Variant report

Variant	rs8087218
Chromosome Location	chr18:45381457-45381458
allele	A/G
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	chr18:45381256-45381687	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr18:45381273-45383044	A549	lung:	n/a	n/a
3	POLR2A	chr18:45381207-45383097	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000267541	TF binding region

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11872548	1.00[AMR][1000 genomes]
rs11875051	1.00[AMR][1000 genomes]
rs11875783	1.00[AMR][1000 genomes]
rs11877848	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12327508	1.00[EUR][1000 genomes]
rs12968971	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12969668	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]
rs28622478	1.00[AMR][1000 genomes]
rs28683114	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28769310	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61238329	1.00[AMR][1000 genomes]
rs6507788	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7228619	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7233149	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7235743	0.85[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7240327	0.83[YRI][hapmap];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]
rs8084338	0.85[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8085805	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8085921	0.85[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8092786	0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs8096366	0.85[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8098860	1.00[YRI][hapmap];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	0.85[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9952878	0.85[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9952992	1.00[AMR][1000 genomes]
rs9957678	1.00[AMR][1000 genomes]
rs9958863	0.85[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	0.82[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:116 , 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	chr18:45347600-45381800	Weak transcription	Right Ventricle	heart
4	chr18:45354600-45381800	Weak transcription	Fetal Intestine Small	intestine
5	chr18:45356200-45384000	Weak transcription	Spleen	Spleen
6	chr18:45358800-45382400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr18:45365800-45381800	Weak transcription	Psoas Muscle	Psoas
8	chr18:45366000-45381800	Weak transcription	Aorta	Aorta
9	chr18:45366200-45390000	Weak transcription	Colonic Mucosa	Colon
10	chr18:45366400-45384000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr18:45366400-45384000	Weak transcription	Brain Angular Gyrus	brain
12	chr18:45366400-45384000	Weak transcription	Esophagus	oesophagus
13	chr18:45366600-45408200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr18:45368200-45384000	Weak transcription	Stomach Mucosa	stomach
15	chr18:45369000-45381800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr18:45369600-45381800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr18:45369600-45382000	Weak transcription	Fetal Brain Female	brain
18	chr18:45369800-45383600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr18:45369800-45384000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr18:45369800-45384000	Weak transcription	Fetal Stomach	stomach
21	chr18:45369800-45386400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr18:45371800-45382000	Weak transcription	Fetal Heart	heart
23	chr18:45371800-45382200	Weak transcription	Fetal Brain Male	brain
24	chr18:45372000-45381800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr18:45372000-45384000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr18:45372200-45381800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr18:45372200-45381800	Weak transcription	Colon Smooth Muscle	Colon
28	chr18:45372200-45381800	Weak transcription	Lung	lung
29	chr18:45372200-45381800	Weak transcription	HSMMtube	muscle
30	chr18:45372200-45382400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr18:45372200-45386200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr18:45372200-45396000	Weak transcription	NHLF	lung
33	chr18:45373000-45381800	Weak transcription	Placenta	Placenta
34	chr18:45373200-45381800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr18:45373200-45381800	Weak transcription	Ovary	ovary
36	chr18:45373200-45381800	Weak transcription	Thymus	Thymus
37	chr18:45373200-45382000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr18:45373200-45382000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr18:45373200-45384000	Weak transcription	Gastric	stomach
40	chr18:45373200-45384000	Weak transcription	Pancreas	Pancrea
41	chr18:45373400-45381800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr18:45375000-45381600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr18:45375000-45381800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr18:45375000-45381800	Weak transcription	Fetal Muscle Trunk	muscle
45	chr18:45375000-45381800	Weak transcription	Left Ventricle	heart
46	chr18:45375000-45381800	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr18:45375000-45381800	Weak transcription	GM12878-XiMat	blood
48	chr18:45375000-45382000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr18:45375000-45382000	Weak transcription	NHDF-Ad	bronchial
50	chr18:45375200-45381600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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