Variant report

Variant	rs8006688
Chromosome Location	chr14:77926649-77926650
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:77921860..77928400-chr14:77931824..77937732,8	MCF-7	breast:
2	chr14:77925306..77928562-chr14:78081993..78085089,3	MCF-7	breast:
3	chr14:77787369..77789536-chr14:77923983..77928279,4	K562	blood:
4	chr14:77924775..77928699-chr14:77931957..77935059,4	K562	blood:
5	chr14:77599632..77602210-chr14:77926628..77928596,2	MCF-7	breast:
6	chr14:77785598..77789538-chr14:77924091..77927637,5	MCF-7	breast:
7	chr14:77924491..77927029-chr14:77963244..77966693,3	MCF-7	breast:
8	chr14:77789665..77794031-chr14:77921841..77927059,7	MCF-7	breast:
9	chr14:77916294..77921948-chr14:77922001..77926650,9	K562	blood:
10	chr14:77771713..77774149-chr14:77924660..77927150,3	MCF-7	breast:
11	chr14:77926565..77928660-chr9:102583665..102585481,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000100577	Chromatin interaction
ENSG00000119508	Chromatin interaction
ENSG00000100591	Chromatin interaction
ENSG00000151445	Chromatin interaction
ENSG00000100596	Chromatin interaction
ENSG00000212371	Chromatin interaction
ENSG00000009830	Chromatin interaction
ENSG00000100593	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];0.82[ASN][1000 genomes]
rs10431633	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10431634	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10431726	0.87[AMR][1000 genomes]
rs1061629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1061638	0.88[ASN][1000 genomes]
rs11159258	0.87[EUR][1000 genomes]
rs11159259	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11159261	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11159262	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11159263	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11159264	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11622359	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11622832	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11623826	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11624068	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11624200	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11624990	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11625129	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11625365	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11627016	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11627385	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11844594	0.81[EUR][1000 genomes]
rs12101153	0.80[EUR][1000 genomes]
rs12432247	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12433766	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12435136	0.80[EUR][1000 genomes]
rs12436593	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12590773	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12878121	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12879316	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12885869	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12886224	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12889722	0.81[EUR][1000 genomes]
rs147316	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs176766	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs176767	0.81[EUR][1000 genomes]
rs176768	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs176772	0.87[EUR][1000 genomes]
rs176773	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs176778	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs176781	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17824034	0.87[EUR][1000 genomes]
rs17824316	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2091916	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2193595	0.81[EUR][1000 genomes]
rs2242619	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2364156	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35881785	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4223	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4369582	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4575469	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4899654	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4899655	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[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	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4903584	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4903586	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6574372	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66466131	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67344054	0.80[EUR][1000 genomes]
rs7142380	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7146595	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7146784	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7150718	0.81[EUR][1000 genomes]
rs7250	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs760257	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8005759	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8016070	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8016576	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8018513	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8018711	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8018808	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs963283	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[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
rs8006688	TMED8	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77924600-77926800	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr14:77925600-77926800	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr14:77925600-77927000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
4	chr14:77925600-77936600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr14:77925800-77926800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:77925800-77926800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr14:77925800-77928400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr14:77925800-77936400	Strong transcription	Fetal Muscle Trunk	muscle
9	chr14:77926000-77926800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr14:77926000-77926800	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr14:77926000-77926800	Strong transcription	Aorta	Aorta
12	chr14:77926000-77926800	Genic enhancers	Left Ventricle	heart
13	chr14:77926000-77927000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
14	chr14:77926000-77929600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:77926000-77936200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr14:77926000-77936200	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr14:77926000-77936400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:77926000-77936800	Strong transcription	H9 Cell Line	embryonic stem cell
19	chr14:77926000-77936800	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr14:77926000-77939000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr14:77926200-77926800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr14:77926200-77926800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr14:77926200-77926800	Genic enhancers	Colon Smooth Muscle	Colon
24	chr14:77926200-77926800	Genic enhancers	Stomach Smooth Muscle	stomach
25	chr14:77926200-77926800	Strong transcription	NHLF	lung
26	chr14:77926200-77927000	Genic enhancers	Brain Cingulate Gyrus	brain
27	chr14:77926200-77927600	Weak transcription	Esophagus	oesophagus
28	chr14:77926200-77928400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr14:77926200-77928400	Weak transcription	Small Intestine	intestine
30	chr14:77926200-77928400	Weak transcription	Stomach Mucosa	stomach
31	chr14:77926200-77932000	Strong transcription	Colonic Mucosa	Colon
32	chr14:77926200-77932200	Strong transcription	Rectal Smooth Muscle	rectum
33	chr14:77926200-77932800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
34	chr14:77926200-77933400	Strong transcription	Fetal Brain Male	brain
35	chr14:77926200-77933800	Strong transcription	Gastric	stomach
36	chr14:77926200-77935400	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr14:77926200-77935600	Strong transcription	HSMM	muscle
38	chr14:77926200-77935800	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr14:77926200-77936000	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr14:77926200-77936000	Strong transcription	NHDF-Ad	bronchial
41	chr14:77926200-77936200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr14:77926200-77936200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr14:77926200-77936200	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr14:77926200-77936200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr14:77926200-77936200	Strong transcription	Fetal Intestine Large	intestine
46	chr14:77926200-77936200	Strong transcription	Placenta	Placenta
47	chr14:77926200-77936200	Strong transcription	Fetal Thymus	thymus
48	chr14:77926200-77936200	Strong transcription	Lung	lung
49	chr14:77926200-77936200	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr14:77926200-77936400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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