Variant report

Variant	rs28451834
Chromosome Location	chr19:19260760-19260761
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:19256328..19259156-chr19:19260184..19262350,2	K562	blood:
2	chr19:19254051..19256219-chr19:19260544..19262404,3	K562	blood:

Extended variants
information (count: 3 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs3729767	0.96[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs28451834	MEF2B	cis	Whole Blood	GTEx

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19249400-19271200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr19:19249600-19271800	Weak transcription	Brain Substantia Nigra	brain
3	chr19:19249600-19282600	Weak transcription	NHLF	lung
4	chr19:19249800-19261800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr19:19249800-19269000	Weak transcription	Brain Angular Gyrus	brain
6	chr19:19249800-19271200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr19:19249800-19280600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr19:19250000-19261400	Weak transcription	HepG2	liver
9	chr19:19250000-19266800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr19:19250600-19271800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr19:19252800-19272400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr19:19253600-19265600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr19:19255800-19261400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr19:19256000-19262600	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr19:19257000-19261000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr19:19257000-19261400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr19:19257000-19261600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr19:19257000-19261800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr19:19257000-19262000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr19:19257000-19262400	Strong transcription	Fetal Intestine Small	intestine
21	chr19:19257000-19263000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr19:19257000-19266600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr19:19257000-19271200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr19:19257000-19271600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr19:19257000-19280400	Weak transcription	Gastric	stomach
26	chr19:19257000-19280400	Weak transcription	Pancreas	Pancrea
27	chr19:19257200-19262600	Strong transcription	Fetal Stomach	stomach
28	chr19:19257400-19260800	Strong transcription	Adipose Nuclei	Adipose
29	chr19:19257400-19260800	Strong transcription	Liver	Liver
30	chr19:19257400-19261600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr19:19257400-19261800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr19:19257400-19262000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr19:19257400-19262400	Strong transcription	Stomach Smooth Muscle	stomach
34	chr19:19257400-19262600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr19:19257400-19266400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr19:19257400-19269000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr19:19257800-19261800	Strong transcription	Spleen	Spleen
38	chr19:19257800-19270000	Weak transcription	Osteobl	bone
39	chr19:19257800-19270400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr19:19258000-19267800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr19:19258200-19261600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr19:19258400-19280600	Weak transcription	Right Ventricle	heart
43	chr19:19258600-19273000	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr19:19258800-19262200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr19:19258800-19272600	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr19:19258800-19280400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr19:19259000-19261600	Weak transcription	Primary B cells from cord blood	blood
48	chr19:19259000-19261600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr19:19259000-19261600	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr19:19259000-19261800	Weak transcription	Placenta	Placenta

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