Variant report

Variant	rs8018711
Chromosome Location	chr14:77921749-77921750
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	MYC	chr14:77921721-77921774	MCF-7	breast:	n/a	n/a
2	POLR2A	chr14:77921695-77921893	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:77841945..77846770-chr14:77921022..77925977,11	MCF-7	breast:
2	chr14:77916294..77921948-chr14:77922001..77926650,9	K562	blood:
3	chr14:77838311..77841794-chr14:77920547..77923802,4	MCF-7	breast:

Variant related genes	Relation type
VIPAS39	TF binding region
AHSA1	TF binding region
ENSG00000100580	Chromatin interaction
ENSG00000100591	Chromatin interaction
ENSG00000151445	Chromatin interaction
ENSG00000100583	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10133896	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10431633	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10431634	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10431726	0.83[AMR][1000 genomes]
rs1061629	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1061638	0.90[ASN][1000 genomes]
rs11159258	0.87[EUR][1000 genomes]
rs11159259	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11159261	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11159262	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11159263	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11159264	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11622359	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11622832	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11623826	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11624068	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11624200	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11624990	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11625129	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11625365	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11627016	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11627385	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11844594	0.81[EUR][1000 genomes]
rs12101153	0.80[EUR][1000 genomes]
rs12432247	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12433766	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12435136	0.80[EUR][1000 genomes]
rs12436593	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12590773	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12878121	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12879316	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12885869	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12886224	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12889722	0.81[EUR][1000 genomes]
rs147316	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs176766	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs176767	0.81[EUR][1000 genomes]
rs176768	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs176772	0.87[EUR][1000 genomes]
rs176773	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs176778	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs176781	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17824034	0.87[EUR][1000 genomes]
rs17824316	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2091916	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2193595	0.81[EUR][1000 genomes]
rs2242619	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2364156	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35881785	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4223	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4369582	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4575469	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4899654	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4899655	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4903576	0.81[EUR][1000 genomes]
rs4903577	0.81[EUR][1000 genomes]
rs4903579	0.80[EUR][1000 genomes]
rs4903580	0.80[EUR][1000 genomes]
rs4903583	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4903584	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4903586	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6574372	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66466131	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67344054	0.80[EUR][1000 genomes]
rs7142380	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7146595	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7146784	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7150718	0.81[EUR][1000 genomes]
rs7250	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs760257	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8005759	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8006688	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8016070	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8016576	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8018513	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8018808	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs963283	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041985	chr14:77877421-77936969	Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv832835	chr14:77906706-78095207	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8018711	TMED8	cis	lung	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77891600-77923200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:77894200-77923000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:77896200-77923200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:77901800-77923000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr14:77909800-77921800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr14:77909800-77921800	Weak transcription	Stomach Mucosa	stomach
7	chr14:77909800-77923200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:77915600-77922800	Weak transcription	Small Intestine	intestine
9	chr14:77915800-77923000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr14:77916000-77922600	Weak transcription	Hela-S3	cervix
11	chr14:77916000-77923200	Weak transcription	Aorta	Aorta
12	chr14:77916200-77923200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr14:77916200-77923400	Weak transcription	Pancreas	Pancrea
14	chr14:77916400-77923200	Weak transcription	Esophagus	oesophagus
15	chr14:77916600-77922800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr14:77916600-77922800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr14:77916800-77922600	Weak transcription	Fetal Heart	heart
18	chr14:77916800-77922800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr14:77916800-77922800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr14:77917000-77922800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr14:77917400-77922800	Weak transcription	Fetal Brain Male	brain
22	chr14:77917600-77922800	Weak transcription	Brain Anterior Caudate	brain
23	chr14:77917800-77922800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr14:77917800-77923000	Weak transcription	Psoas Muscle	Psoas
25	chr14:77918000-77922200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr14:77918200-77922800	Weak transcription	HMEC	breast
27	chr14:77918200-77923200	Weak transcription	Gastric	stomach
28	chr14:77918200-77923400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr14:77918400-77922000	Weak transcription	Brain Substantia Nigra	brain
30	chr14:77918400-77922200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr14:77918400-77922800	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr14:77918400-77922800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr14:77918400-77922800	Weak transcription	NHDF-Ad	bronchial
34	chr14:77918400-77923200	Weak transcription	Lung	lung
35	chr14:77919400-77922800	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr14:77919600-77922800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr14:77919600-77923400	Weak transcription	Spleen	Spleen
38	chr14:77919800-77921800	Weak transcription	GM12878-XiMat	blood
39	chr14:77919800-77921800	Weak transcription	HepG2	liver
40	chr14:77919800-77922000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr14:77919800-77922000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr14:77919800-77922200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr14:77919800-77922400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr14:77919800-77922600	Weak transcription	Brain Hippocampus Middle	brain
45	chr14:77919800-77922800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr14:77919800-77922800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr14:77919800-77922800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr14:77919800-77922800	Weak transcription	Adipose Nuclei	Adipose
49	chr14:77919800-77922800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr14:77919800-77922800	Weak transcription	Duodenum Mucosa	Duodenum

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