Variant report

Variant	rs9954816
Chromosome Location	chr18:13365962-13365963
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1107340	0.81[ASN][1000 genomes]
rs11080646	0.97[ASN][1000 genomes]
rs11663785	0.86[EUR][1000 genomes]
rs2276392	0.82[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs35815061	0.82[ASN][1000 genomes]
rs4602105	0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs6505807	0.88[ASN][1000 genomes]
rs7227361	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7229983	0.84[ASN][1000 genomes]
rs7237577	0.96[ASN][1000 genomes]
rs8088874	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs981621	0.94[ASN][1000 genomes]
rs9946524	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9954359	0.81[ASN][1000 genomes]
rs9957334	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9960893	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531246	chr18:13298774-14082028	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13351800-13374800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr18:13354200-13371800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr18:13354200-13372000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr18:13354400-13371200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr18:13355000-13374200	Weak transcription	Dnd41	blood
6	chr18:13356400-13379200	Weak transcription	Aorta	Aorta
7	chr18:13359400-13379400	Weak transcription	Psoas Muscle	Psoas
8	chr18:13360000-13366600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr18:13360200-13366800	Weak transcription	Brain Substantia Nigra	brain
10	chr18:13361600-13369400	Weak transcription	Pancreas	Pancrea
11	chr18:13362000-13367200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr18:13362000-13374600	Weak transcription	Fetal Muscle Leg	muscle
13	chr18:13363200-13367200	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr18:13363200-13369800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr18:13363600-13366600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr18:13363600-13366800	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr18:13363600-13369200	Weak transcription	Fetal Heart	heart
18	chr18:13363800-13366800	Weak transcription	Brain Germinal Matrix	brain
19	chr18:13364200-13371400	Enhancers	Fetal Thymus	thymus
20	chr18:13365000-13369000	Weak transcription	HepG2	liver
21	chr18:13365200-13366200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr18:13365200-13367000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr18:13365200-13367000	Weak transcription	Left Ventricle	heart
24	chr18:13365200-13367400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr18:13365200-13367400	Weak transcription	Right Atrium	heart
26	chr18:13365200-13367600	Weak transcription	Spleen	Spleen
27	chr18:13365200-13368800	Enhancers	Brain Anterior Caudate	brain
28	chr18:13365200-13369400	Weak transcription	Primary T cells from cord blood	blood
29	chr18:13365200-13372200	Weak transcription	Brain Angular Gyrus	brain
30	chr18:13365400-13366000	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr18:13365400-13366600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr18:13365400-13367000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr18:13365400-13368800	Weak transcription	Right Ventricle	heart
34	chr18:13365600-13366000	Weak transcription	Brain Hippocampus Middle	brain
35	chr18:13365600-13366400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr18:13365600-13366600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr18:13365600-13366800	Weak transcription	Thymus	Thymus
38	chr18:13365600-13367000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr18:13365600-13367000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr18:13365600-13369200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr18:13365600-13369200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr18:13365600-13369600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr18:13365800-13366200	Weak transcription	Fetal Stomach	stomach
44	chr18:13365800-13366800	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr18:13365800-13366800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr18:13365800-13369000	Weak transcription	Colon Smooth Muscle	Colon
47	chr18:13365800-13369000	Weak transcription	Stomach Smooth Muscle	stomach
48	chr18:13365800-13370000	Weak transcription	Fetal Brain Male	brain
49	chr18:13365800-13371200	Weak transcription	Fetal Brain Female	brain
50	chr18:13365800-13376400	Weak transcription	Liver	Liver

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