Variant report

Variant	rs9954565
Chromosome Location	chr18:43716374-43716375
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11663162	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11875115	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12605796	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12606184	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12959543	0.83[ASN][1000 genomes]
rs12959827	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12963169	0.82[ASN][1000 genomes]
rs12970379	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1612622	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1618124	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1620584	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1620609	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1626506	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1627084	0.81[EUR][1000 genomes]
rs1632043	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1658904	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1658905	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1658906	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1658907	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1658908	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1791400	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1791401	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1791406	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1791407	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1791408	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1791410	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1791411	0.86[ASN][1000 genomes]
rs1791412	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1791413	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1791414	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1791421	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1866322	0.82[ASN][1000 genomes]
rs28497462	0.82[ASN][1000 genomes]
rs2886001	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35029196	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35211836	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35338711	0.82[ASN][1000 genomes]
rs4274509	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4315430	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4316847	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6507665	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6507667	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6507675	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7226736	0.82[ASN][1000 genomes]
rs7228642	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7233665	0.80[ASN][1000 genomes]
rs7234588	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7242845	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8089015	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8090410	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8096643	0.84[ASN][1000 genomes]
rs9954133	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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43685200-43735600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr18:43685400-43717200	Weak transcription	HepG2	liver
3	chr18:43685400-43729000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr18:43685400-43732200	Weak transcription	Fetal Kidney	kidney
5	chr18:43694600-43717400	Weak transcription	Brain Anterior Caudate	brain
6	chr18:43706200-43747800	Weak transcription	Brain Substantia Nigra	brain
7	chr18:43707600-43735800	Weak transcription	Primary B cells from cord blood	blood
8	chr18:43708600-43723400	Weak transcription	Fetal Lung	lung
9	chr18:43710000-43723600	Weak transcription	HSMM	muscle
10	chr18:43710000-43732000	Weak transcription	Right Ventricle	heart
11	chr18:43710200-43727800	Weak transcription	Fetal Intestine Large	intestine
12	chr18:43710200-43728800	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr18:43710400-43717000	Weak transcription	Esophagus	oesophagus
14	chr18:43710400-43717200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr18:43710400-43718800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr18:43710400-43722200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr18:43710400-43722800	Weak transcription	Aorta	Aorta
18	chr18:43710400-43732400	Weak transcription	Lung	lung
19	chr18:43710400-43733000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr18:43710600-43717600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr18:43710600-43752800	Weak transcription	Fetal Brain Female	brain
22	chr18:43710800-43732000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr18:43711000-43717000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr18:43711000-43717400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr18:43711000-43719800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr18:43711000-43728600	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr18:43711000-43735600	Weak transcription	Primary B cells from peripheral blood	blood
28	chr18:43711200-43719000	Weak transcription	Dnd41	blood
29	chr18:43711200-43732000	Weak transcription	Fetal Muscle Leg	muscle
30	chr18:43712200-43717000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr18:43712200-43717400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr18:43712200-43720200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr18:43712200-43721400	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr18:43712200-43732000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr18:43712400-43721200	Weak transcription	Fetal Stomach	stomach
36	chr18:43712400-43723200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr18:43712400-43739200	Weak transcription	Fetal Intestine Small	intestine
38	chr18:43714000-43725400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr18:43714000-43728600	Weak transcription	Primary T cells from cord blood	blood
40	chr18:43714000-43748400	Weak transcription	Ovary	ovary
41	chr18:43715200-43723400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr18:43715400-43717200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr18:43715400-43717400	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr18:43715400-43717400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr18:43715400-43717400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr18:43715600-43717200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr18:43715600-43717400	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr18:43715600-43717400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr18:43715600-43725600	Weak transcription	Primary hematopoietic stem cells	blood
50	chr18:43715600-43732000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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