Variant report

Variant	rs7155184
Chromosome Location	chr14:77815584-77815585
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:77813905..77816792-chr14:77833913..77836690,2	K562	blood:
2	chr14:77812538..77814408-chr14:77814808..77816897,2	MCF-7	breast:
3	chr14:77815185..77819535-chr14:77922944..77925749,3	MCF-7	breast:
4	chr14:77808493..77810636-chr14:77812936..77815914,3	K562	blood:
5	chr14:77814415..77818794-chr14:77841444..77844447,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100591	Chromatin interaction
ENSG00000151445	Chromatin interaction
ENSG00000100580	Chromatin interaction
ENSG00000100583	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10132619	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1017186	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1046428	0.86[ASN][1000 genomes]
rs11845842	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11850308	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11850771	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12881799	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12886056	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12887558	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12893462	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12894718	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1468951	0.86[ASN][1000 genomes]
rs17105724	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2111700	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2160838	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2160839	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2160840	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2364155	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3759731	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56162150	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67845205	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73311369	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73311375	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8005730	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9671248	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[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	nsv431017	chr14:76938089-77854647	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv902107	chr14:77790416-77871777	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7155184	TMED8	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77789200-77818200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr14:77793200-77824600	Weak transcription	Psoas Muscle	Psoas
3	chr14:77803800-77835400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr14:77805200-77818600	Weak transcription	Small Intestine	intestine
5	chr14:77806200-77819400	Weak transcription	A549	lung
6	chr14:77806400-77838600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr14:77806600-77822200	Weak transcription	NHDF-Ad	bronchial
8	chr14:77807800-77817600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr14:77807800-77819600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr14:77807800-77822000	Weak transcription	Osteobl	bone
11	chr14:77808000-77818800	Weak transcription	Placenta	Placenta
12	chr14:77808400-77818600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr14:77808400-77830600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:77808600-77819000	Weak transcription	NHEK	skin
15	chr14:77808800-77816000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr14:77809600-77817600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr14:77809600-77818000	Weak transcription	HMEC	breast
18	chr14:77809600-77825000	Weak transcription	Gastric	stomach
19	chr14:77809600-77842000	Weak transcription	HUVEC	blood vessel
20	chr14:77809800-77815600	Weak transcription	Brain Hippocampus Middle	brain
21	chr14:77809800-77815800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr14:77809800-77815800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr14:77809800-77816000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr14:77809800-77816000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr14:77809800-77816400	Weak transcription	Colon Smooth Muscle	Colon
26	chr14:77809800-77818600	Weak transcription	NH-A	brain
27	chr14:77809800-77818800	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr14:77809800-77820200	Weak transcription	Brain Substantia Nigra	brain
29	chr14:77809800-77821200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr14:77810000-77815800	Weak transcription	Adipose Nuclei	Adipose
31	chr14:77810000-77815800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr14:77810000-77816000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr14:77810000-77816200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr14:77810000-77816200	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr14:77810000-77816400	Weak transcription	Fetal Lung	lung
36	chr14:77810000-77818200	Weak transcription	Fetal Heart	heart
37	chr14:77810000-77820200	Weak transcription	Hela-S3	cervix
38	chr14:77810000-77838800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr14:77810200-77816000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr14:77810200-77816400	Weak transcription	Brain Germinal Matrix	brain
41	chr14:77810200-77818400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr14:77810200-77819400	Weak transcription	Brain Anterior Caudate	brain
43	chr14:77810200-77820000	Weak transcription	Ovary	ovary
44	chr14:77810600-77815600	Weak transcription	Fetal Muscle Leg	muscle
45	chr14:77810600-77816200	Weak transcription	Duodenum Mucosa	Duodenum
46	chr14:77810600-77817400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr14:77810600-77822200	Weak transcription	K562	blood
48	chr14:77810600-77825400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr14:77810800-77816000	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr14:77810800-77817800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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