Variant report

Variant	rs10482876
Chromosome Location	chr21:17121639-17121640
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	FOXA1	chr21:17121297-17121721	HepG2	liver:	n/a	chr21:17121483-17121495 chr21:17121516-17121531
2	MYC	chr21:17121533-17122070	K562	blood:	n/a	n/a
3	MAFK	chr21:17121526-17122276	Hela-S3	cervix:	n/a	chr21:17121858-17121874 chr21:17121856-17121876 chr21:17121855-17121870 chr21:17121859-17121873
4	TBL1XR1	chr21:17121461-17122184	K562	blood:	n/a	n/a
5	ARID3A	chr21:17121091-17122489	K562	blood:	n/a	n/a
6	FOXA2	chr21:17121366-17121671	HepG2	liver:	n/a	chr21:17121483-17121495
7	CEBPB	chr21:17121416-17121783	Hela-S3	cervix:	n/a	chr21:17121592-17121605 chr21:17121593-17121604
8	CUX1	chr21:17121545-17122281	K562	blood:	n/a	n/a
9	IRF1	chr21:17121545-17122321	K562	blood:	n/a	n/a
10	MAFK	chr21:17121592-17122052	HepG2	liver:	n/a	chr21:17121858-17121874 chr21:17121856-17121876 chr21:17121855-17121870 chr21:17121859-17121873
11	MAFK	chr21:17121610-17122099	H1-hESC	embryonic stem cell:	n/a	chr21:17121858-17121874 chr21:17121856-17121876 chr21:17121855-17121870 chr21:17121859-17121873
12	CEBPB	chr21:17121405-17121785	A549	lung:	n/a	chr21:17121592-17121605 chr21:17121593-17121604
13	SMARCA4	chr21:17121524-17122494	K562	blood:	n/a	n/a
14	FOXA1	chr21:17121375-17121667	HepG2	liver:	n/a	chr21:17121483-17121495 chr21:17121516-17121531
15	MAFK	chr21:17121364-17122261	K562	blood:	n/a	chr21:17121858-17121874 chr21:17121856-17121876 chr21:17121855-17121870 chr21:17121859-17121873
16	CEBPB	chr21:17121415-17121768	IMR90	lung:	n/a	chr21:17121592-17121605 chr21:17121593-17121604
17	BACH1	chr21:17121327-17122205	K562	blood:	n/a	n/a
18	BACH1	chr21:17121462-17122162	H1-hESC	embryonic stem cell:	n/a	n/a
19	KAP1	chr21:17121144-17121972	K562	blood:	n/a	n/a
20	MYC	chr21:17121457-17121657	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr21:17121639-17121795	MCF10A-Er-Src	breast:	n/a	n/a
22	FOXA1	chr21:17121300-17121763	HepG2	liver:	n/a	chr21:17121483-17121495 chr21:17121516-17121531 chr21:17121738-17121750
23	FOS	chr21:17121493-17121946	MCF10A-Er-Src	breast:	n/a	n/a
24	FOXA2	chr21:17121363-17121649	A549	lung:	n/a	chr21:17121483-17121495
25	CEBPB	chr21:17121407-17121982	K562	blood:	n/a	chr21:17121592-17121605 chr21:17121593-17121604
26	EP300	chr21:17121277-17122072	K562	blood:	n/a	n/a
27	MAFK	chr21:17121484-17122131	IMR90	lung:	n/a	chr21:17121858-17121874 chr21:17121856-17121876 chr21:17121855-17121870 chr21:17121859-17121873
28	MAFF	chr21:17121620-17122046	HepG2	liver:	n/a	chr21:17121859-17121873 chr21:17121853-17121871
29	ARID3A	chr21:17121292-17121789	HepG2	liver:	n/a	n/a
30	CEBPB	chr21:17121413-17122023	K562	blood:	n/a	chr21:17121592-17121605 chr21:17121593-17121604
31	GATA1	chr21:17121261-17122460	PBDE	blood:	n/a	chr21:17121668-17121677 chr21:17121668-17121677 chr21:17121921-17121942 chr21:17121667-17121677
32	MAFF	chr21:17121469-17122272	K562	blood:	n/a	chr21:17121859-17121873 chr21:17121853-17121871
33	RCOR1	chr21:17121521-17122185	K562	blood:	n/a	n/a
34	MAFK	chr21:17121510-17122119	HepG2	liver:	n/a	chr21:17121858-17121874 chr21:17121856-17121876 chr21:17121855-17121870 chr21:17121859-17121873
35	FOXA1	chr21:17121391-17121719	T-47D	breast:	n/a	chr21:17121483-17121495 chr21:17121516-17121531
36	JUN	chr21:17121362-17122012	K562	blood:	n/a	n/a
37	ZMIZ1	chr21:17121547-17122264	K562	blood:	n/a	n/a
38	EP300	chr21:17121462-17122319	K562	blood:	n/a	n/a
39	FOXA2	chr21:17121191-17121951	HepG2	liver:	n/a	chr21:17121483-17121495 chr21:17121738-17121750
40	CEBPB	chr21:17121410-17121763	HepG2	liver:	n/a	chr21:17121592-17121605 chr21:17121593-17121604
41	TAL1	chr21:17121529-17122323	K562	blood:	n/a	chr21:17122170-17122178

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:17121263..17123662-chr21:17127297..17128832,2	K562	blood:

