Variant report

Variant	rs66764858
Chromosome Location	chr19:19297355-19297356
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr19:19296716-19297723	K562	blood:	n/a	n/a
2	CHD2	chr19:19297000-19297513	K562	blood:	n/a	n/a
3	SPI1	chr19:19297012-19297716	HL-60	blood:	n/a	n/a
4	MAZ	chr19:19296652-19297357	IMR90	lung:	n/a	n/a
5	SPI1	chr19:19297297-19297480	K562	blood:	n/a	n/a
6	SPI1	chr19:19297221-19297479	HL-60	blood:	n/a	n/a
7	BHLHE40	chr19:19296840-19297409	K562	blood:	n/a	n/a
8	IRF1	chr19:19297331-19297438	K562	blood:	n/a	n/a
9	RUNX3	chr19:19297172-19297467	GM12878	blood:	n/a	n/a
10	MAX	chr19:19296717-19297448	K562	blood:	n/a	n/a
11	POLR2A	chr19:19296554-19298034	K562	blood:	n/a	n/a
12	POLR2A	chr19:19296653-19298053	HL-60	blood:	n/a	n/a
13	POLR2A	chr19:19296752-19297411	K562	blood:	n/a	n/a
14	POLR2A	chr19:19296743-19297685	HL-60	blood:	n/a	n/a
15	ZBTB33	chr19:19297139-19297461	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19294693..19300778-chr19:19301483..19306941,9	K562	blood:
2	chr19:19296821..19298878-chr19:19300164..19303100,3	MCF-7	breast:
3	chr19:19291680..19293828-chr19:19294510..19298396,4	K562	blood:
4	chr19:19295305..19299616-chr19:19301493..19303729,7	K562	blood:

No data

Variant related genes	Relation type
MEF2BNB-MEF2B	TF binding region
MEF2BNB	TF binding region
ENSG00000064489	Chromatin interaction
ENSG00000064490	Chromatin interaction
ENSG00000254901	Chromatin interaction
ENSG00000213999	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10854010	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10854011	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11085254	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11668300	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11668319	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11671619	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11878301	0.80[EUR][1000 genomes]
rs12162246	0.80[EUR][1000 genomes]
rs12162274	0.80[EUR][1000 genomes]
rs12974661	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2157850	0.80[EUR][1000 genomes]
rs2283618	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2283619	0.89[ASN][1000 genomes]
rs2283622	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34719098	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3819578	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3890384	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4471820	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57157462	0.80[EUR][1000 genomes]
rs59829545	0.80[EUR][1000 genomes]
rs59953916	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60636572	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66907536	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67238925	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67239864	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67801643	0.80[EUR][1000 genomes]
rs67845377	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72997105	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73535580	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73537429	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73537449	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	nsv933613	chr19:19291456-19312244	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv961283	chr19:19293486-19312277	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs66764858	MEF2B	cis	Thyroid	GTEx
rs66764858	MEF2B	cis	Whole Blood	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19277400-19300600	Weak transcription	Small Intestine	intestine
2	chr19:19280800-19301600	Weak transcription	NHEK	skin
3	chr19:19281400-19300800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr19:19281600-19299400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr19:19281600-19300600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr19:19281600-19302000	Weak transcription	NH-A	brain
7	chr19:19281600-19302200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:19281800-19300000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr19:19281800-19301200	Weak transcription	Stomach Mucosa	stomach
10	chr19:19282000-19301600	Weak transcription	Fetal Heart	heart
11	chr19:19283400-19300600	Weak transcription	Psoas Muscle	Psoas
12	chr19:19283400-19301600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr19:19283400-19302000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr19:19283400-19302200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr19:19283600-19301800	Weak transcription	HSMMtube	muscle
16	chr19:19284200-19302000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr19:19285600-19301800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr19:19286000-19301000	Weak transcription	HepG2	liver
19	chr19:19286000-19302000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr19:19286600-19298200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr19:19288600-19300600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr19:19289800-19300800	Weak transcription	NHDF-Ad	bronchial
23	chr19:19291200-19298000	Strong transcription	Fetal Muscle Trunk	muscle
24	chr19:19291400-19298200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr19:19291400-19298200	Strong transcription	Fetal Stomach	stomach
26	chr19:19291400-19300800	Strong transcription	Fetal Intestine Small	intestine
27	chr19:19291600-19297800	Strong transcription	Placenta	Placenta
28	chr19:19291600-19298200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr19:19291800-19300000	Weak transcription	Colon Smooth Muscle	Colon
30	chr19:19291800-19301600	Weak transcription	A549	lung
31	chr19:19292200-19298000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr19:19292800-19301600	Weak transcription	HMEC	breast
33	chr19:19293000-19300800	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr19:19293400-19297400	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr19:19293400-19297600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr19:19293400-19300800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr19:19293400-19300800	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr19:19293600-19297600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr19:19293600-19297800	Weak transcription	Right Ventricle	heart
40	chr19:19293600-19300000	Weak transcription	Brain Angular Gyrus	brain
41	chr19:19293600-19300200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr19:19293600-19300800	Weak transcription	Hela-S3	cervix
43	chr19:19293600-19301000	Weak transcription	Osteobl	bone
44	chr19:19293600-19301800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr19:19293600-19301800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr19:19293600-19301800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr19:19293600-19302000	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr19:19293600-19302000	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr19:19293600-19302200	Weak transcription	Aorta	Aorta
50	chr19:19293800-19297600	Weak transcription	Esophagus	oesophagus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links