Variant report

Variant	rs28566847
Chromosome Location	chr18:12493375-12493376
allele	A/G
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:11)

rs_ID	r²[population]
rs28412561	1.00[AMR][1000 genomes]
rs28621703	1.00[AMR][1000 genomes]
rs487179	1.00[AMR][1000 genomes]
rs9944857	1.00[AMR][1000 genomes]
rs9947085	1.00[AMR][1000 genomes]
rs9954201	1.00[AMR][1000 genomes]
rs9956807	1.00[AMR][1000 genomes]
rs9962946	1.00[AMR][1000 genomes]
rs9963155	1.00[AMR][1000 genomes]
rs9963394	1.00[AMR][1000 genomes]
rs9965591	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
3	nsv909400	chr18:12201374-12585545	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	esv2758471	chr18:12240681-12499525	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
5	esv2758714	chr18:12240681-12499525	Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	nsv1060808	chr18:12302792-12514417	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
7	esv3528039	chr18:12396582-12851293	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
8	esv3528041	chr18:12396641-12851245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
9	nsv2208	chr18:12472999-12518189	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv523743	chr18:12474505-12742809	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	esv2756075	chr18:12481377-12548970	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12460200-12516600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr18:12461400-12495400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr18:12465600-12500800	Weak transcription	Fetal Intestine Large	intestine
4	chr18:12472600-12495200	Weak transcription	Colonic Mucosa	Colon
5	chr18:12478400-12512600	Weak transcription	Fetal Intestine Small	intestine
6	chr18:12478600-12496000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr18:12478600-12498400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr18:12478600-12506400	Weak transcription	Right Ventricle	heart
9	chr18:12478600-12510800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr18:12478800-12497400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr18:12478800-12499600	Weak transcription	NHLF	lung
12	chr18:12478800-12504800	Weak transcription	Gastric	stomach
13	chr18:12478800-12505800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr18:12478800-12514200	Weak transcription	NH-A	brain
15	chr18:12478800-12515800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr18:12478800-12515800	Weak transcription	Placenta	Placenta
17	chr18:12478800-12551800	Weak transcription	Pancreas	Pancrea
18	chr18:12480800-12497200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr18:12480800-12511000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr18:12481000-12499200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr18:12484000-12496200	Strong transcription	HSMM	muscle
22	chr18:12486200-12504600	Weak transcription	HMEC	breast
23	chr18:12488000-12496000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr18:12488400-12496200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr18:12490200-12503400	Weak transcription	Brain Angular Gyrus	brain
26	chr18:12490400-12496000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr18:12490400-12502800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr18:12490800-12494000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr18:12490800-12494000	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr18:12491000-12496400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr18:12491200-12494000	Weak transcription	A549	lung
32	chr18:12491200-12495800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr18:12491200-12495800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr18:12491400-12493400	Strong transcription	Adipose Nuclei	Adipose
35	chr18:12491400-12493400	Strong transcription	Ovary	ovary
36	chr18:12491400-12493800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr18:12491400-12494000	Strong transcription	Fetal Lung	lung
38	chr18:12491400-12494200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr18:12491400-12494200	Strong transcription	Brain Anterior Caudate	brain
40	chr18:12491400-12494400	Strong transcription	Brain Germinal Matrix	brain
41	chr18:12491400-12494600	Strong transcription	Fetal Muscle Leg	muscle
42	chr18:12491400-12494600	Strong transcription	NHDF-Ad	bronchial
43	chr18:12491400-12495400	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr18:12491400-12496000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr18:12491400-12496000	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr18:12491400-12496200	Strong transcription	Fetal Brain Female	brain
47	chr18:12491400-12496200	Strong transcription	Osteobl	bone
48	chr18:12491600-12493400	Strong transcription	Brain Substantia Nigra	brain
49	chr18:12491600-12493800	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr18:12491600-12494200	Strong transcription	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links