Variant report

Variant	rs7989745
Chromosome Location	chr13:37608496-37608497
allele	C/T
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	MAFK	chr13:37608473-37608543	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:37573253..37575127-chr13:37606334..37610138,3	MCF-7	breast:

Variant related genes	Relation type
SUPT20H	TF binding region
ENSG00000120697	Chromatin interaction
ENSG00000120699	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1127446	0.94[ASN][1000 genomes]
rs2078022	0.85[ASN][1000 genomes]
rs2243710	0.80[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3818380	0.82[ASN][1000 genomes]
rs4943438	0.86[ASN][1000 genomes]
rs4943439	0.86[ASN][1000 genomes]
rs4943440	0.86[ASN][1000 genomes]
rs7336575	0.87[ASN][1000 genomes]
rs8000946	0.86[ASN][1000 genomes]
rs9469	0.94[ASN][1000 genomes]
rs9532003	0.85[ASN][1000 genomes]
rs9547708	0.87[ASN][1000 genomes]
rs9547709	0.85[ASN][1000 genomes]
rs9547711	0.87[ASN][1000 genomes]
rs9547713	0.87[ASN][1000 genomes]
rs9566172	0.81[ASN][1000 genomes]
rs9576146	0.85[ASN][1000 genomes]
rs9576147	0.86[ASN][1000 genomes]
rs9576149	0.85[ASN][1000 genomes]
rs9576150	0.86[ASN][1000 genomes]
rs9576151	0.88[ASN][1000 genomes]
rs9576156	0.93[ASN][1000 genomes]
rs9603126	0.90[ASN][1000 genomes]

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	nsv948975	chr13:37281203-38280430	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7989745	ALG5	Cis_1M	lymphoblastoid	RTeQTL
rs7989745	FAM48A	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:37575400-37631200	Weak transcription	Stomach Mucosa	stomach
2	chr13:37576200-37623800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr13:37576400-37608600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:37576400-37618800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr13:37576400-37623800	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr13:37576600-37623000	Strong transcription	Liver	Liver
7	chr13:37576600-37625800	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr13:37576800-37609000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr13:37576800-37621200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr13:37576800-37623200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr13:37577000-37608600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr13:37577000-37623000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr13:37577000-37623400	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr13:37577000-37624400	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr13:37577200-37623200	Strong transcription	Primary B cells from peripheral blood	blood
16	chr13:37577200-37625200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr13:37577200-37625800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr13:37577200-37625800	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr13:37577600-37623600	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr13:37578200-37615200	Weak transcription	K562	blood
21	chr13:37580000-37608600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr13:37581800-37622800	Strong transcription	Dnd41	blood
23	chr13:37582800-37609600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr13:37583000-37622800	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr13:37583000-37623400	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr13:37583200-37622600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr13:37585400-37616000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr13:37586800-37623400	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr13:37587000-37622200	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr13:37587800-37618000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr13:37587800-37622600	Strong transcription	Duodenum Mucosa	Duodenum
32	chr13:37588000-37611800	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr13:37588400-37622400	Strong transcription	Adipose Nuclei	Adipose
34	chr13:37588600-37619600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr13:37588800-37614200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr13:37589200-37625800	Strong transcription	Fetal Thymus	thymus
37	chr13:37589400-37622600	Strong transcription	Placenta	Placenta
38	chr13:37589600-37623800	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr13:37592200-37622600	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr13:37592400-37618000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr13:37592400-37619400	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr13:37593400-37611200	Weak transcription	Esophagus	oesophagus
43	chr13:37594600-37622400	Strong transcription	Primary B cells from cord blood	blood
44	chr13:37595000-37610200	Strong transcription	GM12878-XiMat	blood
45	chr13:37595800-37608600	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr13:37596800-37615800	Weak transcription	Right Ventricle	heart
47	chr13:37597600-37611800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr13:37598200-37613200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr13:37599200-37608600	Strong transcription	Primary hematopoietic stem cells	blood
50	chr13:37599600-37609600	Weak transcription	Lung	lung

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