Variant report

Variant	rs61061000
Chromosome Location	chr19:19283268-19283269
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT5A	chr19:19282707-19283303	GM12878	blood:	n/a	chr19:19282920-19282932
2	POLR2A	chr19:19282363-19283579	K562	blood:	n/a	n/a
3	POLR2A	chr19:19282627-19283305	H1-hESC	embryonic stem cell:	n/a	n/a
4	RUNX3	chr19:19282853-19283390	GM12878	blood:	n/a	n/a
5	RCOR1	chr19:19282542-19283811	K562	blood:	n/a	n/a
6	CEBPB	chr19:19282926-19283322	MCF-7	breast:	n/a	n/a
7	CREB1	chr19:19282696-19283392	HepG2	liver:	n/a	n/a
8	TCF12	chr19:19282887-19283268	GM12878	blood:	n/a	n/a
9	RUNX3	chr19:19282844-19283853	GM12878	blood:	n/a	n/a
10	TCF12	chr19:19282765-19283335	ECC-1	luminal epithelium:	n/a	n/a
11	UBTF	chr19:19282916-19283284	K562	blood:	n/a	n/a
12	PML	chr19:19282739-19283321	GM12878	blood:	n/a	n/a
13	MYBL2	chr19:19282805-19283294	HepG2	liver:	n/a	n/a
14	CEBPB	chr19:19282799-19283272	ECC-1	luminal epithelium:	n/a	n/a
15	CEBPB	chr19:19282746-19283342	HCT-116	colon:	n/a	n/a
16	CEBPB	chr19:19282618-19283288	K562	blood:	n/a	n/a
17	CBX3	chr19:19282587-19283440	K562	blood:	n/a	n/a
18	JUN	chr19:19282160-19283412	K562	blood:	n/a	n/a
19	MAZ	chr19:19282597-19283374	IMR90	lung:	n/a	chr19:19283045-19283054
20	MTA3	chr19:19282529-19283404	GM12878	blood:	n/a	n/a
21	YY1	chr19:19282903-19283269	HepG2	liver:	n/a	chr19:19283158-19283169
22	POLR2A	chr19:19282281-19283398	HepG2	liver:	n/a	n/a
23	MAZ	chr19:19282709-19283730	K562	blood:	n/a	chr19:19283045-19283054
24	EP300	chr19:19282782-19283281	HepG2	liver:	n/a	chr19:19282839-19282846
25	CHD2	chr19:19283116-19283304	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr19:19282549-19283288	GM12878	blood:	n/a	n/a
27	EBF1	chr19:19282761-19283298	GM12878	blood:	n/a	n/a
28	POLR2A	chr19:19282888-19283357	K562	blood:	n/a	n/a
29	POLR2A	chr19:19283223-19283520	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD2	chr19:19282961-19283275	HepG2	liver:	n/a	n/a
31	CHD2	chr19:19282935-19283308	Hela-S3	cervix:	n/a	n/a
32	KAP1	chr19:19282852-19283294	U2OS	brain:	n/a	n/a
33	CEBPB	chr19:19282939-19283286	MCF-7	breast:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19254048..19257177-chr19:19281420..19283386,3	K562	blood:
2	chr19:19173662..19176225-chr19:19282818..19284543,2	K562	blood:
3	chr19:19171096..19173278-chr19:19281615..19284130,2	K562	blood:
4	chr19:19281578..19283666-chr19:19326802..19329714,2	K562	blood:
5	chr19:19280728..19282635-chr19:19282932..19284742,2	K562	blood:
6	chr19:19256287..19258012-chr19:19281605..19284547,2	MCF-7	breast:
7	chr19:19276770..19279555-chr19:19281152..19284239,3	K562	blood:
8	chr19:19281703..19283642-chr19:19290423..19292438,2	MCF-7	breast:

