Variant report

Variant	rs1791187
Chromosome Location	chr18:29161836-29161837
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1449083	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1620287	0.91[AMR][1000 genomes]
rs1631020	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1667238	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1667241	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1667243	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1667245	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1667246	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1667250	0.95[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1667251	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1667252	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1667253	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1791186	1.00[ASN][1000 genomes]
rs1791188	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1791191	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1791227	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.90[ASN][1000 genomes]
rs2704059	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2704061	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58114875	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9304103	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9947284	0.91[AMR][1000 genomes]

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	nsv1066692	chr18:28856066-29190505	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv543674	chr18:28856066-29190505	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv916545	chr18:28898800-29166364	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv833615	chr18:29008396-29192976	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv576636	chr18:29146822-29190174	Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1066881	chr18:29149752-29180840	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29156400-29163200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr18:29158000-29162400	Enhancers	Fetal Intestine Large	intestine
3	chr18:29159200-29163400	Enhancers	Primary hematopoietic stem cells	blood
4	chr18:29159200-29163400	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr18:29159400-29166400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr18:29159800-29166200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr18:29160200-29163800	Enhancers	Liver	Liver
8	chr18:29160800-29164600	Enhancers	HepG2	liver
9	chr18:29161000-29162200	Enhancers	Fetal Intestine Small	intestine
10	chr18:29161000-29162200	Enhancers	HSMMtube	muscle
11	chr18:29161000-29162600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr18:29161000-29163800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr18:29161000-29167000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr18:29161400-29162000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr18:29161400-29162200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr18:29161400-29162200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr18:29161400-29162200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr18:29161400-29162200	Enhancers	HUVEC	blood vessel
19	chr18:29161400-29162600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr18:29161600-29162200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr18:29161600-29162200	Enhancers	Placenta Amnion	Placenta Amnion
22	chr18:29161600-29162200	Enhancers	NHEK	skin
23	chr18:29161600-29162400	Enhancers	Colon Smooth Muscle	Colon
24	chr18:29161600-29166400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr18:29161800-29162000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr18:29161800-29162000	Enhancers	Placenta	Placenta
27	chr18:29161800-29162200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr18:29161800-29163200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr18:29161800-29166400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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