Variant report

Variant	rs1620584
Chromosome Location	chr18:43714699-43714700
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11663162	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11875115	0.82[EUR][1000 genomes]
rs12605796	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12959827	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12970379	0.82[EUR][1000 genomes]
rs1612622	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1620609	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1626506	0.87[EUR][1000 genomes]
rs1627084	0.86[EUR][1000 genomes]
rs1632043	0.87[EUR][1000 genomes]
rs1658904	0.89[EUR][1000 genomes]
rs1658905	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1658906	0.82[EUR][1000 genomes]
rs1658907	0.82[EUR][1000 genomes]
rs1658908	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1791400	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1791401	0.87[EUR][1000 genomes]
rs1791406	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1791407	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1791408	0.83[EUR][1000 genomes]
rs1791410	0.82[EUR][1000 genomes]
rs1791412	0.83[EUR][1000 genomes]
rs1791413	0.83[EUR][1000 genomes]
rs1791414	0.84[EUR][1000 genomes]
rs1791421	0.87[EUR][1000 genomes]
rs2886001	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35029196	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35211836	0.81[EUR][1000 genomes]
rs36122010	0.81[ASN][1000 genomes]
rs4243278	0.81[ASN][1000 genomes]
rs4274509	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4315430	0.82[EUR][1000 genomes]
rs4316847	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4890625	0.81[ASN][1000 genomes]
rs6507665	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6507667	0.82[EUR][1000 genomes]
rs6507669	0.81[ASN][1000 genomes]
rs6507675	0.81[EUR][1000 genomes]
rs7228642	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7229971	0.82[ASN][1000 genomes]
rs7234588	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7242845	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8089015	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8090410	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9954565	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9954577	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062024	chr18:43589516-43749410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv543694	chr18:43589516-43749410	Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43685200-43715200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr18:43685200-43735600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr18:43685400-43714800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr18:43685400-43714800	Weak transcription	NHDF-Ad	bronchial
5	chr18:43685400-43717200	Weak transcription	HepG2	liver
6	chr18:43685400-43729000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr18:43685400-43732200	Weak transcription	Fetal Kidney	kidney
8	chr18:43690000-43715600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr18:43694200-43715600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr18:43694600-43717400	Weak transcription	Brain Anterior Caudate	brain
11	chr18:43695000-43714800	Weak transcription	HSMMtube	muscle
12	chr18:43695000-43715200	Weak transcription	K562	blood
13	chr18:43702800-43715000	Weak transcription	NHLF	lung
14	chr18:43702800-43715200	Weak transcription	Brain Angular Gyrus	brain
15	chr18:43705200-43714800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr18:43706000-43714800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr18:43706200-43747800	Weak transcription	Brain Substantia Nigra	brain
18	chr18:43707600-43735800	Weak transcription	Primary B cells from cord blood	blood
19	chr18:43708600-43723400	Weak transcription	Fetal Lung	lung
20	chr18:43709000-43715200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr18:43709400-43714800	Weak transcription	Fetal Heart	heart
22	chr18:43710000-43723600	Weak transcription	HSMM	muscle
23	chr18:43710000-43732000	Weak transcription	Right Ventricle	heart
24	chr18:43710200-43714800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr18:43710200-43714800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr18:43710200-43714800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr18:43710200-43714800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr18:43710200-43714800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr18:43710200-43715200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr18:43710200-43727800	Weak transcription	Fetal Intestine Large	intestine
31	chr18:43710200-43728800	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr18:43710400-43714800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr18:43710400-43714800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr18:43710400-43714800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr18:43710400-43715000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr18:43710400-43715000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr18:43710400-43715000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr18:43710400-43715600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr18:43710400-43716000	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr18:43710400-43717000	Weak transcription	Esophagus	oesophagus
41	chr18:43710400-43717200	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr18:43710400-43718800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr18:43710400-43722200	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr18:43710400-43722800	Weak transcription	Aorta	Aorta
45	chr18:43710400-43732400	Weak transcription	Lung	lung
46	chr18:43710400-43733000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr18:43710600-43717600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr18:43710600-43752800	Weak transcription	Fetal Brain Female	brain
49	chr18:43710800-43732000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr18:43711000-43714800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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