No data

Variant related genes	Relation type
MEF2B	TF binding region
ENSG00000254901	Chromatin interaction
ENSG00000181035	Chromatin interaction
ENSG00000213999	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10854010	0.85[AFR][1000 genomes]
rs1124855	0.83[EUR][1000 genomes]
rs11672862	0.80[EUR][1000 genomes]
rs11878301	0.82[EUR][1000 genomes]
rs11879715	0.80[EUR][1000 genomes]
rs12162246	0.82[EUR][1000 genomes]
rs12162274	0.82[EUR][1000 genomes]
rs12974661	0.80[EUR][1000 genomes]
rs2006991	0.81[EUR][1000 genomes]
rs2157850	0.82[EUR][1000 genomes]
rs28584534	0.80[EUR][1000 genomes]
rs35743105	0.80[EUR][1000 genomes]
rs57157462	0.82[EUR][1000 genomes]
rs58190593	0.80[EUR][1000 genomes]
rs59829545	0.82[EUR][1000 genomes]
rs59953916	0.81[EUR][1000 genomes]
rs60450968	0.80[EUR][1000 genomes]
rs60636572	0.81[EUR][1000 genomes]
rs66907536	0.81[AFR][1000 genomes]
rs67239864	0.85[AFR][1000 genomes]
rs67801643	0.82[EUR][1000 genomes]
rs67868334	0.83[EUR][1000 genomes]
rs7360000	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833779	chr19:19163492-19313091	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv911303	chr19:19256870-19505087	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs61061000	MEF2B	cis	Whole Blood	GTEx
rs61061000	MEF2B	cis	Thyroid	GTEx

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19259000-19290200	Weak transcription	Colon Smooth Muscle	Colon
2	chr19:19268800-19287200	Weak transcription	Dnd41	blood
3	chr19:19277400-19300600	Weak transcription	Small Intestine	intestine
4	chr19:19280800-19287000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr19:19280800-19301600	Weak transcription	NHEK	skin
6	chr19:19281000-19283400	Enhancers	Placenta	Placenta
7	chr19:19281000-19287000	Weak transcription	Primary T cells from cord blood	blood
8	chr19:19281200-19283800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr19:19281200-19283800	Enhancers	GM12878-XiMat	blood
10	chr19:19281200-19287400	Weak transcription	Aorta	Aorta
11	chr19:19281400-19283400	Enhancers	Adipose Nuclei	Adipose
12	chr19:19281400-19285600	Weak transcription	Right Ventricle	heart
13	chr19:19281400-19286600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr19:19281400-19287000	Weak transcription	Gastric	stomach
15	chr19:19281400-19287000	Weak transcription	Lung	lung
16	chr19:19281400-19287000	Weak transcription	Thymus	Thymus
17	chr19:19281400-19287400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr19:19281400-19287400	Weak transcription	Esophagus	oesophagus
19	chr19:19281400-19287400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr19:19281400-19290200	Weak transcription	Brain Substantia Nigra	brain
21	chr19:19281400-19292200	Weak transcription	HMEC	breast
22	chr19:19281400-19300800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr19:19281600-19285800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr19:19281600-19286400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr19:19281600-19286600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr19:19281600-19287200	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr19:19281600-19287200	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr19:19281600-19287200	Weak transcription	Fetal Intestine Large	intestine
29	chr19:19281600-19287400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr19:19281600-19289000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr19:19281600-19290400	Weak transcription	Fetal Lung	lung
32	chr19:19281600-19290600	Weak transcription	Fetal Brain Female	brain
33	chr19:19281600-19290800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr19:19281600-19290800	Weak transcription	Brain Angular Gyrus	brain
35	chr19:19281600-19292000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr19:19281600-19293000	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr19:19281600-19297200	Weak transcription	Primary hematopoietic stem cells	blood
38	chr19:19281600-19299400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr19:19281600-19300600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr19:19281600-19302000	Weak transcription	NH-A	brain
41	chr19:19281600-19302200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr19:19281800-19285800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr19:19281800-19285800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr19:19281800-19286400	Weak transcription	Fetal Intestine Small	intestine
45	chr19:19281800-19286600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr19:19281800-19286600	Weak transcription	Fetal Thymus	thymus
47	chr19:19281800-19286600	Weak transcription	Ovary	ovary
48	chr19:19281800-19286800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr19:19281800-19287000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr19:19281800-19287000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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