Variant report

Variant	rs17526563
Chromosome Location	chr21:46238459-46238460
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	GABPA	chr21:46237957-46238707	K562	blood:	n/a	n/a
2	POLR2A	chr21:46237778-46238475	HL-60	blood:	n/a	n/a
3	POLR2A	chr21:46237813-46238892	HL-60	blood:	n/a	n/a
4	POLR2A	chr21:46237200-46240136	K562	blood:	n/a	n/a
5	TAF1	chr21:46237744-46238508	HepG2	liver:	n/a	n/a
6	CTCF	chr21:46238414-46238515	GM10248	blood:	n/a	n/a
7	MAX	chr21:46237254-46238593	HepG2	liver:	n/a	chr21:46238032-46238045 chr21:46238298-46238308 chr21:46237471-46237480 chr21:46238123-46238132 chr21:46238034-46238043 chr21:46238034-46238043 chr21:46238033-46238044
8	CHD1	chr21:46238387-46238614	GM12878	blood:	n/a	n/a
9	GTF2F1	chr21:46238431-46238504	K562	blood:	n/a	n/a
10	HA-E2F1	chr21:46237281-46238616	Hela-S3	cervix:	n/a	chr21:46238477-46238487 chr21:46237593-46237607
11	POLR2A	chr21:46237445-46238857	GM19099	blood:	n/a	n/a
12	RUNX3	chr21:46238246-46238502	GM12878	blood:	n/a	n/a
13	CTCF	chr21:46238363-46238479	Fibrobl	skin:	n/a	n/a
14	CTCF	chr21:46238400-46238550	SAEC	small airway:	n/a	n/a
15	SIN3A	chr21:46237299-46238675	H1-hESC	embryonic stem cell:	n/a	chr21:46237586-46237599 chr21:46237537-46237548 chr21:46238033-46238042 chr21:46237688-46237699 chr21:46238473-46238484 chr21:46238035-46238044 chr21:46238535-46238548
16	ZBTB7A	chr21:46237916-46238575	ECC-1	luminal epithelium:	n/a	n/a
17	CTCF	chr21:46238380-46238530	NHEK	skin:	n/a	n/a
18	CTCF	chr21:46238399-46238501	MCF-7	breast:	n/a	n/a
19	POLR2A	chr21:46237402-46238506	ProgFib	skin:	n/a	n/a
20	POLR2A	chr21:46236589-46239537	GM12878	blood:	n/a	n/a
21	RCOR1	chr21:46237931-46238459	K562	blood:	n/a	n/a
22	TAF1	chr21:46237761-46238568	H1-hESC	embryonic stem cell:	n/a	n/a
23	UBTF	chr21:46238169-46238495	K562	blood:	n/a	n/a
24	POLR2A	chr21:46237704-46238516	A549	lung:	n/a	n/a
25	MAX	chr21:46237506-46238460	GM12878	blood:	n/a	chr21:46238032-46238045 chr21:46238298-46238308 chr21:46238123-46238132 chr21:46238034-46238043 chr21:46238034-46238043 chr21:46238033-46238044
26	THAP1	chr21:46237859-46238699	K562	blood:	n/a	n/a
27	POLR2A	chr21:46236858-46238968	GM12892	blood:	n/a	n/a
28	POLR2A	chr21:46237439-46238935	NB4	blood:	n/a	n/a
29	POLR2A	chr21:46237370-46238751	K562	blood:	n/a	n/a
30	CTCF	chr21:46238420-46238570	HMEC	breast:	n/a	n/a
31	MAX	chr21:46237133-46238681	MCF-7	breast:	n/a	chr21:46238032-46238045 chr21:46238298-46238308 chr21:46237471-46237480 chr21:46238123-46238132 chr21:46238034-46238043 chr21:46238034-46238043 chr21:46238033-46238044
32	ZBTB7A	chr21:46237931-46238544	ECC-1	luminal epithelium:	n/a	n/a
33	MAZ	chr21:46237356-46238603	K562	blood:	n/a	chr21:46238032-46238045 chr21:46238298-46238308 chr21:46237471-46237480 chr21:46238123-46238132 chr21:46238034-46238043 chr21:46238034-46238043 chr21:46238033-46238044
34	MXI1	chr21:46237407-46238613	GM12878	blood:	n/a	chr21:46238033-46238042
35	HCFC1	chr21:46237336-46238913	K562	blood:	n/a	n/a
36	MAZ	chr21:46237372-46238546	Hela-S3	cervix:	n/a	chr21:46238032-46238045 chr21:46238298-46238308 chr21:46237471-46237480 chr21:46238123-46238132 chr21:46238034-46238043 chr21:46238034-46238043 chr21:46238033-46238044
37	POLR2A	chr21:46237308-46238460	MCF-7	breast:	n/a	n/a
38	ELF1	chr21:46237943-46238468	K562	blood:	n/a	n/a
39	MAZ	chr21:46237470-46238592	GM12878	blood:	n/a	chr21:46238032-46238045 chr21:46238298-46238308 chr21:46237471-46237480 chr21:46238123-46238132 chr21:46238034-46238043 chr21:46238034-46238043 chr21:46238033-46238044
40	POLR2A	chr21:46237795-46238463	H1-neurons	neurons:	n/a	n/a
41	MAX	chr21:46237461-46238503	K562	blood:	n/a	chr21:46238032-46238045 chr21:46238298-46238308 chr21:46237471-46237480 chr21:46238123-46238132 chr21:46238034-46238043 chr21:46238034-46238043 chr21:46238033-46238044
42	POLR2A	chr21:46236599-46239893	K562	blood:	n/a	n/a
43	POLR2A	chr21:46237380-46238520	GM15510	blood:	n/a	n/a
