Variant report

Variant	rs34892632
Chromosome Location	chr20:13620126-13620127
allele	C/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	MXI1	chr20:13618825-13620216	IMR90	lung:	n/a	chr20:13619646-13619655
2	SP1	chr20:13619423-13620137	H1-hESC	embryonic stem cell:	n/a	chr20:13619789-13619801 chr20:13619791-13619800 chr20:13619789-13619801 chr20:13619789-13619800 chr20:13619790-13619800 chr20:13619597-13619611 chr20:13619790-13619799 chr20:13619682-13619694 chr20:13619790-13619799
3	TCF12	chr20:13618865-13620194	A549	lung:	n/a	n/a
4	ZEB1	chr20:13618694-13620251	HepG2	liver:	n/a	chr20:13618906-13618917 chr20:13619707-13619714
5	CHD2	chr20:13619292-13620174	GM12878	blood:	n/a	chr20:13619789-13619799
6	POLR2A	chr20:13619112-13620130	GM18505	blood:	n/a	n/a
7	MAX	chr20:13619448-13620167	H1-hESC	embryonic stem cell:	n/a	chr20:13619643-13619656 chr20:13619644-13619655 chr20:13619643-13619658 chr20:13619706-13619717 chr20:13619644-13619653 chr20:13619644-13619654 chr20:13619643-13619656 chr20:13619645-13619655 chr20:13619645-13619655 chr20:13619643-13619656 chr20:13619646-13619655 chr20:13619645-13619654 chr20:13619644-13619655
8	HCFC1	chr20:13618682-13620137	Hela-S3	cervix:	n/a	n/a
9	MAX	chr20:13618871-13620153	MCF-7	breast:	n/a	chr20:13619643-13619656 chr20:13619644-13619655 chr20:13619643-13619658 chr20:13619706-13619717 chr20:13619644-13619653 chr20:13619644-13619654 chr20:13619643-13619656 chr20:13619645-13619655 chr20:13619645-13619655 chr20:13619382-13619392 chr20:13619643-13619656 chr20:13619646-13619655 chr20:13619645-13619654 chr20:13619644-13619655
10	TAF1	chr20:13619020-13620172	ECC-1	luminal epithelium:	n/a	n/a
11	MAX	chr20:13618860-13620217	A549	lung:	n/a	chr20:13619643-13619656 chr20:13619644-13619655 chr20:13619643-13619658 chr20:13619706-13619717 chr20:13619644-13619653 chr20:13619644-13619654 chr20:13619643-13619656 chr20:13619645-13619655 chr20:13619645-13619655 chr20:13619382-13619392 chr20:13619643-13619656 chr20:13619646-13619655 chr20:13619645-13619654 chr20:13619644-13619655
12	GABPA	chr20:13618594-13620277	MCF-7	breast:	n/a	chr20:13619761-13619772 chr20:13619761-13619770 chr20:13619758-13619772 chr20:13619763-13619772 chr20:13619761-13619775
13	ZNF217	chr20:13619602-13620156	MCF-7	breast:	n/a	n/a
14	JUND	chr20:13619364-13620188	K562	blood:	n/a	n/a
15	MTA3	chr20:13619333-13620183	GM12878	blood:	n/a	n/a
16	GATA2	chr20:13619345-13620130	SH-SY5Y	brain:	n/a	chr20:13619776-13619785 chr20:13619777-13619794 chr20:13619772-13619788 chr20:13619769-13619790 chr20:13619775-13619785
17	GATA3	chr20:13619464-13620231	MCF-7	breast:	n/a	chr20:13619776-13619785 chr20:13619777-13619794 chr20:13619772-13619788 chr20:13619769-13619790 chr20:13619775-13619783 chr20:13619775-13619785
18	HA-E2F1	chr20:13618933-13620251	MCF-7	breast:	n/a	chr20:13619762-13619771 chr20:13619421-13619430
19	GABPA	chr20:13618783-13620162	SK-N-SH	brain:	n/a	chr20:13619761-13619772 chr20:13619761-13619770 chr20:13619758-13619772 chr20:13619763-13619772 chr20:13619761-13619775
20	MYBL2	chr20:13619030-13620133	HepG2	liver:	n/a	n/a
21	SIN3AK20	chr20:13618692-13620254	MCF-7	breast:	n/a	n/a
22	JUND	chr20:13619511-13620219	H1-hESC	embryonic stem cell:	n/a	n/a
23	ZEB1	chr20:13618800-13620244	HepG2	liver:	n/a	chr20:13618906-13618917 chr20:13619707-13619714
24	MAZ	chr20:13618526-13620171	IMR90	lung:	n/a	chr20:13619643-13619656 chr20:13619644-13619655 chr20:13619643-13619658 chr20:13619706-13619717 chr20:13619644-13619653 chr20:13619644-13619654 chr20:13619643-13619656 chr20:13619645-13619655 chr20:13619645-13619655 chr20:13619382-13619392 chr20:13619643-13619656 chr20:13619646-13619655 chr20:13619645-13619654 chr20:13619644-13619655
25	MXI1	chr20:13618474-13620336	SK-N-SH	brain:	n/a	chr20:13619646-13619655
26	SIN3A	chr20:13618795-13620197	H1-hESC	embryonic stem cell:	n/a	chr20:13619646-13619655
27	GATA3	chr20:13619328-13620297	MCF-7	breast:	n/a	chr20:13619776-13619785 chr20:13619777-13619794 chr20:13619772-13619788 chr20:13619769-13619790 chr20:13619775-13619783 chr20:13619775-13619785
28	EP300	chr20:13619462-13620150	GM12878	blood:	n/a	chr20:13619486-13619502 chr20:13619568-13619575
29	SIN3AK20	chr20:13618704-13620260	MCF-7	breast:	n/a	n/a
30	NRF1	chr20:13619451-13620225	SK-N-SH	brain:	n/a	chr20:13619761-13619772 chr20:13619761-13619770 chr20:13619758-13619772 chr20:13619763-13619772 chr20:13619761-13619775
31	GABPA	chr20:13618786-13620188	A549	lung:	n/a	chr20:13619761-13619772 chr20:13619761-13619770 chr20:13619758-13619772 chr20:13619763-13619772 chr20:13619761-13619775

