Variant report

Variant	rs17307156
Chromosome Location	chr21:17121888-17121889
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	IRF1	chr21:17121688-17122231	K562	blood:	n/a	n/a
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	FOS	chr21:17121731-17121924	MCF10A-Er-Src	breast:	n/a	n/a
5	TBL1XR1	chr21:17121461-17122184	K562	blood:	n/a	n/a
6	ARID3A	chr21:17121091-17122489	K562	blood:	n/a	n/a
7	CEBPD	chr21:17121701-17122186	K562	blood:	n/a	n/a
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	SMARCA4	chr21:17121524-17122494	K562	blood:	n/a	n/a
13	MAFK	chr21:17121364-17122261	K562	blood:	n/a	chr21:17121858-17121874 chr21:17121856-17121876 chr21:17121855-17121870 chr21:17121859-17121873
14	BACH1	chr21:17121327-17122205	K562	blood:	n/a	n/a
15	BACH1	chr21:17121462-17122162	H1-hESC	embryonic stem cell:	n/a	n/a
16	KAP1	chr21:17121144-17121972	K562	blood:	n/a	n/a
17	HMGN3	chr21:17121837-17122409	K562	blood:	n/a	n/a
18	TEAD4	chr21:17121642-17122201	K562	blood:	n/a	n/a
19	TEAD4	chr21:17121653-17122151	K562	blood:	n/a	n/a
20	GATA2	chr21:17121712-17122137	K562	blood:	n/a	chr21:17121921-17121942
21	FOS	chr21:17121493-17121946	MCF10A-Er-Src	breast:	n/a	n/a
22	CEBPB	chr21:17121407-17121982	K562	blood:	n/a	chr21:17121592-17121605 chr21:17121593-17121604
23	FOXA2	chr21:17121685-17122003	A549	lung:	n/a	chr21:17121738-17121750
24	EP300	chr21:17121277-17122072	K562	blood:	n/a	n/a
25	MAFK	chr21:17121484-17122131	IMR90	lung:	n/a	chr21:17121858-17121874 chr21:17121856-17121876 chr21:17121855-17121870 chr21:17121859-17121873
26	MAFF	chr21:17121620-17122046	HepG2	liver:	n/a	chr21:17121859-17121873 chr21:17121853-17121871
27	JUND	chr21:17121714-17122356	K562	blood:	n/a	n/a
28	ATF1	chr21:17121788-17121996	K562	blood:	n/a	n/a
29	CTCF	chr21:17121761-17122234	K562	blood:	n/a	n/a
30	FOSL2	chr21:17121764-17122061	MCF-7	breast:	n/a	n/a
31	CEBPB	chr21:17121413-17122023	K562	blood:	n/a	chr21:17121592-17121605 chr21:17121593-17121604
32	GATA1	chr21:17121261-17122460	PBDE	blood:	n/a	chr21:17121668-17121677 chr21:17121668-17121677 chr21:17121921-17121942 chr21:17121667-17121677
33	MAFF	chr21:17121469-17122272	K562	blood:	n/a	chr21:17121859-17121873 chr21:17121853-17121871
34	RCOR1	chr21:17121521-17122185	K562	blood:	n/a	n/a
35	MAFK	chr21:17121510-17122119	HepG2	liver:	n/a	chr21:17121858-17121874 chr21:17121856-17121876 chr21:17121855-17121870 chr21:17121859-17121873
36	RFX5	chr21:17121650-17122114	K562	blood:	n/a	n/a
37	JUN	chr21:17121362-17122012	K562	blood:	n/a	n/a
38	NFE2	chr21:17121700-17122019	K562	blood:	n/a	chr21:17121861-17121870 chr21:17121855-17121870
39	ZMIZ1	chr21:17121547-17122264	K562	blood:	n/a	n/a
40	EP300	chr21:17121462-17122319	K562	blood:	n/a	n/a
41	CCNT2	chr21:17121825-17122071	K562	blood:	n/a	n/a
42	FOXA2	chr21:17121191-17121951	HepG2	liver:	n/a	chr21:17121483-17121495 chr21:17121738-17121750
43	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: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11909953	0.84[CHB][hapmap]
rs13347185	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17241402	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1986788	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2823464	0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2823467	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2823473	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823477	0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2823479	0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2823480	0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2823487	0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2823488	0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28484960	0.81[ASN][1000 genomes]
rs28553297	0.81[ASN][1000 genomes]
rs28730511	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs459684	1.00[LWK][hapmap];0.90[MKK][hapmap]
rs461901	1.00[LWK][hapmap];0.90[MKK][hapmap]
rs55804442	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58134477	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58683309	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60174740	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6517612	0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[TSI][hapmap];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7277813	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7281290	0.84[EUR][1000 genomes]
rs8130607	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[TSI][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8132755	0.81[ASN][1000 genomes]
rs926612	0.92[CHB][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9305754	0.84[CHB][hapmap]
rs9680115	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9977019	0.84[CHB][hapmap]

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

No data

Chromatin state (count:107 , 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	chr21:17114800-17126600	Weak transcription	Aorta	Aorta
9	chr21:17114800-17126600	Weak transcription	NH-A	brain
10	chr21:17115000-17122000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr21:17115000-17126600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr21:17115200-17122200	Weak transcription	HSMM	muscle
13	chr21:17115200-17130000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr21:17115400-17122200	Weak transcription	Psoas Muscle	Psoas
15	chr21:17115400-17122200	Weak transcription	Right Atrium	heart
16	chr21:17115400-17123400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr21:17115400-17145400	Weak transcription	Fetal Thymus	thymus
18	chr21:17115600-17133400	Weak transcription	Dnd41	blood
19	chr21:17115600-17139400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr21:17115800-17125600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr21:17116000-17125400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr21:17116200-17124800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr21:17116200-17139400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr21:17116400-17122000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr21:17116400-17122200	Weak transcription	Ovary	ovary
26	chr21:17116400-17125400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr21:17116600-17122600	Weak transcription	Primary B cells from cord blood	blood
28	chr21:17116600-17124200	Weak transcription	Fetal Muscle Trunk	muscle
29	chr21:17116600-17124800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr21:17116600-17124800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr21:17116600-17125400	Weak transcription	Fetal Muscle Leg	muscle
32	chr21:17116600-17125400	Weak transcription	Fetal Stomach	stomach
33	chr21:17116600-17125400	Weak transcription	Right Ventricle	heart
34	chr21:17116600-17125400	Weak transcription	Thymus	Thymus
35	chr21:17116600-17145400	Weak transcription	Esophagus	oesophagus
36	chr21:17116800-17124800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr21:17117000-17122200	Weak transcription	Pancreas	Pancrea
38	chr21:17117200-17122400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr21:17117400-17125400	Weak transcription	Placenta	Placenta
40	chr21:17117400-17126400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr21:17117600-17122200	Weak transcription	Lung	lung
42	chr21:17118000-17122400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr21:17118000-17122600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr21:17119000-17125200	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr21:17119400-17122400	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr21:17119400-17124400	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr21:17119800-17122600	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr21:17120000-17122600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr21:17120000-17122800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr21:17120000-17124400	Enhancers	Primary T killer memory cells from peripheral blood	blood

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