44	CHD2	chr21:46237316-46238468	GM12878	blood:	n/a	n/a
45	CTCF	chr21:46238360-46238510	GM12868	blood:	n/a	n/a
46	CTCF	chr21:46238380-46238530	HCPEpiC	choroid plexus:	n/a	n/a
47	ELF1	chr21:46237372-46238489	K562	blood:	n/a	chr21:46237533-46237545
48	POLR2A	chr21:46236989-46238762	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr21:46238339-46238518	Spleen_OC	spleen:	n/a	n/a
50	POLR2A	chr21:46237226-46239099	PBDE	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:50092081..50093923-chr21:46237222..46239021,2	MCF-7	breast:
2	chr21:46231216..46239677-chr21:46289090..46295542,14	K562	blood:
3	chr21:46232702..46239829-chr21:46289967..46296620,21	MCF-7	breast:
4	chr21:46231904..46241990-chr21:46492035..46500735,28	K562	blood:
5	chr21:46235954..46239342-chr21:46346367..46350296,5	K562	blood:
6	chr21:46235459..46240790-chr21:46329963..46334235,7	MCF-7	breast:
7	chr21:46236678..46239215-chr21:46284689..46286960,3	MCF-7	breast:
8	chr21:46235517..46239255-chr21:46289829..46295572,6	K562	blood:
9	chr21:46235651..46239241-chr21:46493223..46495632,4	MCF-7	breast:
10	chr21:46231789..46243695-chr21:46286819..46295664,23	MCF-7	breast:
11	chr21:46233435..46239577-chr21:46329843..46334353,8	MCF-7	breast:
12	chr21:46234752..46239628-chr21:46345760..46349592,8	MCF-7	breast:
13	chr21:46234824..46239565-chr21:46284858..46289652,5	K562	blood:
14	chr21:46238172..46240580-chr21:46333314..46335686,2	K562	blood:
15	chr21:46236285..46239693-chr21:46357237..46360614,5	K562	blood:
16	chr21:46235785..46239443-chr21:46357143..46362674,8	MCF-7	breast:
17	chr21:46236918..46239386-chr21:46357793..46361272,3	K562	blood:
18	chr17:56708448..56710403-chr21:46237510..46239366,2	MCF-7	breast:
19	chr21:46231513..46241255-chr21:46492035..46497390,26	K562	blood:
20	chr1:45285250..45286056-chr21:46238038..46238888,2	Hela-S3	cervix:

Variant related genes	Relation type
SUMO3	TF binding region
ENSG00000183255	Chromatin interaction
ENSG00000142546	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000183250	Chromatin interaction
ENSG00000160255	Chromatin interaction
ENSG00000160256	Chromatin interaction
ENSG00000268856	Chromatin interaction
ENSG00000273027	Chromatin interaction
ENSG00000235374	Chromatin interaction
ENSG00000202444	Chromatin interaction
ENSG00000197381	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12626275	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2008604	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs235351	0.81[ASN][1000 genomes]
rs235362	0.81[ASN][1000 genomes]
rs235363	0.81[ASN][1000 genomes]
rs2838682	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2838684	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2838685	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2838694	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2838696	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35627976	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56357729	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7283211	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7283639	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73232962	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73232966	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv913956	chr21:46096964-46279505	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv1062245	chr21:46096964-46332587	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv544478	chr21:46096964-46332587	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv459298	chr21:46223847-46277968	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv587813	chr21:46223847-46277968	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv913963	chr21:46223847-46277968	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	nsv913964	chr21:46223847-46298869	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv913962	chr21:46223847-46321172	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
