Variant report

Variant	rs13143281
Chromosome Location	chr4:56721460-56721461
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	GATA3	chr4:56721383-56721569	SH-SY5Y	brain:	n/a	chr4:56721514-56721530
2	POLR2A	chr4:56721423-56721478	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr4:56721363-56722102	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:56717893..56722441-chr4:56723240..56726712,5	MCF-7	breast:
2	chr4:56719938..56721892-chr4:56731701..56734664,2	MCF-7	breast:
3	chr4:56720109..56722018-chr4:56797082..56799288,2	K562	blood:
4	chr4:56684809..56687044-chr4:56720759..56722719,2	K562	blood:
5	chr4:56717920..56722163-chr4:56723001..56728347,7	K562	blood:

Variant related genes	Relation type
EXOC1	TF binding region
ENSG00000250821	Chromatin interaction
ENSG00000090989	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10014018	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1133506	0.88[ASN][1000 genomes]
rs17086157	0.88[ASN][1000 genomes]
rs17797565	0.88[ASN][1000 genomes]
rs1992813	0.88[ASN][1000 genomes]
rs2412692	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4352536	1.00[ASN][1000 genomes]
rs56944181	0.88[ASN][1000 genomes]
rs6554325	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs66929918	0.88[ASN][1000 genomes]
rs66984899	0.88[ASN][1000 genomes]
rs67351752	0.88[ASN][1000 genomes]
rs6824915	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73155525	0.88[ASN][1000 genomes]
rs73155539	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv10496	chr4:56336946-56841137	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv1005845	chr4:56522075-56980357	Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	esv3406311	chr4:56580578-56840877	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS 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	26 gene(s)	inside rSNPs	diseases
5	nsv427681	chr4:56651921-56908209	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56719200-56722200	Active TSS	GM12878-XiMat	blood
2	chr4:56720400-56721600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:56720400-56722200	Flanking Active TSS	Dnd41	blood
4	chr4:56720400-56764600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr4:56720600-56721600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:56720600-56721600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr4:56720600-56721600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:56720600-56722400	Enhancers	Small Intestine	intestine
9	chr4:56720600-56722600	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr4:56720600-56729000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:56720600-56729000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:56720600-56734600	Weak transcription	Lung	lung
13	chr4:56720600-56747400	Weak transcription	Spleen	Spleen
14	chr4:56720800-56721600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:56720800-56721600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr4:56720800-56721600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr4:56720800-56721600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr4:56720800-56721600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr4:56720800-56721800	Enhancers	Primary hematopoietic stem cells	blood
20	chr4:56720800-56722200	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr4:56720800-56722200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr4:56720800-56722400	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr4:56720800-56722600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr4:56720800-56722800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr4:56720800-56723600	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr4:56720800-56723800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr4:56720800-56724600	Weak transcription	Placenta	Placenta
28	chr4:56720800-56725800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr4:56720800-56726000	Weak transcription	Fetal Thymus	thymus
30	chr4:56720800-56734600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:56720800-56735200	Weak transcription	Esophagus	oesophagus
32	chr4:56720800-56737200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:56720800-56761800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr4:56721000-56721600	Enhancers	Liver	Liver
35	chr4:56721000-56721600	Enhancers	Fetal Heart	heart
36	chr4:56721000-56721600	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr4:56721000-56721600	Enhancers	Hela-S3	cervix
38	chr4:56721000-56721800	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr4:56721000-56721800	Enhancers	Primary T cells from cord blood	blood
40	chr4:56721000-56721800	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr4:56721000-56721800	Enhancers	Brain Angular Gyrus	brain
42	chr4:56721000-56721800	Weak transcription	Psoas Muscle	Psoas
43	chr4:56721000-56722200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr4:56721000-56722200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr4:56721000-56722200	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr4:56721000-56722400	Enhancers	Brain Hippocampus Middle	brain
47	chr4:56721000-56722400	Enhancers	Thymus	Thymus
48	chr4:56721000-56722400	Enhancers	HepG2	liver
49	chr4:56721000-56722600	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr4:56721000-56722600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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