Variant report

Variant	rs1942158
Chromosome Location	chr18:45424204-45424205
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:45423330..45425218-chr18:45460389..45462320,2	K562	blood:
2	chr18:45423054..45427118-chr18:45456865..45459520,4	MCF-7	breast:
3	chr18:45422809..45427886-chr18:45455832..45459212,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175387	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10445485	0.85[AFR][1000 genomes]
rs10502890	0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11082641	0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11659463	0.83[AFR][1000 genomes]
rs12457664	0.90[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12458238	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs12968493	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.98[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12969725	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1573362	0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1787186	0.86[CHB][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap]
rs1787196	0.82[AFR][1000 genomes]
rs1787198	0.97[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1787199	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1792658	0.83[YRI][hapmap]
rs1792666	0.87[CHB][hapmap];0.91[JPT][hapmap];0.95[YRI][hapmap]
rs1792667	0.97[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1792668	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1792674	0.81[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes]
rs1792684	0.91[CHB][hapmap];0.90[JPT][hapmap];0.95[YRI][hapmap]
rs1792686	0.95[YRI][hapmap]
rs1792687	0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1792689	1.00[YRI][hapmap]
rs2012555	0.83[YRI][hapmap];0.82[AFR][1000 genomes]
rs4940102	0.91[JPT][hapmap]
rs57620563	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs948602	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv909614	chr18:45419421-45478490	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45397000-45430600	Weak transcription	Brain Angular Gyrus	brain
2	chr18:45400400-45432200	Weak transcription	Ovary	ovary
3	chr18:45400600-45424600	Weak transcription	Stomach Mucosa	stomach
4	chr18:45401200-45426000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr18:45401400-45424600	Weak transcription	Brain Hippocampus Middle	brain
6	chr18:45409200-45426400	Weak transcription	Fetal Kidney	kidney
7	chr18:45410600-45425000	Weak transcription	HSMMtube	muscle
8	chr18:45410800-45424400	Weak transcription	Colon Smooth Muscle	Colon
9	chr18:45410800-45424400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr18:45410800-45424600	Weak transcription	Brain Substantia Nigra	brain
11	chr18:45410800-45424800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr18:45410800-45425800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr18:45410800-45428000	Weak transcription	Aorta	Aorta
14	chr18:45411800-45424600	Strong transcription	Dnd41	blood
15	chr18:45415200-45426000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr18:45415800-45425200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr18:45417400-45426600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr18:45418000-45424600	Weak transcription	Liver	Liver
19	chr18:45418200-45428400	Weak transcription	Thymus	Thymus
20	chr18:45419600-45428000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr18:45420000-45426200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr18:45420600-45425200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr18:45420600-45427000	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr18:45420800-45424600	Weak transcription	Small Intestine	intestine
25	chr18:45420800-45425400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr18:45420800-45433000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr18:45420800-45439600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr18:45421000-45424800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr18:45421000-45425200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr18:45421000-45425800	Genic enhancers	Hela-S3	cervix
31	chr18:45421000-45430600	Weak transcription	Right Ventricle	heart
32	chr18:45421200-45424400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr18:45421200-45424400	Weak transcription	HUVEC	blood vessel
34	chr18:45421200-45436800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr18:45421600-45424400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr18:45421600-45425200	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr18:45421600-45425800	Weak transcription	Brain Germinal Matrix	brain
38	chr18:45421800-45425200	Weak transcription	Fetal Stomach	stomach
39	chr18:45421800-45426600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr18:45421800-45428000	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr18:45421800-45428400	Weak transcription	Psoas Muscle	Psoas
42	chr18:45421800-45430400	Weak transcription	Esophagus	oesophagus
43	chr18:45421800-45430600	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr18:45421800-45437800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr18:45422200-45425800	Weak transcription	GM12878-XiMat	blood
46	chr18:45422200-45429200	Weak transcription	Stomach Smooth Muscle	stomach
47	chr18:45422200-45430600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr18:45422400-45425400	Weak transcription	Brain Anterior Caudate	brain
49	chr18:45422600-45424600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr18:45422600-45425200	Weak transcription	Primary T helper cells fromperipheralblood	blood

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