Variant report

Variant	rs9952750
Chromosome Location	chr18:45386703-45386704
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs9304356	1.00[AMR][1000 genomes]
rs9945835	1.00[AMR][1000 genomes]
rs9955936	1.00[AMR][1000 genomes]
rs9961878	1.00[AMR][1000 genomes]
rs9963052	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057722	chr18:45343965-45401360	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv1058673	chr18:45360012-45404492	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv1059186	chr18:45360012-45407405	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1062894	chr18:45368587-45387738	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv1066394	chr18:45368587-45394386	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv1060581	chr18:45368587-45397623	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv1057525	chr18:45368587-45407405	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
8	nsv1064282	chr18:45369857-45404768	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	nsv1064797	chr18:45372027-45394386	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv1063859	chr18:45372027-45404492	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv1062318	chr18:45374239-45394780	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv1055814	chr18:45374239-45395377	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv1057298	chr18:45374239-45404428	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv1062731	chr18:45374239-45404768	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv1058128	chr18:45374658-45394780	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	nsv1065607	chr18:45374658-45404751	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv1059619	chr18:45384301-45401360	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv1066646	chr18:45384301-45406242	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
19	nsv1057028	chr18:45384301-45410482	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45345400-45400200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr18:45366200-45390000	Weak transcription	Colonic Mucosa	Colon
3	chr18:45366600-45408200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr18:45372200-45396000	Weak transcription	NHLF	lung
5	chr18:45380600-45386800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr18:45381200-45386800	ZNF genes & repeats	Fetal Lung	lung
7	chr18:45381200-45387000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
8	chr18:45381800-45387800	ZNF genes & repeats	Dnd41	blood
9	chr18:45382200-45387000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr18:45382200-45420400	Weak transcription	Right Ventricle	heart
11	chr18:45382400-45387600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr18:45382600-45389600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr18:45383000-45389600	Weak transcription	Fetal Heart	heart
14	chr18:45383000-45396600	Strong transcription	Hela-S3	cervix
15	chr18:45383600-45387000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
16	chr18:45383600-45392400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr18:45383800-45387400	ZNF genes & repeats	Primary T cells from cord blood	blood
18	chr18:45383800-45388400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr18:45383800-45388400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
20	chr18:45384000-45386800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
21	chr18:45384000-45387000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr18:45384000-45387000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr18:45384000-45387000	ZNF genes & repeats	GM12878-XiMat	blood
24	chr18:45384000-45387400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
25	chr18:45384000-45388200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr18:45384200-45386800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
27	chr18:45384200-45398800	Weak transcription	Pancreas	Pancrea
28	chr18:45384200-45421200	Weak transcription	Gastric	stomach
29	chr18:45384200-45423000	Weak transcription	Lung	lung
30	chr18:45384400-45388000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr18:45384400-45388600	Weak transcription	Psoas Muscle	Psoas
32	chr18:45384400-45389600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr18:45384400-45390200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr18:45384400-45390200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr18:45384400-45392200	Strong transcription	HSMM	muscle
36	chr18:45384400-45397600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr18:45384400-45397800	Weak transcription	Small Intestine	intestine
38	chr18:45384400-45400200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr18:45384400-45401200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr18:45384400-45410200	Weak transcription	Aorta	Aorta
41	chr18:45384400-45419600	Weak transcription	K562	blood
42	chr18:45384400-45423000	Weak transcription	Spleen	Spleen
43	chr18:45384600-45396600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr18:45384600-45399000	Weak transcription	Right Atrium	heart
45	chr18:45384800-45387800	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr18:45384800-45388800	Weak transcription	NH-A	brain
47	chr18:45384800-45389400	Weak transcription	HSMMtube	muscle
48	chr18:45384800-45392200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr18:45384800-45392600	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr18:45384800-45396800	Weak transcription	Colon Smooth Muscle	Colon

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