Variant report

Variant	rs8043123
Chromosome Location	chr15:78973393-78973394
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:78912983..78915101-chr15:78972644..78975199,2	K562	blood:

Variant related genes	Relation type
ENSG00000080644	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11072787	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12595461	0.80[AMR][1000 genomes]
rs12899940	0.84[CEU][hapmap]
rs12907511	0.80[EUR][1000 genomes]
rs1809412	0.84[CEU][hapmap];0.80[GIH][hapmap]
rs28661610	0.81[EUR][1000 genomes]
rs4887074	0.89[CEU][hapmap]
rs4887078	0.84[CEU][hapmap]
rs57260218	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7178423	0.82[ASN][1000 genomes]
rs8032156	0.83[ASN][1000 genomes]
rs8032552	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs899997	0.84[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917303	chr15:78491050-79205255	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
2	nsv1045827	chr15:78907656-79004642	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv457208	chr15:78908032-79019610	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv570201	chr15:78908032-79019610	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv974713	chr15:78945824-78996783	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv457209	chr15:78949127-78986805	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv471256	chr15:78949127-78986805	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv570203	chr15:78949127-78986805	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8043123	TMED3	cis	parietal	SCAN
rs8043123	RP11-114H24.5	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78966200-78977000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr15:78969400-78978000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:78971200-78973600	Enhancers	GM12878-XiMat	blood
4	chr15:78971400-78975200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr15:78971800-78974600	Weak transcription	Spleen	Spleen
6	chr15:78971800-78975200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr15:78972000-78974400	Weak transcription	Esophagus	oesophagus
8	chr15:78972000-78975200	Enhancers	Fetal Brain Male	brain
9	chr15:78972000-78977400	Weak transcription	HMEC	breast
10	chr15:78972000-78980000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr15:78972400-78975200	Enhancers	Primary hematopoietic stem cells	blood
12	chr15:78972400-78975200	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr15:78972600-78973800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr15:78972600-78975400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr15:78972800-78974000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr15:78972800-78974400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr15:78972800-78975200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr15:78972800-78975400	Enhancers	Fetal Brain Female	brain
19	chr15:78972800-78975400	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr15:78972800-78975800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr15:78973000-78973800	Enhancers	Fetal Muscle Leg	muscle
22	chr15:78973000-78974200	Enhancers	H1 Cell Line	embryonic stem cell
23	chr15:78973000-78974800	Enhancers	H9 Cell Line	embryonic stem cell
24	chr15:78973000-78974800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr15:78973200-78973400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr15:78973200-78974200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr15:78973200-78974800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr15:78973200-78975000	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr15:78973200-78975400	Enhancers	Fetal Stomach	stomach

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