Variant report

Variant	rs45527334
Chromosome Location	chr14:77844265-77844266
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	SIN3AK20	chr14:77843107-77844266	MCF-7	breast:	n/a	n/a
2	E2F6	chr14:77843132-77844277	A549	lung:	n/a	n/a
3	ELF1	chr14:77842815-77844404	MCF-7	breast:	n/a	chr14:77843232-77843244
4	GABPA	chr14:77843145-77844422	MCF-7	breast:	n/a	n/a
5	MXI1	chr14:77841038-77844400	SK-N-SH	brain:	n/a	n/a
6	SIN3AK20	chr14:77842665-77844390	MCF-7	breast:	n/a	n/a
7	CTCF	chr14:77844240-77844390	BJ	skin:	n/a	n/a
8	REST	chr14:77842330-77844283	H1-neurons	neurons:	n/a	chr14:77842942-77842955 chr14:77842738-77842751 chr14:77843258-77843268 chr14:77843467-77843480 chr14:77843210-77843230 chr14:77843210-77843230 chr14:77843534-77843547 chr14:77843534-77843547

No.	Distal block	Cell Line	Cell type
1	chr14:77786039..77790135-chr14:77842733..77846742,6	MCF-7	breast:
2	chr14:77842121..77845840-chr14:77923685..77925710,4	K562	blood:
3	chr14:77785710..77794377-chr14:77836948..77846491,26	MCF-7	breast:
4	chr14:77814415..77818794-chr14:77841444..77844447,3	MCF-7	breast:
5	chr14:77841945..77846770-chr14:77921022..77925977,11	MCF-7	breast:
6	chr14:77785581..77788460-chr14:77843501..77845400,3	K562	blood:
7	chr14:77766406..77773210-chr14:77841892..77846481,6	MCF-7	breast:

Variant related genes	Relation type
TMED8	TF binding region
ENSG00000266628	Chromatin interaction
ENSG00000151445	Chromatin interaction
ENSG00000100591	Chromatin interaction
ENSG00000009830	Chromatin interaction
ENSG00000100577	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10129477	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10130481	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10133824	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10141114	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10146635	0.80[EUR][1000 genomes]
rs10151003	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11845345	0.84[AFR][1000 genomes]
rs12881960	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12890411	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12891177	0.93[AFR][1000 genomes]
rs12891485	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs176771	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17750993	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17824094	0.93[AFR][1000 genomes]
rs1967638	0.87[AFR][1000 genomes]
rs33915834	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34835605	0.93[AFR][1000 genomes]
rs35311406	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45540040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71413461	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7145606	0.80[EUR][1000 genomes]
rs7146543	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs760252	0.87[AFR][1000 genomes]
rs8003282	0.80[EUR][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
rs45527334	TMED8	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77842600-77844400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr14:77842600-77844400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr14:77843200-77844400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr14:77843600-77844400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr14:77843600-77844400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr14:77843800-77844400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr14:77843800-77844400	Flanking Active TSS	Fetal Muscle Leg	muscle
8	chr14:77843800-77844400	Flanking Active TSS	A549	lung
9	chr14:77843800-77844400	Flanking Active TSS	Dnd41	blood
10	chr14:77843800-77845600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr14:77844000-77844400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:77844000-77844400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr14:77844000-77844400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr14:77844000-77844400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
15	chr14:77844000-77844400	Enhancers	Lung	lung
16	chr14:77844200-77844400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:77844200-77844400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
18	chr14:77844200-77844400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr14:77844200-77844400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr14:77844200-77844400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr14:77844200-77844400	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr14:77844200-77844400	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr14:77844200-77844400	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr14:77844200-77844400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr14:77844200-77844400	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr14:77844200-77844400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr14:77844200-77844400	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr14:77844200-77844400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr14:77844200-77844400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr14:77844200-77844400	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr14:77844200-77844400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr14:77844200-77844400	Enhancers	Brain Angular Gyrus	brain
33	chr14:77844200-77844400	Enhancers	Brain Anterior Caudate	brain
34	chr14:77844200-77844400	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr14:77844200-77844400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr14:77844200-77844400	Enhancers	Colonic Mucosa	Colon
37	chr14:77844200-77844400	Enhancers	Fetal Brain Male	brain
38	chr14:77844200-77844400	Active TSS	Fetal Heart	heart
39	chr14:77844200-77844400	Enhancers	Fetal Intestine Large	intestine
40	chr14:77844200-77844400	Enhancers	Fetal Lung	lung
41	chr14:77844200-77844400	Enhancers	Fetal Thymus	thymus
42	chr14:77844200-77844400	Enhancers	Left Ventricle	heart
43	chr14:77844200-77844400	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr14:77844200-77844400	Enhancers	Rectal Smooth Muscle	rectum
45	chr14:77844200-77844400	Enhancers	Right Ventricle	heart
46	chr14:77844200-77844400	Enhancers	GM12878-XiMat	blood
47	chr14:77844200-77844400	Active TSS	Hela-S3	cervix
48	chr14:77844200-77844400	Enhancers	HMEC	breast
49	chr14:77844200-77844400	Active TSS	HSMM	muscle
50	chr14:77844200-77844400	Active TSS	HSMMtube	muscle

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