No.	Distal block	Cell Line	Cell type
1	chr20:13608491..13611413-chr20:13619029..13620797,2	MCF-7	breast:
2	chr11:62609096..62609696-chr20:13619158..13620132,2	NB4	blood:
3	chr20:13618822..13620677-chr20:13764351..13767218,2	MCF-7	breast:

Variant related genes	Relation type
TASP1	TF binding region
ENSG00000133316	Chromatin interaction
ENSG00000101247	Chromatin interaction
ENSG00000089123	Chromatin interaction
ENSG00000089048	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12106089	0.88[EUR][1000 genomes]
rs13038057	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13041435	0.94[EUR][1000 genomes]
rs13041895	0.97[EUR][1000 genomes]
rs13045526	0.87[EUR][1000 genomes]
rs13045616	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16994005	0.85[AMR][1000 genomes]
rs16994088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16994094	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16994097	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34527054	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34970733	0.81[EUR][1000 genomes]
rs35023928	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35026915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35114574	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35652905	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35875212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35954536	0.81[EUR][1000 genomes]
rs36033897	0.94[EUR][1000 genomes]
rs59771854	0.94[EUR][1000 genomes]
rs6042274	0.84[EUR][1000 genomes]
rs6042275	0.84[EUR][1000 genomes]
rs6042284	0.84[EUR][1000 genomes]
rs6105146	0.84[EUR][1000 genomes]
rs6109966	0.80[EUR][1000 genomes]
rs62207617	0.86[EUR][1000 genomes]
rs62207642	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62207643	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62207644	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs74178049	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs74178050	0.93[AMR][1000 genomes];0.97[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	nsv1061303	chr20:13395546-13810990	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv916202	chr20:13421724-14043615	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1059817	chr20:13422602-13807968	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1066810	chr20:13451869-14432454	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1061323	chr20:13551004-13746346	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv912689	chr20:13570331-14155881	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv531478	chr20:13580524-13814797	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1059221	chr20:13589432-13977327	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13617800-13620200	Active TSS	Aorta	Aorta
2	chr20:13618200-13620200	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr20:13618200-13620200	Active TSS	Fetal Intestine Large	intestine
4	chr20:13618200-13620200	Active TSS	A549	lung
5	chr20:13618200-13620400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr20:13618400-13620200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr20:13618400-13620200	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr20:13618400-13620200	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr20:13618400-13620200	Active TSS	NHLF	lung
10	chr20:13618600-13620200	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr20:13618600-13620200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr20:13618600-13620200	Active TSS	H1 Cell Line	embryonic stem cell
13	chr20:13618600-13620200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr20:13618600-13620200	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr20:13618600-13620200	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr20:13618600-13620200	Active TSS	Primary T cells from cord blood	blood
17	chr20:13618600-13620200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr20:13618600-13620200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr20:13618800-13620200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr20:13618800-13620200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr20:13618800-13620200	Active TSS	H9 Cell Line	embryonic stem cell
22	chr20:13618800-13620200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr20:13618800-13620200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr20:13618800-13620200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr20:13618800-13620200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr20:13618800-13620200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr20:13618800-13620200	Active TSS	Brain Anterior Caudate	brain
28	chr20:13618800-13620200	Active TSS	Brain Hippocampus Middle	brain
29	chr20:13618800-13620200	Active TSS	Brain Substantia Nigra	brain
30	chr20:13618800-13620200	Active TSS	Fetal Stomach	stomach
31	chr20:13618800-13620200	Active TSS	Left Ventricle	heart
32	chr20:13618800-13620200	Active TSS	Ovary	ovary
33	chr20:13618800-13620200	Active TSS	Pancreas	Pancrea
34	chr20:13618800-13620200	Active TSS	Placenta Amnion	Placenta Amnion
35	chr20:13618800-13620200	Active TSS	Psoas Muscle	Psoas
36	chr20:13618800-13620200	Active TSS	Right Atrium	heart
37	chr20:13618800-13620200	Active TSS	Stomach Smooth Muscle	stomach
38	chr20:13618800-13620200	Active TSS	HSMMtube	muscle
39	chr20:13618800-13620400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr20:13619000-13620200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr20:13619000-13620200	Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr20:13619000-13620200	Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr20:13619000-13620200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr20:13619000-13620200	Active TSS	Colon Smooth Muscle	Colon
45	chr20:13619000-13620200	Active TSS	Fetal Heart	heart
46	chr20:13619000-13620200	Active TSS	Fetal Kidney	kidney
47	chr20:13619000-13620200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr20:13619000-13620200	Active TSS	Stomach Mucosa	stomach
49	chr20:13619200-13620200	Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr20:13619200-13620200	Active TSS	Brain Angular Gyrus	brain

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