Variant report

Variant	rs1667273
Chromosome Location	chr18:29240321-29240322
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11664340	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1449085	0.80[YRI][hapmap]
rs1791183	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595370	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2595371	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.94[TSI][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2848683	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55817554	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7233900	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.94[ASN][1000 genomes]
rs7240561	0.86[GIH][hapmap]
rs9949056	1.00[CHB][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:48 , 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	chr18:29227800-29240800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr18:29229200-29245200	Weak transcription	Brain Anterior Caudate	brain
6	chr18:29229400-29252800	Weak transcription	NHEK	skin
7	chr18:29231200-29242400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr18:29231800-29251800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr18:29235600-29254800	Weak transcription	HUVEC	blood vessel
10	chr18:29235600-29257800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr18:29237000-29240800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr18:29237400-29243200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr18:29238000-29240600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr18:29238400-29247000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr18:29238800-29240600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr18:29238800-29241800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr18:29239000-29240600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr18:29239000-29240800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr18:29239000-29252000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr18:29239200-29240400	Weak transcription	Fetal Kidney	kidney
21	chr18:29239200-29241000	Weak transcription	Fetal Lung	lung
22	chr18:29239200-29241600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr18:29239200-29241800	Weak transcription	Osteobl	bone
24	chr18:29239200-29244400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr18:29239200-29252200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr18:29239400-29241600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr18:29239400-29252200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr18:29239600-29240600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr18:29239600-29245200	Weak transcription	Placenta	Placenta
30	chr18:29239600-29249200	Weak transcription	Dnd41	blood
31	chr18:29239600-29252000	Weak transcription	Adipose Nuclei	Adipose
32	chr18:29239600-29252600	Weak transcription	Fetal Muscle Leg	muscle
33	chr18:29239600-29253200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr18:29239600-29258000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr18:29239800-29240400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr18:29239800-29240800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr18:29239800-29243600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr18:29239800-29249800	Weak transcription	Duodenum Mucosa	Duodenum
39	chr18:29239800-29252800	Weak transcription	Fetal Thymus	thymus
40	chr18:29240000-29240400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr18:29240000-29240400	Enhancers	GM12878-XiMat	blood
42	chr18:29240000-29241400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr18:29240000-29242000	Weak transcription	Fetal Intestine Small	intestine
44	chr18:29240000-29243800	Weak transcription	Primary hematopoietic stem cells	blood
45	chr18:29240000-29243800	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr18:29240000-29249200	Weak transcription	Fetal Intestine Large	intestine
47	chr18:29240200-29240600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr18:29240200-29245000	Weak transcription	Primary monocytes fromperipheralblood	blood

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