Variant report

Variant	rs7727310
Chromosome Location	chr5:79387580-79387581
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:79387254..79388326-chr5:79602600..79603634,8	K562	blood:
2	chr5:79387556..79388151-chr5:79950255..79950983,2	K562	blood:
3	chr5:79387296..79388184-chr5:79570910..79571894,4	K562	blood:

Variant related genes	Relation type
ENSG00000228716	Chromatin interaction
ENSG00000113318	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2247450	0.91[JPT][hapmap]
rs2434279	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2434287	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2438642	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2438644	0.82[ASN][1000 genomes]
rs2913544	0.86[JPT][hapmap]
rs384941	0.86[JPT][hapmap]
rs394947	0.91[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432748	chr5:79300434-79577760	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7727310	MTX3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79366000-79388000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:79366200-79392400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:79379400-79388200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr5:79379400-79393200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr5:79379400-79400600	Weak transcription	Left Ventricle	heart
6	chr5:79379600-79387600	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr5:79379600-79387600	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr5:79379600-79387600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr5:79379600-79388000	Weak transcription	Primary T cells from cord blood	blood
10	chr5:79382000-79393200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr5:79382200-79387800	Weak transcription	Brain Anterior Caudate	brain
12	chr5:79385000-79388400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr5:79385000-79389400	Enhancers	HepG2	liver
14	chr5:79385200-79389400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr5:79385400-79389000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:79385400-79389200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:79385800-79393000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:79386800-79388600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:79387200-79389200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr5:79387400-79387600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:79387400-79387800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:79387400-79387800	Enhancers	Fetal Kidney	kidney
23	chr5:79387400-79388000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:79387400-79388000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr5:79387400-79388200	Enhancers	Colon Smooth Muscle	Colon
26	chr5:79387400-79388400	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr5:79387400-79389400	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr5:79387400-79389400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr5:79387400-79389600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr5:79387400-79389800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr5:79387400-79389800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr5:79387400-79389800	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr5:79387400-79397000	Enhancers	Fetal Thymus	thymus

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