Variant report

Variant	rs11085254
Chromosome Location	chr19:19277779-19277780
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:19276342..19278695-chr19:19279109..19280933,2	K562	blood:
2	chr19:19276770..19279555-chr19:19281152..19284239,3	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10854010	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10854011	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1124855	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11668300	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11668319	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11671619	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11672862	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11878301	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11879715	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12162246	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12162274	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12974661	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2006991	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2157850	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2283618	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2283619	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2283622	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28584534	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34719098	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35743105	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3819578	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3890384	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4471820	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57157462	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58190593	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59829545	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59953916	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60450968	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60636572	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66764858	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66907536	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67238925	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67239864	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67801643	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67845377	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67868334	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72997105	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73535580	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73537429	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73537449	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7360000	0.86[EUR][1000 genomes];0.85[ASN][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
rs11085254	MEF2B	cis	Thyroid	GTEx
rs11085254	MEF2B	cis	Whole Blood	GTEx

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19249600-19282600	Weak transcription	NHLF	lung
2	chr19:19249800-19280600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr19:19257000-19280400	Weak transcription	Gastric	stomach
4	chr19:19257000-19280400	Weak transcription	Pancreas	Pancrea
5	chr19:19258400-19280600	Weak transcription	Right Ventricle	heart
6	chr19:19258800-19280400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr19:19259000-19290200	Weak transcription	Colon Smooth Muscle	Colon
8	chr19:19260200-19280600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr19:19260200-19280600	Weak transcription	Brain Hippocampus Middle	brain
10	chr19:19260400-19280800	Weak transcription	Ovary	ovary
11	chr19:19260600-19280400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr19:19260600-19280400	Weak transcription	Brain Anterior Caudate	brain
13	chr19:19260600-19280400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr19:19260600-19280400	Weak transcription	Lung	lung
15	chr19:19260600-19281000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr19:19260800-19280800	Weak transcription	Liver	Liver
17	chr19:19264200-19280800	Weak transcription	HSMMtube	muscle
18	chr19:19267000-19280400	Weak transcription	Spleen	Spleen
19	chr19:19267200-19280800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr19:19268000-19280400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr19:19268000-19280600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr19:19268000-19280600	Weak transcription	Primary T cells from cord blood	blood
23	chr19:19268000-19280600	Weak transcription	Adipose Nuclei	Adipose
24	chr19:19268200-19278800	Weak transcription	Fetal Muscle Leg	muscle
25	chr19:19268200-19280200	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr19:19268200-19280400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr19:19268200-19282600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr19:19268400-19280400	Weak transcription	Fetal Intestine Small	intestine
29	chr19:19268400-19280600	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr19:19268400-19280800	Weak transcription	Fetal Lung	lung
31	chr19:19268800-19287200	Weak transcription	Dnd41	blood
32	chr19:19269000-19281000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr19:19271200-19280400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr19:19271800-19281000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr19:19272000-19280400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr19:19272400-19280400	Weak transcription	Thymus	Thymus
37	chr19:19272600-19280400	Weak transcription	Primary B cells from cord blood	blood
38	chr19:19273600-19280400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr19:19274000-19280600	Weak transcription	Fetal Thymus	thymus
40	chr19:19275400-19277800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr19:19275600-19279200	Strong transcription	Fetal Stomach	stomach
42	chr19:19276400-19279200	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr19:19276600-19280400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr19:19276800-19280400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr19:19276800-19280400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr19:19277200-19278400	Weak transcription	GM12878-XiMat	blood
47	chr19:19277200-19280200	Weak transcription	Primary B cells from peripheral blood	blood
48	chr19:19277200-19280400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr19:19277400-19300600	Weak transcription	Small Intestine	intestine
50	chr19:19277600-19278800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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