Variant report

Variant	rs11783652
Chromosome Location	chr8:54858494-54858495
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1050523	0.82[CHB][hapmap]
rs10958396	0.82[CHB][hapmap]
rs11986577	0.82[CHB][hapmap]
rs11994629	0.82[CHB][hapmap]
rs16919699	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17301329	0.91[CEU][hapmap];0.80[EUR][1000 genomes]
rs4440612	0.82[CHB][hapmap]
rs4506187	0.82[CHB][hapmap]
rs4737479	0.82[CHB][hapmap]
rs4737487	0.82[CHB][hapmap]
rs4737488	0.82[CHB][hapmap]
rs4738519	0.82[CHB][hapmap]
rs56253010	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7463083	0.82[CHB][hapmap]
rs7464767	0.82[CHB][hapmap]
rs9298497	0.82[CHB][hapmap]
rs952194	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2758160	chr8:54832990-55016965	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2759617	chr8:54832990-55016965	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv427821	chr8:54832990-55016965	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	esv1833796	chr8:54855680-54866491	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11783652	TCEA1	cis	lymphoblastoid	seeQTL
rs11783652	MRPL15	cis	lymphoblastoid	seeQTL

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54851200-54872600	Weak transcription	Brain Germinal Matrix	brain
2	chr8:54852200-54872600	Weak transcription	Fetal Brain Female	brain
3	chr8:54852400-54872600	Weak transcription	Esophagus	oesophagus
4	chr8:54853800-54869000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:54854600-54859200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:54856400-54889400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:54857200-54858600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:54857400-54859600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:54857600-54858600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:54857600-54858800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:54857600-54858800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:54857600-54859000	Active TSS	A549	lung
13	chr8:54857800-54858600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:54857800-54858600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:54857800-54858600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
16	chr8:54857800-54858600	Flanking Active TSS	NHEK	skin
17	chr8:54857800-54858600	Flanking Active TSS	Osteobl	bone
18	chr8:54857800-54859000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:54858000-54859000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr8:54858000-54859000	Enhancers	Placenta	Placenta
21	chr8:54858000-54859200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr8:54858000-54863600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr8:54858000-54867800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:54858000-54870800	Weak transcription	Brain Anterior Caudate	brain
25	chr8:54858000-54870800	Weak transcription	Fetal Muscle Leg	muscle
26	chr8:54858000-54871400	Weak transcription	Primary B cells from cord blood	blood
27	chr8:54858000-54872000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr8:54858200-54858600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:54858200-54858600	Flanking Active TSS	HepG2	liver
30	chr8:54858200-54858600	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr8:54858200-54858800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:54858200-54858800	Active TSS	HMEC	breast
33	chr8:54858200-54859000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr8:54858200-54859400	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr8:54858200-54859400	Enhancers	HUVEC	blood vessel
36	chr8:54858200-54859600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:54858200-54868400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr8:54858200-54872200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr8:54858200-54872600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr8:54858200-54872600	Weak transcription	Brain Hippocampus Middle	brain
41	chr8:54858200-54879000	Weak transcription	Right Atrium	heart
42	chr8:54858400-54858600	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr8:54858400-54858600	Flanking Active TSS	Hela-S3	cervix
44	chr8:54858400-54858800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr8:54858400-54858800	Weak transcription	Aorta	Aorta
46	chr8:54858400-54858800	Enhancers	NHLF	lung
47	chr8:54858400-54859000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr8:54858400-54859000	Enhancers	NHDF-Ad	bronchial
49	chr8:54858400-54859200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr8:54858400-54859200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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