Variant related genes	Relation type
RBPMSLP	TF binding region

Extended variants
information (count: 87 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10482875	0.83[CEU][hapmap];0.82[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.83[TSI][hapmap];0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11910884	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs1543299	0.91[CEU][hapmap];1.00[GIH][hapmap];0.89[EUR][1000 genomes]
rs17241395	0.81[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17241409	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17241416	1.00[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17241423	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17241430	1.00[CEU][hapmap];0.82[CHB][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17241444	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17241460	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17241481	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17275511	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17307120	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]
rs17307170	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17307176	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[CHD][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17307190	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17307197	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17307204	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2026853	1.00[CEU][hapmap]
rs2205585	0.81[EUR][1000 genomes]
rs2205588	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2223176	0.81[EUR][1000 genomes]
rs2242676	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2242680	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2242681	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2245574	0.91[CEU][hapmap]
rs2404000	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2404001	0.83[CEU][hapmap]
rs2823455	0.91[CEU][hapmap];0.85[CHD][hapmap]
rs2823457	0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs2823462	0.83[CEU][hapmap];0.86[CHD][hapmap];0.85[GIH][hapmap];0.89[JPT][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2823463	0.83[CEU][hapmap];0.86[CHD][hapmap];0.85[GIH][hapmap];0.89[JPT][hapmap];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2823471	1.00[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2823472	1.00[CEU][hapmap]
rs2823478	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs2823481	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2823483	0.92[ASN][1000 genomes]
rs2823484	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2823489	1.00[CEU][hapmap]
rs2823491	1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2823493	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs2823495	0.81[EUR][1000 genomes]
rs2823496	0.81[EUR][1000 genomes]
rs2823498	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2823499	1.00[CEU][hapmap];0.85[TSI][hapmap]
rs2823500	1.00[CEU][hapmap];0.89[JPT][hapmap]
rs2823504	0.91[CEU][hapmap]
rs28627435	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3787577	1.00[CEU][hapmap];0.85[CHD][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4580465	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56299770	0.88[EUR][1000 genomes]
rs56333224	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56410772	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56666611	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57733106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59084861	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59420372	0.85[AMR][1000 genomes]
rs60191002	0.88[EUR][1000 genomes]
rs60529604	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6517609	1.00[CEU][hapmap]
rs6517613	1.00[CEU][hapmap]
rs6517648	1.00[CEU][hapmap]
rs6517652	1.00[CEU][hapmap]
rs7277807	0.83[CEU][hapmap];0.86[CHD][hapmap];0.85[GIH][hapmap];0.89[JPT][hapmap];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7278428	0.83[CEU][hapmap];0.86[CHD][hapmap];0.85[GIH][hapmap];0.82[ASN][1000 genomes]
rs7281511	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs7282314	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7283707	1.00[CEU][hapmap]
rs7283764	0.83[CEU][hapmap];0.88[EUR][1000 genomes]
rs73181987	0.91[EUR][1000 genomes]
rs73346769	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73355479	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73357260	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73892510	0.89[ASN][1000 genomes]
rs8127158	1.00[CEU][hapmap]
rs8128073	0.82[EUR][1000 genomes]
rs8133079	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8134327	0.91[CEU][hapmap]
rs9981766	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	esv1815433	chr21:17106192-17167353	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10482876	EPHB1	trans	lymphoblastoid	seeQTL

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17104200-17133400	Weak transcription	Colonic Mucosa	Colon
2	chr21:17104600-17123400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr21:17105400-17125200	Weak transcription	Brain Substantia Nigra	brain
4	chr21:17112800-17123400	Weak transcription	Brain Hippocampus Middle	brain
5	chr21:17113400-17123600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr21:17113400-17124800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr21:17114600-17123800	Weak transcription	Brain Anterior Caudate	brain
8	chr21:17114800-17121800	Weak transcription	Osteobl	bone
9	chr21:17114800-17126600	Weak transcription	Aorta	Aorta
10	chr21:17114800-17126600	Weak transcription	NH-A	brain
11	chr21:17115000-17122000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr21:17115000-17126600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr21:17115200-17122200	Weak transcription	HSMM	muscle
14	chr21:17115200-17130000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr21:17115400-17122200	Weak transcription	Psoas Muscle	Psoas
16	chr21:17115400-17122200	Weak transcription	Right Atrium	heart
17	chr21:17115400-17123400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr21:17115400-17145400	Weak transcription	Fetal Thymus	thymus
19	chr21:17115600-17133400	Weak transcription	Dnd41	blood
20	chr21:17115600-17139400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr21:17115800-17125600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr21:17116000-17125400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr21:17116200-17121800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr21:17116200-17124800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr21:17116200-17139400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr21:17116400-17121800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr21:17116400-17122000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr21:17116400-17122200	Weak transcription	Ovary	ovary
29	chr21:17116400-17125400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr21:17116600-17122600	Weak transcription	Primary B cells from cord blood	blood
31	chr21:17116600-17124200	Weak transcription	Fetal Muscle Trunk	muscle
32	chr21:17116600-17124800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr21:17116600-17124800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr21:17116600-17125400	Weak transcription	Fetal Muscle Leg	muscle
35	chr21:17116600-17125400	Weak transcription	Fetal Stomach	stomach
36	chr21:17116600-17125400	Weak transcription	Right Ventricle	heart
37	chr21:17116600-17125400	Weak transcription	Thymus	Thymus
38	chr21:17116600-17145400	Weak transcription	Esophagus	oesophagus
39	chr21:17116800-17124800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr21:17117000-17122200	Weak transcription	Pancreas	Pancrea
41	chr21:17117200-17122400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr21:17117400-17125400	Weak transcription	Placenta	Placenta
43	chr21:17117400-17126400	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr21:17117600-17122200	Weak transcription	Lung	lung
45	chr21:17118000-17122400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr21:17118000-17122600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr21:17119000-17125200	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr21:17119400-17122400	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr21:17119400-17124400	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr21:17119800-17122600	Enhancers	Primary T helper cells PMA-I stimulated	--

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