Variant report

Variant	rs147316
Chromosome Location	chr14:77888664-77888665
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:77785522..77790160-chr14:77881086..77890187,11	MCF-7	breast:
2	chr14:77886973..77888948-chr14:77891766..77893431,2	K562	blood:
3	chr14:77886107..77889057-chr14:77889383..77893266,3	K562	blood:

Variant related genes	Relation type
ENSG00000165555	Chromatin interaction
ENSG00000009830	Chromatin interaction
ENSG00000100577	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	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10431633	0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10431634	0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10431726	0.83[AMR][1000 genomes]
rs1061629	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1061638	0.85[ASN][1000 genomes]
rs11159258	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11159259	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11159261	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11159262	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11159263	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11159264	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11622359	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11622832	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11623826	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11624068	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11624200	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11624990	0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11625129	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11625365	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11627016	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11627385	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11844594	0.85[EUR][1000 genomes]
rs12101153	0.84[EUR][1000 genomes]
rs12432247	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12433766	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12435136	0.84[EUR][1000 genomes]
rs12436593	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12590773	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12878121	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12879316	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12885869	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12886224	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12889722	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs176766	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs176767	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs176768	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs176772	0.91[EUR][1000 genomes]
rs176773	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs176778	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs176781	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17824034	0.91[EUR][1000 genomes]
rs17824316	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2091916	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2193595	0.85[EUR][1000 genomes]
rs2242619	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2364156	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35881785	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4223	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4369582	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4575469	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4899654	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4899655	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4903576	0.85[EUR][1000 genomes]
rs4903577	0.85[EUR][1000 genomes]
rs4903579	0.84[EUR][1000 genomes]
rs4903580	0.84[EUR][1000 genomes]
rs4903583	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4903584	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4903586	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6574372	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66466131	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67344054	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7142380	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7146595	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7146784	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7150718	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7250	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs760257	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8005759	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8006688	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8016070	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8016576	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8018513	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8018711	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8018808	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs963283	0.93[AMR][1000 genomes];0.99[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	nsv1362	chr14:77853202-77898605	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs147316	TMED8	cis	lung	GTEx

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77880400-77894400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:77883800-77893200	Weak transcription	K562	blood
3	chr14:77884800-77891000	Weak transcription	HMEC	breast
4	chr14:77886200-77889400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr14:77886200-77890400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr14:77886200-77891000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr14:77886400-77889000	Weak transcription	Osteobl	bone
8	chr14:77886400-77890000	Weak transcription	Thymus	Thymus
9	chr14:77886400-77890400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:77886400-77890400	Weak transcription	Gastric	stomach
11	chr14:77886400-77891000	Weak transcription	HUVEC	blood vessel
12	chr14:77886400-77891200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr14:77886600-77888800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr14:77886600-77889000	Weak transcription	Spleen	Spleen
15	chr14:77886600-77889200	Weak transcription	Brain Anterior Caudate	brain
16	chr14:77886600-77889200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr14:77886600-77889200	Weak transcription	Small Intestine	intestine
18	chr14:77886600-77889200	Weak transcription	HepG2	liver
19	chr14:77886600-77889600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr14:77886600-77890400	Weak transcription	Colon Smooth Muscle	Colon
21	chr14:77886600-77890800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr14:77886600-77892800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr14:77886600-77895200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr14:77886600-77896200	Strong transcription	A549	lung
25	chr14:77886800-77888800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:77886800-77888800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr14:77886800-77888800	Weak transcription	Dnd41	blood
28	chr14:77886800-77889200	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr14:77886800-77889200	Weak transcription	Primary B cells from peripheral blood	blood
30	chr14:77886800-77890200	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr14:77886800-77890400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr14:77886800-77890800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr14:77886800-77891000	Weak transcription	Brain Substantia Nigra	brain
34	chr14:77886800-77893400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr14:77887000-77889600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr14:77887000-77892800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr14:77887000-77896000	Strong transcription	Brain Germinal Matrix	brain
38	chr14:77887000-77919800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr14:77887000-77920400	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr14:77887200-77889000	Weak transcription	NH-A	brain
41	chr14:77887200-77889600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr14:77887200-77890200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr14:77887200-77891000	Weak transcription	Fetal Brain Male	brain
44	chr14:77887200-77892800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr14:77887200-77896600	Strong transcription	Brain Inferior Temporal Lobe	brain
46	chr14:77887200-77904200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr14:77887200-77910800	Strong transcription	Primary B cells from cord blood	blood
48	chr14:77887200-77920200	Strong transcription	Placenta	Placenta
49	chr14:77887200-77920600	Strong transcription	Primary T cells from cord blood	blood
50	chr14:77887400-77888800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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