10	nsv913965	chr21:46223847-46321172	Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
11	nsv1058550	chr21:46227163-46317934	Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
12	nsv913966	chr21:46229393-46261390	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
13	esv3345023	chr21:46236474-46239372	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
14	esv3410893	chr21:46236549-46239397	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17526563	PTTG1IP	cis	lung	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46236600-46238600	Active TSS	Rectal Smooth Muscle	rectum
2	chr21:46236600-46238800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr21:46236600-46239000	Active TSS	Hela-S3	cervix
4	chr21:46236800-46238800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr21:46236800-46238800	Active TSS	HSMM	muscle
6	chr21:46236800-46239000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr21:46236800-46239000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr21:46236800-46239000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr21:46236800-46239000	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr21:46237000-46238600	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr21:46237000-46238600	Active TSS	Left Ventricle	heart
12	chr21:46237000-46238800	Active TSS	H9 Cell Line	embryonic stem cell
13	chr21:46237000-46238800	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr21:46237000-46238800	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr21:46237000-46238800	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr21:46237000-46238800	Active TSS	A549	lung
17	chr21:46237000-46239000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr21:46237200-46238600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr21:46237200-46238600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr21:46237200-46238600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
21	chr21:46237200-46238600	Active TSS	Brain Angular Gyrus	brain
22	chr21:46237200-46238600	Active TSS	Colon Smooth Muscle	Colon
23	chr21:46237200-46238600	Active TSS	Fetal Kidney	kidney
24	chr21:46237200-46238600	Active TSS	Ovary	ovary
25	chr21:46237200-46238600	Active TSS	NHDF-Ad	bronchial
26	chr21:46237200-46238800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr21:46237200-46238800	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr21:46237200-46238800	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr21:46237200-46238800	Active TSS	Brain Cingulate Gyrus	brain
30	chr21:46237200-46238800	Active TSS	Brain Substantia Nigra	brain
31	chr21:46237200-46238800	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr21:46237200-46238800	Active TSS	GM12878-XiMat	blood
33	chr21:46237200-46238800	Active TSS	HSMMtube	muscle
34	chr21:46237200-46239000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr21:46237200-46239000	Active TSS	NHEK	skin
36	chr21:46237400-46238600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr21:46237400-46238600	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr21:46237400-46238600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr21:46237400-46238600	Active TSS	Aorta	Aorta
40	chr21:46237400-46238600	Active TSS	Brain Anterior Caudate	brain
41	chr21:46237400-46238600	Active TSS	Brain Germinal Matrix	brain
42	chr21:46237400-46238600	Active TSS	Gastric	stomach
43	chr21:46237400-46238600	Active TSS	Lung	lung
44	chr21:46237400-46238600	Active TSS	Psoas Muscle	Psoas
45	chr21:46237400-46238600	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr21:46237400-46238600	Active TSS	Right Ventricle	heart
47	chr21:46237400-46238600	Active TSS	Sigmoid Colon	Sigmoid Colon
48	chr21:46237400-46238600	Active TSS	Small Intestine	intestine
49	chr21:46237400-46238600	Active TSS	K562	blood
50	chr21:46237400-46238800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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