Variant report

Variant	rs2848464
Chromosome Location	chr18:11870805-11870806
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11874959	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12454601	0.98[ASN][1000 genomes]
rs16976774	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2071138	0.85[EUR][1000 genomes]
rs2071139	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2071140	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2071141	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2586208	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2586211	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2848454	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2848455	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2848462	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2848463	0.85[EUR][1000 genomes]
rs2848465	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2848466	0.98[ASN][1000 genomes]
rs2848467	0.98[ASN][1000 genomes]
rs2855638	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2855639	0.84[EUR][1000 genomes]
rs2855645	0.84[EUR][1000 genomes]
rs2855646	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2855648	0.98[ASN][1000 genomes]
rs2855649	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2859542	0.85[EUR][1000 genomes]
rs72870404	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs787554	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs787557	0.93[ASN][1000 genomes]
rs787558	0.91[ASN][1000 genomes]
rs787559	0.93[ASN][1000 genomes]
rs9303750	0.93[ASN][1000 genomes]
rs9303751	0.93[ASN][1000 genomes]
rs9947329	0.98[ASN][1000 genomes]
rs9947607	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3362008	chr18:11647654-11959830	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv833590	chr18:11757329-11924539	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1055453	chr18:11776790-12110135	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv543654	chr18:11776790-12110135	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
5	nsv909382	chr18:11870015-11892860	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11852400-11880800	Weak transcription	Aorta	Aorta
2	chr18:11853600-11883800	Weak transcription	Ovary	ovary
3	chr18:11853800-11884200	Weak transcription	Brain Substantia Nigra	brain
4	chr18:11854000-11875000	Weak transcription	Brain Hippocampus Middle	brain
5	chr18:11854000-11884200	Weak transcription	Brain Angular Gyrus	brain
6	chr18:11854800-11889200	Weak transcription	Fetal Brain Male	brain
7	chr18:11855400-11875400	Weak transcription	Fetal Stomach	stomach
8	chr18:11855600-11880800	Weak transcription	Fetal Brain Female	brain
9	chr18:11857600-11872800	Weak transcription	Left Ventricle	heart
10	chr18:11857800-11875200	Weak transcription	Brain Germinal Matrix	brain
11	chr18:11857800-11876400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr18:11858200-11884000	Weak transcription	Colon Smooth Muscle	Colon
13	chr18:11858600-11875800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr18:11858600-11879400	Weak transcription	Adipose Nuclei	Adipose
15	chr18:11859000-11886400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr18:11859200-11875600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr18:11860200-11875200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr18:11860200-11875400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr18:11861000-11880800	Weak transcription	Esophagus	oesophagus
20	chr18:11861600-11873400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr18:11861800-11872600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr18:11861800-11887800	Weak transcription	Psoas Muscle	Psoas
23	chr18:11862400-11871400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr18:11862400-11879200	Weak transcription	Spleen	Spleen
25	chr18:11862600-11872000	Weak transcription	Hela-S3	cervix
26	chr18:11865400-11874200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr18:11865800-11872400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr18:11866400-11873400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr18:11867000-11872800	Weak transcription	Brain Anterior Caudate	brain
30	chr18:11867200-11884000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr18:11867200-11884400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr18:11867400-11880800	Weak transcription	Duodenum Mucosa	Duodenum
33	chr18:11868200-11875400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr18:11868600-11873600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr18:11868800-11873400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr18:11868800-11877600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr18:11869000-11874000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr18:11869000-11875600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr18:11869000-11876000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr18:11869000-11877800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr18:11869000-11877800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr18:11869600-11871600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr18:11870200-11871800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr18:11870200-11872400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr18:11870200-11872600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr18:11870200-11872600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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