Variant report

Variant	rs8084338
Chromosome Location	chr18:45384144-45384145
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr18:45384020-45384214	Hela-S3	cervix:	n/a	n/a
2	GATA3	chr18:45384118-45384300	SH-SY5Y	brain:	n/a	n/a
3	POLR2A	chr18:45383827-45384810	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000267541	TF binding region

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11872548	1.00[AMR][1000 genomes]
rs11875051	1.00[AMR][1000 genomes]
rs11875783	1.00[AMR][1000 genomes]
rs11877848	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12327508	1.00[EUR][1000 genomes]
rs12968971	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12969668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16957829	1.00[EUR][1000 genomes]
rs16957841	1.00[EUR][1000 genomes]
rs28455633	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28465195	1.00[AMR][1000 genomes]
rs28622478	1.00[AMR][1000 genomes]
rs28683114	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28769310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61238329	1.00[AMR][1000 genomes]
rs6507788	0.88[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7228619	0.87[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7233149	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7235743	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7240327	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73953631	1.00[AMR][1000 genomes]
rs73953632	1.00[AMR][1000 genomes]
rs73953633	1.00[AMR][1000 genomes]
rs8083042	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8085805	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8085921	0.87[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8087218	0.85[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8092786	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs8096366	0.87[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8098860	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9945033	1.00[EUR][1000 genomes]
rs9947095	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9947563	1.00[EUR][1000 genomes]
rs9947712	1.00[AMR][1000 genomes]
rs9951883	1.00[AMR][1000 genomes]
rs9952115	0.87[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9952878	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9952992	1.00[AMR][1000 genomes]
rs9957678	1.00[AMR][1000 genomes]
rs9958863	0.87[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9960371	1.00[EUR][1000 genomes]
rs9962367	1.00[EUR][1000 genomes]
rs9965552	0.85[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9965717	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45342200-45384200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr18:45345400-45400200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr18:45366200-45390000	Weak transcription	Colonic Mucosa	Colon
4	chr18:45366600-45408200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr18:45369800-45386400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr18:45372200-45386200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr18:45372200-45396000	Weak transcription	NHLF	lung
8	chr18:45375200-45384200	Weak transcription	K562	blood
9	chr18:45380600-45386800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr18:45381200-45386800	ZNF genes & repeats	Fetal Lung	lung
11	chr18:45381200-45387000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
12	chr18:45381400-45385800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
13	chr18:45381400-45385800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
14	chr18:45381600-45384600	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
15	chr18:45381600-45386000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
16	chr18:45381600-45386600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
17	chr18:45381800-45384200	Strong transcription	HSMMtube	muscle
18	chr18:45381800-45384400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
19	chr18:45381800-45385400	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
20	chr18:45381800-45385600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr18:45381800-45385800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr18:45381800-45385800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr18:45381800-45386600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr18:45381800-45387800	ZNF genes & repeats	Dnd41	blood
25	chr18:45382000-45384400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
26	chr18:45382200-45387000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr18:45382200-45420400	Weak transcription	Right Ventricle	heart
28	chr18:45382400-45384200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr18:45382400-45386200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr18:45382400-45386400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
31	chr18:45382400-45387600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr18:45382600-45384200	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr18:45382600-45384200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr18:45382600-45389600	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr18:45382800-45384600	Weak transcription	Brain Substantia Nigra	brain
36	chr18:45383000-45384200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr18:45383000-45389600	Weak transcription	Fetal Heart	heart
38	chr18:45383000-45396600	Strong transcription	Hela-S3	cervix
39	chr18:45383400-45385600	ZNF genes & repeats	NHDF-Ad	bronchial
40	chr18:45383400-45386400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
41	chr18:45383600-45384400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
42	chr18:45383600-45384400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
43	chr18:45383600-45384400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr18:45383600-45384400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr18:45383600-45384800	ZNF genes & repeats	Colon Smooth Muscle	Colon
46	chr18:45383600-45385400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr18:45383600-45385800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
48	chr18:45383600-45385800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
49	chr18:45383600-45386600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
50	chr18:45383600-45387000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell

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