Variant report

Variant	rs2852319
Chromosome Location	chr18:29248478-29248479
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1449085	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs1449086	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1667271	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1667288	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1667290	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1791172	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1791175	0.94[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2595372	0.93[CHB][hapmap];0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv909519	chr18:29172865-29330214	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv1831348	chr18:29205526-29268786	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1059078	chr18:29225522-29454980	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv543675	chr18:29225522-29454980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29219200-29252000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr18:29219200-29252000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr18:29227600-29252000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr18:29229400-29252800	Weak transcription	NHEK	skin
5	chr18:29231800-29251800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr18:29235600-29254800	Weak transcription	HUVEC	blood vessel
7	chr18:29235600-29257800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr18:29239000-29252000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr18:29239200-29252200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr18:29239400-29252200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr18:29239600-29249200	Weak transcription	Dnd41	blood
12	chr18:29239600-29252000	Weak transcription	Adipose Nuclei	Adipose
13	chr18:29239600-29252600	Weak transcription	Fetal Muscle Leg	muscle
14	chr18:29239600-29253200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr18:29239600-29258000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr18:29239800-29249800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr18:29239800-29252800	Weak transcription	Fetal Thymus	thymus
18	chr18:29240000-29249200	Weak transcription	Fetal Intestine Large	intestine
19	chr18:29241200-29252600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr18:29241200-29253200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr18:29242400-29252000	Weak transcription	Fetal Intestine Small	intestine
22	chr18:29242400-29252200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr18:29242400-29252600	Weak transcription	Fetal Lung	lung
24	chr18:29242400-29252800	Weak transcription	A549	lung
25	chr18:29242600-29252800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr18:29244200-29251600	Weak transcription	GM12878-XiMat	blood
27	chr18:29244200-29252400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr18:29244400-29252200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr18:29244400-29252400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr18:29244600-29252200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr18:29244600-29255400	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr18:29244600-29257600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr18:29245200-29252000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr18:29245200-29252400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr18:29245800-29252400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr18:29246200-29251800	Weak transcription	Primary hematopoietic stem cells	blood
37	chr18:29246400-29250200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr18:29247400-29250000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr18:29247400-29251800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr18:29247400-29252000	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr18:29247600-29252800	Weak transcription	Osteobl	bone
42	chr18:29247800-29251600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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