Variant report

Variant	rs58318943
Chromosome Location	chr13:48509392-48509393
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:48508669..48510249-chr13:48511199..48513558,2	K562	blood:

Variant related genes	Relation type
ENSG00000136143	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12427929	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4477588	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4942719	0.96[ASN][1000 genomes]
rs61021157	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9562783	0.93[EUR][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

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48492200-48510800	Weak transcription	Left Ventricle	heart
2	chr13:48501000-48531200	Weak transcription	Spleen	Spleen
3	chr13:48502000-48530800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr13:48502600-48513600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr13:48503600-48512400	Weak transcription	Aorta	Aorta
6	chr13:48503800-48513200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr13:48503800-48516800	Weak transcription	NHDF-Ad	bronchial
8	chr13:48504000-48513400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr13:48506000-48531400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr13:48506400-48509400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr13:48506800-48509400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr13:48506800-48509600	Enhancers	HSMM	muscle
13	chr13:48506800-48522600	Weak transcription	Fetal Brain Male	brain
14	chr13:48507200-48509600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr13:48507200-48510800	Weak transcription	Primary T cells from cord blood	blood
16	chr13:48507200-48524000	Weak transcription	Lung	lung
17	chr13:48507200-48548800	Weak transcription	Stomach Mucosa	stomach
18	chr13:48507400-48512200	Weak transcription	Adipose Nuclei	Adipose
19	chr13:48507600-48511400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr13:48507600-48511600	Weak transcription	A549	lung
21	chr13:48507600-48513400	Weak transcription	Fetal Lung	lung
22	chr13:48507800-48511800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr13:48507800-48513600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr13:48507800-48513600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr13:48507800-48515200	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr13:48507800-48515200	Weak transcription	Osteobl	bone
27	chr13:48507800-48530600	Weak transcription	Brain Angular Gyrus	brain
28	chr13:48508000-48511400	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr13:48508000-48514000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr13:48508000-48514200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr13:48508000-48514200	Weak transcription	Fetal Stomach	stomach
32	chr13:48508000-48515200	Weak transcription	Primary B cells from peripheral blood	blood
33	chr13:48508000-48515200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr13:48508000-48515400	Weak transcription	Fetal Kidney	kidney
35	chr13:48508000-48516200	Weak transcription	Brain Substantia Nigra	brain
36	chr13:48508000-48522400	Weak transcription	GM12878-XiMat	blood
37	chr13:48508000-48531400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr13:48508200-48511000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr13:48508200-48511200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr13:48508200-48512400	Weak transcription	Fetal Muscle Leg	muscle
41	chr13:48508200-48512400	Weak transcription	Thymus	Thymus
42	chr13:48508200-48515400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr13:48508200-48515800	Weak transcription	Psoas Muscle	Psoas
44	chr13:48508200-48520000	Weak transcription	HepG2	liver
45	chr13:48508200-48529600	Weak transcription	Brain Cingulate Gyrus	brain
46	chr13:48508400-48511400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr13:48508400-48511400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr13:48508400-48511400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr13:48508400-48512400	Weak transcription	Pancreas	Pancrea
50	chr13:48508400-48513200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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