Variant report

Variant	rs890527
Chromosome Location	chr3:140774853-140774854
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:140774491..140777455-chr3:140795854..140797381,2	K562	blood:
2	chr3:140769622..140773131-chr3:140773940..140776930,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175093	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11713925	1.00[MEX][hapmap];0.85[MKK][hapmap]
rs6439975	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[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	nsv432488	chr3:140752302-140790302	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv591889	chr3:140769896-140778138	Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs890527	IRF9	trans	brain	seeQTL
rs890527	MX1	trans	brain	seeQTL
rs890527	IFIT3	trans	brain	seeQTL
rs890527	HLA-B	trans	brain	seeQTL
rs890527	IFI44	trans	brain	seeQTL
rs890527	ISG15	trans	brain	seeQTL
rs890527	IFI6	trans	brain	seeQTL
rs890527	STAT1	trans	brain	seeQTL
rs890527	IFITM1	trans	brain	seeQTL
rs890527	IFI44L	trans	brain	seeQTL
rs890527	TNFRSF6B	trans	brain	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140772000-140776200	Enhancers	Pancreas	Pancrea
2	chr3:140772000-140779000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:140772000-140782600	Weak transcription	Psoas Muscle	Psoas
4	chr3:140772200-140775000	Weak transcription	Right Atrium	heart
5	chr3:140772200-140775400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr3:140772200-140775800	Weak transcription	Fetal Brain Female	brain
7	chr3:140772200-140777400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr3:140772200-140777600	Enhancers	Fetal Heart	heart
9	chr3:140772200-140779000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr3:140773000-140775000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr3:140773800-140776600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr3:140774000-140775600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr3:140774000-140776800	Enhancers	Fetal Muscle Leg	muscle
14	chr3:140774000-140777600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:140774000-140777600	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr3:140774000-140777600	Enhancers	Brain Germinal Matrix	brain
17	chr3:140774400-140775600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:140774400-140777000	Enhancers	Left Ventricle	heart
19	chr3:140774400-140777200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr3:140774600-140775800	Strong transcription	Dnd41	blood
21	chr3:140774600-140776200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr3:140774600-140776200	Enhancers	Placenta	Placenta
23	chr3:140774600-140777400	Enhancers	Fetal Kidney	kidney
24	chr3:140774600-140777800	Enhancers	Right Ventricle	heart
25	chr3:140774800-140775000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr3:140774800-140775000	Enhancers	Fetal Muscle Trunk	muscle
27	chr3:140774800-140775200	Enhancers	Fetal Lung	lung
28	chr3:140774800-140775800	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr3:140774800-140776400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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