Variant report

Variant	rs73537449
Chromosome Location	chr19:19298028-19298029
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:19297467-19298030	K562	blood:	n/a	n/a
2	POLR2A	chr19:19297496-19298250	HepG2	liver:	n/a	n/a
3	POLR2A	chr19:19296554-19298034	K562	blood:	n/a	n/a
4	POLR2A	chr19:19297403-19298136	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr19:19297732-19298029	GM12892	blood:	n/a	n/a
6	POLR2A	chr19:19296653-19298053	HL-60	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
RFXANK	TF binding region
MEF2BNB	TF binding region
MEF2BNB-MEF2B	TF binding region
ENSG00000254901	Chromatin interaction
ENSG00000064489	Chromatin interaction
ENSG00000064490	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	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10854011	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11085254	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11668300	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11668319	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11671619	0.86[AMR][1000 genomes];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	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2157850	0.80[EUR][1000 genomes]
rs2283618	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2283619	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2283622	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34719098	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3819578	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3890384	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4471820	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57157462	0.80[EUR][1000 genomes]
rs59829545	0.80[EUR][1000 genomes]
rs59953916	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60636572	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66764858	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66907536	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67238925	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67239864	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67801643	0.80[EUR][1000 genomes]
rs67845377	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72997105	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73535580	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73537429	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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
rs73537449	MEF2B	cis	Thyroid	GTEx
rs73537449	MEF2B	cis	Whole Blood	GTEx

Chromatin state (count:120 , 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	chr19:19291400-19298200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr19:19291400-19298200	Strong transcription	Fetal Stomach	stomach
25	chr19:19291400-19300800	Strong transcription	Fetal Intestine Small	intestine
26	chr19:19291600-19298200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr19:19291800-19300000	Weak transcription	Colon Smooth Muscle	Colon
28	chr19:19291800-19301600	Weak transcription	A549	lung
29	chr19:19292800-19301600	Weak transcription	HMEC	breast
30	chr19:19293000-19300800	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr19:19293400-19300800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr19:19293400-19300800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr19:19293600-19300000	Weak transcription	Brain Angular Gyrus	brain
34	chr19:19293600-19300200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr19:19293600-19300800	Weak transcription	Hela-S3	cervix
36	chr19:19293600-19301000	Weak transcription	Osteobl	bone
37	chr19:19293600-19301800	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr19:19293600-19301800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr19:19293600-19301800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr19:19293600-19302000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr19:19293600-19302000	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr19:19293600-19302200	Weak transcription	Aorta	Aorta
43	chr19:19293800-19300000	Weak transcription	Liver	Liver
44	chr19:19293800-19300000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr19:19294400-19300800	Weak transcription	Primary T cells from cord blood	blood
46	chr19:19295400-19298400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr19:19295400-19300000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr19:19295800-19301800	Weak transcription	Fetal Kidney	kidney
49	chr19:19296000-19298200	Strong transcription	Colonic Mucosa	Colon
50	chr19:19296000-19298200	Strong transcription	Thymus	Thymus

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