Variant report

Variant	rs4392943
Chromosome Location	chr8:66523799-66523800
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs17302765	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17303038	1.00[AFR][1000 genomes]
rs17304488	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17304551	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17304921	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17394029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17394294	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17395190	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17395394	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17395656	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17395816	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17395851	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17395878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17395920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17396004	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17396066	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17396192	0.85[AMR][1000 genomes]
rs35688380	0.81[AMR][1000 genomes]
rs3935203	0.81[AMR][1000 genomes]
rs4515591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6996048	0.81[AMR][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	esv2761434	chr8:65578467-66567678	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66500800-66524400	Weak transcription	Psoas Muscle	Psoas
2	chr8:66504000-66545200	Weak transcription	Fetal Brain Male	brain
3	chr8:66506800-66545200	Weak transcription	Stomach Mucosa	stomach
4	chr8:66507800-66538000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:66508000-66545200	Weak transcription	Fetal Heart	heart
6	chr8:66510600-66528200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:66512800-66526400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr8:66513800-66525600	Strong transcription	Fetal Intestine Large	intestine
9	chr8:66513800-66527800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr8:66513800-66528000	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr8:66513800-66528200	Strong transcription	Fetal Thymus	thymus
12	chr8:66513800-66528400	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr8:66514000-66527800	Strong transcription	Primary B cells from peripheral blood	blood
14	chr8:66514000-66528200	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr8:66514000-66528200	Strong transcription	Adipose Nuclei	Adipose
16	chr8:66514000-66528400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr8:66514000-66528400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:66514000-66528400	Strong transcription	Placenta	Placenta
19	chr8:66514200-66526800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr8:66514200-66527600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr8:66514200-66527600	Strong transcription	Duodenum Smooth Muscle	Duodenum
22	chr8:66514200-66528000	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr8:66514200-66528200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:66514200-66528400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr8:66514200-66528400	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr8:66514200-66528600	Strong transcription	Dnd41	blood
27	chr8:66514200-66528800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:66514200-66528800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:66514400-66527600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:66514600-66539200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr8:66514800-66525800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr8:66514800-66527600	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr8:66514800-66528400	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr8:66514800-66528400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr8:66514800-66528800	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr8:66515000-66528000	Strong transcription	Primary T cells from cord blood	blood
37	chr8:66515200-66528400	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr8:66515400-66527600	Strong transcription	Brain Anterior Caudate	brain
39	chr8:66515600-66528000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr8:66516000-66525600	Strong transcription	Fetal Brain Female	brain
41	chr8:66516200-66527200	Strong transcription	Fetal Muscle Trunk	muscle
42	chr8:66516400-66525800	Strong transcription	Fetal Muscle Leg	muscle
43	chr8:66516400-66528400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr8:66516400-66528800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr8:66516600-66526200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr8:66516800-66525400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr8:66517000-66533200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr8:66517000-66538400	Weak transcription	Small Intestine	intestine
49	chr8:66517200-66524200	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr8:66517200-66524400	Weak transcription	Gastric	stomach

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