chr21:17079366-17079378 chr21:17079082-17079093
48	TEAD4	chr21:17078906-17079455	ECC-1	luminal epithelium:	n/a	n/a
49	EP300	chr21:17079059-17079492	ECC-1	luminal epithelium:	n/a	n/a
50	STAT3	chr21:17078988-17079389	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:17077309..17079464-chr21:17110319..17112790,2	K562	blood:

Variant related genes	Relation type
ENSG00000238591	TF binding region

Extended variants
information (count: 82 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10482875	1.00[ASW][hapmap];0.83[CEU][hapmap];0.82[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];1.00[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10482876	0.83[CEU][hapmap];0.86[CHD][hapmap];0.85[GIH][hapmap];0.89[JPT][hapmap];0.83[TSI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11910884	0.81[CEU][hapmap]
rs1543299	0.91[CEU][hapmap];0.85[GIH][hapmap];0.92[TSI][hapmap];0.89[EUR][1000 genomes]
rs17241395	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.87[GIH][hapmap];0.89[JPT][hapmap];1.00[LWK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs17241409	0.83[EUR][1000 genomes]
rs17241416	0.83[CEU][hapmap];0.85[CHB][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17241423	1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17241430	0.83[CEU][hapmap];0.83[EUR][1000 genomes]
rs17241444	0.83[CEU][hapmap];0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17307170	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17307176	0.83[CEU][hapmap];0.83[TSI][hapmap]
rs17307190	0.86[AMR][1000 genomes]
rs2026853	0.83[CEU][hapmap]
rs2205588	0.86[AMR][1000 genomes]
rs2242676	0.83[CEU][hapmap];0.83[EUR][1000 genomes]
rs2242680	0.86[AMR][1000 genomes]
rs2242681	0.86[AMR][1000 genomes]
rs2404000	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2823452	0.85[CEU][hapmap]
rs2823453	0.92[CEU][hapmap]
rs2823455	0.91[CEU][hapmap];0.82[CHB][hapmap];0.86[CHD][hapmap];0.91[TSI][hapmap]
rs2823457	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2823462	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2823463	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2823471	0.83[CEU][hapmap];0.85[CHB][hapmap];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2823472	0.83[CEU][hapmap]
rs2823478	0.83[CEU][hapmap];0.85[GIH][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes]
rs2823481	0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs2823483	0.83[ASN][1000 genomes]
rs2823484	0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs2823489	0.83[CEU][hapmap]
rs2823491	0.83[CEU][hapmap];0.85[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];0.89[JPT][hapmap];0.83[TSI][hapmap];0.83[ASN][1000 genomes]
rs2823493	0.83[CEU][hapmap]
rs2823498	0.85[ASN][1000 genomes]
rs2823499	0.83[CEU][hapmap]
rs2823500	0.83[CEU][hapmap]
rs28627435	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3787577	0.83[CEU][hapmap];0.83[TSI][hapmap];0.86[AMR][1000 genomes]
rs460497	0.85[CEU][hapmap]
rs55806628	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56299770	0.88[EUR][1000 genomes]
rs56333224	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56410772	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56666611	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57733106	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57737796	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs59084861	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs59420372	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs60191002	0.88[EUR][1000 genomes]
rs60360638	0.89[EUR][1000 genomes]
rs60529604	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6517609	0.83[CEU][hapmap]
rs6517613	0.83[CEU][hapmap]
rs6517648	0.83[CEU][hapmap]
rs6517652	0.83[CEU][hapmap]
rs7277807	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7278428	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.85[TSI][hapmap];0.85[ASN][1000 genomes]
rs7281511	0.83[CEU][hapmap]
rs7282314	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7283707	0.83[CEU][hapmap]
rs7283764	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[EUR][1000 genomes]
rs73181987	0.91[EUR][1000 genomes]
rs73355479	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73357260	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73892510	0.98[ASN][1000 genomes]
rs8127158	0.83[CEU][hapmap]
rs8134327	0.91[CEU][hapmap]
rs9983542	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758530	chr21:16912646-17096678	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2758810	chr21:16912646-17096678	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2762093	chr21:16948663-17145770	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1064683	chr21:16954570-17145758	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv459099	chr21:16956866-17145011	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv587076	chr21:16956866-17145011	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1062105	chr21:16956885-17141961	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv544380	chr21:16956885-17141961	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv1059500	chr21:16957752-17145758	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	esv2830057	chr21:16960590-17113148	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv1056833	chr21:17018524-17086705	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	esv1844987	chr21:17033833-17088977	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv1060139	chr21:17057044-17100275	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17307120	EPHB1	trans	lymphoblastoid	seeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17078800-17080000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr21:17079000-17079600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr21:17079000-17079600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr21:17079000-17079600	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr21:17079000-17079600	Enhancers	NHEK	skin
6	chr21:17079000-17079800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr21:17079000-17080000	Enhancers	Muscle Satellite Cultured Cells	--
8	chr21:17079000-17080000	Enhancers	HUVEC	blood vessel
9	chr21:17079200-17079600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr21:17079200-17079600	Enhancers	Placenta Amnion	Placenta Amnion
11	chr21:17079200-17079600	Enhancers	A549	lung
12	chr21:17079200-17079800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr21:17079200-17079800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr21:17079200-17079800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr21:17079200-17079800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr21:17079200-17079800	Enhancers	HSMM	muscle
17	chr21:17079200-17079800	Enhancers	HSMMtube	muscle
18	chr21:17079200-17079800	Enhancers	NHLF	lung
19	chr21:17079200-17080000	Enhancers	HMEC	breast
20	chr21:17079200-17080000	Enhancers	Osteobl	bone
21	chr21:17079200-17080800	Enhancers	Stomach Mucosa	stomach

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