Variant report

Variant	rs11672862
Chromosome Location	chr19:19262300-19262301
allele	C/T
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: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11085254	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1124855	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11668319	0.91[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap]
rs11669988	0.85[CHB][hapmap]
rs11671619	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11878301	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11879715	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12162246	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12162274	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12974661	0.85[EUR][1000 genomes]
rs16995922	0.85[CHB][hapmap]
rs2006991	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2157850	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2283618	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2283619	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2283622	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28584534	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34719098	0.83[EUR][1000 genomes]
rs35743105	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3819578	0.91[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap]
rs3890384	0.91[CEU][hapmap];0.86[CHB][hapmap];0.84[JPT][hapmap];0.91[EUR][1000 genomes]
rs4471820	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57157462	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58190593	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59829545	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59953916	0.84[EUR][1000 genomes]
rs60450968	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60636572	0.84[EUR][1000 genomes]
rs61061000	0.80[EUR][1000 genomes]
rs66907536	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67801643	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67845377	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67868334	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72997105	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73535580	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7360000	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[EUR][1000 genomes];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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11672862	MEF2B	cis	Whole Blood	GTEx
rs11672862	MEF2B	cis	Thyroid	GTEx

Chromatin state (count:83 , 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	chr19:19249800-19269000	Weak transcription	Brain Angular Gyrus	brain
5	chr19:19249800-19271200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr19:19249800-19280600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr19:19250000-19266800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr19:19250600-19271800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr19:19252800-19272400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr19:19253600-19265600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr19:19256000-19262600	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr19:19257000-19262400	Strong transcription	Fetal Intestine Small	intestine
13	chr19:19257000-19263000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr19:19257000-19266600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr19:19257000-19271200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr19:19257000-19271600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr19:19257000-19280400	Weak transcription	Gastric	stomach
18	chr19:19257000-19280400	Weak transcription	Pancreas	Pancrea
19	chr19:19257200-19262600	Strong transcription	Fetal Stomach	stomach
20	chr19:19257400-19262400	Strong transcription	Stomach Smooth Muscle	stomach
21	chr19:19257400-19262600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr19:19257400-19266400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr19:19257400-19269000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr19:19257800-19270000	Weak transcription	Osteobl	bone
25	chr19:19257800-19270400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr19:19258000-19267800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr19:19258400-19280600	Weak transcription	Right Ventricle	heart
28	chr19:19258600-19273000	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr19:19258800-19272600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr19:19258800-19280400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr19:19259000-19262400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr19:19259000-19266800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr19:19259000-19290200	Weak transcription	Colon Smooth Muscle	Colon
34	chr19:19259200-19263800	Weak transcription	HSMMtube	muscle
35	chr19:19259200-19267000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr19:19259400-19268200	Weak transcription	Rectal Smooth Muscle	rectum
37	chr19:19260200-19271600	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr19:19260200-19280600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr19:19260200-19280600	Weak transcription	Brain Hippocampus Middle	brain
40	chr19:19260400-19263600	Weak transcription	Fetal Muscle Leg	muscle
41	chr19:19260400-19266200	Weak transcription	Aorta	Aorta
42	chr19:19260400-19266200	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr19:19260400-19267200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr19:19260400-19267400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr19:19260400-19267600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr19:19260400-19269400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr19:19260400-19280800	Weak transcription	Ovary	ovary
48	chr19:19260600-19262400	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr19:19260600-19262400	Weak transcription	Left Ventricle	heart
50	chr19:19260600-19263600	Weak transcription	Fetal Muscle Trunk	muscle

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