Variant report

Variant	rs4942719
Chromosome Location	chr13:48511200-48511201
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	SETDB1	chr13:48511152-48511647	U2OS	brain:	n/a	n/a
2	POLR2A	chr13:48511135-48511368	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
LINC00562	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12427929	0.94[ASN][1000 genomes]
rs2094196	0.82[EUR][1000 genomes]
rs4477588	0.80[ASN][1000 genomes]
rs58318943	0.96[ASN][1000 genomes]
rs61021157	0.96[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	nsv933980	chr13:48431000-48557419	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4942719	MED4	Cis_1M	lymphoblastoid	RTeQTL
rs4942719	SUCLA2	cis	Muscle Skeletal	GTEx

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48501000-48531200	Weak transcription	Spleen	Spleen
2	chr13:48502000-48530800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr13:48502600-48513600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr13:48503600-48512400	Weak transcription	Aorta	Aorta
5	chr13:48503800-48513200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr13:48503800-48516800	Weak transcription	NHDF-Ad	bronchial
7	chr13:48504000-48513400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr13:48506000-48531400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr13:48506800-48522600	Weak transcription	Fetal Brain Male	brain
10	chr13:48507200-48524000	Weak transcription	Lung	lung
11	chr13:48507200-48548800	Weak transcription	Stomach Mucosa	stomach
12	chr13:48507400-48512200	Weak transcription	Adipose Nuclei	Adipose
13	chr13:48507600-48511400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr13:48507600-48511600	Weak transcription	A549	lung
15	chr13:48507600-48513400	Weak transcription	Fetal Lung	lung
16	chr13:48507800-48511800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr13:48507800-48513600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr13:48507800-48513600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr13:48507800-48515200	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr13:48507800-48515200	Weak transcription	Osteobl	bone
21	chr13:48507800-48530600	Weak transcription	Brain Angular Gyrus	brain
22	chr13:48508000-48511400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr13:48508000-48514000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr13:48508000-48514200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr13:48508000-48514200	Weak transcription	Fetal Stomach	stomach
26	chr13:48508000-48515200	Weak transcription	Primary B cells from peripheral blood	blood
27	chr13:48508000-48515200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr13:48508000-48515400	Weak transcription	Fetal Kidney	kidney
29	chr13:48508000-48516200	Weak transcription	Brain Substantia Nigra	brain
30	chr13:48508000-48522400	Weak transcription	GM12878-XiMat	blood
31	chr13:48508000-48531400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr13:48508200-48511200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr13:48508200-48512400	Weak transcription	Fetal Muscle Leg	muscle
34	chr13:48508200-48512400	Weak transcription	Thymus	Thymus
35	chr13:48508200-48515400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr13:48508200-48515800	Weak transcription	Psoas Muscle	Psoas
37	chr13:48508200-48520000	Weak transcription	HepG2	liver
38	chr13:48508200-48529600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr13:48508400-48511400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr13:48508400-48511400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr13:48508400-48511400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr13:48508400-48512400	Weak transcription	Pancreas	Pancrea
43	chr13:48508400-48513200	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr13:48508400-48513600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr13:48508400-48513600	Weak transcription	HMEC	breast
46	chr13:48508400-48515200	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr13:48508600-48512200	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr13:48508600-48512400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr13:48508600-48513800	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr13:48508600-48515400	Weak transcription	Brain Hippocampus Middle	brain

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