Variant report

Variant	rs4930229
Chromosome Location	chr11:67944080-67944081
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10896298	0.93[ASN][1000 genomes]
rs10896301	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10896303	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10896304	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10896305	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12225316	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1894204	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2011157	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2054865	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34236202	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34493482	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4345973	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4930228	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4930230	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4930561	0.93[ASN][1000 genomes]
rs4930563	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4930564	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61890513	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7950452	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv825963	chr11:67763676-68197054	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4930229	SUV420H1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67915000-67973800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:67922600-67956600	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr11:67924200-67949800	Strong transcription	Rectal Mucosa Donor 31	rectum
4	chr11:67924400-67956600	Strong transcription	Fetal Intestine Large	intestine
5	chr11:67924400-67956800	Strong transcription	Primary T cells from cord blood	blood
6	chr11:67924400-67957000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:67924600-67956400	Strong transcription	Fetal Muscle Trunk	muscle
8	chr11:67924600-67956600	Strong transcription	Fetal Muscle Leg	muscle
9	chr11:67925200-67955000	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr11:67925600-67944400	Strong transcription	Fetal Intestine Small	intestine
11	chr11:67925600-67948400	Strong transcription	Duodenum Smooth Muscle	Duodenum
12	chr11:67928000-67956600	Strong transcription	Duodenum Mucosa	Duodenum
13	chr11:67928400-67944200	Strong transcription	Thymus	Thymus
14	chr11:67928400-67945600	Strong transcription	Brain Germinal Matrix	brain
15	chr11:67928400-67950000	Strong transcription	Skeletal Muscle Female	skeletal muscle
16	chr11:67928600-67955400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:67928800-67945800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr11:67928800-67948000	Strong transcription	Primary B cells from cord blood	blood
19	chr11:67928800-67954200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:67928800-67954600	Strong transcription	Dnd41	blood
21	chr11:67928800-67955200	Strong transcription	Primary B cells from peripheral blood	blood
22	chr11:67929000-67944600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr11:67929000-67954400	Strong transcription	Adipose Nuclei	Adipose
24	chr11:67929000-67955200	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr11:67929000-67957600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:67929200-67948200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:67929200-67948200	Strong transcription	Left Ventricle	heart
28	chr11:67929200-67956800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr11:67929200-67957600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr11:67929400-67953400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr11:67929600-67954800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:67930000-67954000	Strong transcription	Placenta	Placenta
33	chr11:67930000-67955400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr11:67930200-67944200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr11:67930200-67946000	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr11:67930400-67953200	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr11:67930400-67954200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:67930600-67947800	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr11:67930800-67944400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr11:67930800-67948000	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr11:67931000-67948000	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr11:67931200-67947600	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr11:67931200-67954800	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr11:67931400-67945600	Weak transcription	K562	blood
45	chr11:67931400-67948000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr11:67931400-67957600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr11:67932400-67948200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr11:67932400-67954400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr11:67932400-67956800	Strong transcription	Fetal Thymus	thymus
50	chr11:67932800-67954200	Strong transcription	Cortex derived primary cultured neurospheres	brain

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