Variant report

Variant	rs1787189
Chromosome Location	chr18:45356743-45356744
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:45349020..45351185-chr18:45356009..45358662,2	K562	blood:
2	chr18:45355527..45357480-chr18:45358347..45361404,3	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12454094	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1502606	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1623734	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1625400	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1627974	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1787180	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1787183	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1787185	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1787190	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1792659	0.83[EUR][1000 genomes]
rs1792665	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1792671	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1792676	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1792677	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1792679	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1792680	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1792681	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1792682	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1792686	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1792688	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1847173	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1981	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2047778	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2852972	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1787189	SMAD2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45327400-45358400	Weak transcription	HSMMtube	muscle
2	chr18:45333000-45357200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr18:45335400-45365600	Weak transcription	Gastric	stomach
4	chr18:45337600-45357200	Weak transcription	Dnd41	blood
5	chr18:45339600-45359800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr18:45340400-45369400	Weak transcription	Fetal Stomach	stomach
7	chr18:45341000-45364200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr18:45342200-45384200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr18:45342400-45365400	Weak transcription	Psoas Muscle	Psoas
10	chr18:45344000-45361400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr18:45344000-45373000	Weak transcription	Pancreas	Pancrea
12	chr18:45344200-45364800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr18:45344200-45364800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr18:45344400-45359800	Weak transcription	NHDF-Ad	bronchial
15	chr18:45344400-45365400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr18:45344400-45365600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr18:45344600-45358400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr18:45344600-45365400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr18:45344600-45368000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr18:45344800-45362400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr18:45345000-45358400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr18:45345000-45368000	Weak transcription	Colon Smooth Muscle	Colon
23	chr18:45345200-45365400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr18:45345400-45363400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr18:45345400-45400200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr18:45346000-45357400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr18:45346400-45358400	Weak transcription	HSMM	muscle
28	chr18:45346400-45365600	Weak transcription	Esophagus	oesophagus
29	chr18:45346600-45361400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr18:45347600-45381800	Weak transcription	Right Ventricle	heart
31	chr18:45348200-45366200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr18:45348400-45359800	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr18:45348400-45365600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr18:45348400-45365600	Weak transcription	NHEK	skin
35	chr18:45348800-45362400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr18:45349400-45357000	Weak transcription	Placenta	Placenta
37	chr18:45349400-45361400	Weak transcription	HMEC	breast
38	chr18:45349600-45357200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr18:45349800-45365600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr18:45350000-45364000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr18:45350000-45365400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr18:45350200-45357200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr18:45350200-45363000	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr18:45350400-45362400	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr18:45350400-45364000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr18:45350800-45357000	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr18:45350800-45359800	Weak transcription	HUVEC	blood vessel
48	chr18:45350800-45365000	Weak transcription	Brain Hippocampus Middle	brain
49	chr18:45350800-45365600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr18:45350800-45367600	Weak transcription	K562	blood

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