Variant report

Variant	rs8084915
Chromosome Location	chr18:45433164-45433165
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:45428185..45429886-chr18:45431869..45434765,2	K562	blood:
2	chr18:45431906..45433544-chr18:45439768..45441940,2	MCF-7	breast:

Extended variants
information (count: 83 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10432199	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10853560	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11082638	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11082639	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11874858	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12458238	0.83[EUR][1000 genomes]
rs12604337	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12605333	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12956483	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12968107	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12968493	0.83[EUR][1000 genomes]
rs12969725	0.82[EUR][1000 genomes]
rs13381619	0.98[ASN][1000 genomes]
rs1539872	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1573363	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1613672	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1631576	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17741998	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1787176	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1787193	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1787194	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1787195	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1787196	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1787197	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1787198	0.83[EUR][1000 genomes]
rs1792653	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1792655	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1792667	0.83[EUR][1000 genomes]
rs1792668	0.83[EUR][1000 genomes]
rs1792669	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1792670	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1792672	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1792674	0.81[EUR][1000 genomes]
rs1792675	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1792683	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1792687	0.82[EUR][1000 genomes]
rs2000708	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2000709	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2012555	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2096932	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2096933	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28548478	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35710478	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3813068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4939672	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4940102	0.81[EUR][1000 genomes]
rs4940109	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4940110	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4940120	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4940127	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61513611	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62086544	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6507790	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7228393	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7231538	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7232764	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7232893	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7233129	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7236177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7237544	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7243502	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs729112	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs747952	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs747953	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs765213	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8095519	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8097580	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8097912	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8097925	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8099127	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8099681	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs948600	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs948601	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs948603	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs948604	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9946556	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9947494	0.83[ASN][1000 genomes]
rs9950207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9955626	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9961652	0.82[AMR][1000 genomes]
rs9966637	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9966964	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8084915	SMAD2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45420800-45439600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr18:45421200-45436800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr18:45421800-45437800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr18:45423200-45438200	Weak transcription	Gastric	stomach
5	chr18:45423200-45451400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr18:45426200-45438200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr18:45427600-45434200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr18:45428600-45438000	Weak transcription	K562	blood
9	chr18:45429000-45433800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
10	chr18:45429400-45434000	ZNF genes & repeats	A549	lung
11	chr18:45429600-45437800	Weak transcription	Right Atrium	heart
12	chr18:45429800-45435000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr18:45429800-45435800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr18:45429800-45438200	Weak transcription	Psoas Muscle	Psoas
15	chr18:45430400-45433400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr18:45430600-45438200	Weak transcription	Esophagus	oesophagus
17	chr18:45430800-45435000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr18:45430800-45435200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr18:45430800-45438400	Weak transcription	Aorta	Aorta
20	chr18:45431000-45434600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr18:45431000-45437800	Weak transcription	Left Ventricle	heart
22	chr18:45431000-45438000	Weak transcription	Fetal Heart	heart
23	chr18:45431000-45438200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr18:45431000-45438200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr18:45431000-45438200	Weak transcription	Right Ventricle	heart
26	chr18:45431000-45438400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr18:45431000-45442800	Weak transcription	Lung	lung
28	chr18:45431200-45436000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr18:45431600-45435200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr18:45431600-45438000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr18:45431800-45435200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr18:45431800-45435200	ZNF genes & repeats	Dnd41	blood
33	chr18:45431800-45438200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr18:45432000-45433200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
35	chr18:45432000-45433200	ZNF genes & repeats	Fetal Intestine Small	intestine
36	chr18:45432000-45433400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
37	chr18:45432000-45433400	ZNF genes & repeats	Fetal Lung	lung
38	chr18:45432200-45433200	ZNF genes & repeats	Fetal Stomach	stomach
39	chr18:45432200-45433400	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
40	chr18:45432200-45433400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr18:45432200-45433400	ZNF genes & repeats	Fetal Thymus	thymus
42	chr18:45432200-45435600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr18:45432200-45435800	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr18:45432400-45433800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
45	chr18:45432400-45433800	Weak transcription	Thymus	Thymus
46	chr18:45432400-45434400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr18:45432400-45436000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr18:45432600-45433200	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
49	chr18:45432600-45433400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
50	chr18:45432600-45433400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum

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