Variant report

Variant	rs9534960
Chromosome Location	chr13:48701600-48701601
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:48699791..48701877-chr13:48806466..48810071,5	MCF-7	breast:
2	chr13:48701521..48703483-chr13:48708256..48709963,2	K562	blood:
3	chr13:48700736..48702519-chr13:48877364..48879674,2	MCF-7	breast:
4	chr13:48700764..48701721-chr13:49342977..49343886,4	K562	blood:
5	chr13:48700823..48701797-chr13:48806881..48808213,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231473	Chromatin interaction
ENSG00000224510	Chromatin interaction
ENSG00000139687	Chromatin interaction
ENSG00000136156	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs56348834	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9526420	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs9534911	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs9534964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv832601	chr13:48569952-48735939	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48697800-48702200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr13:48699600-48702000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr13:48699600-48702200	Enhancers	Rectal Smooth Muscle	rectum
4	chr13:48699800-48701600	Enhancers	Brain Hippocampus Middle	brain
5	chr13:48699800-48701600	Enhancers	Fetal Lung	lung
6	chr13:48699800-48701800	Enhancers	Fetal Kidney	kidney
7	chr13:48700000-48702000	Enhancers	Liver	Liver
8	chr13:48700200-48701600	Weak transcription	Ovary	ovary
9	chr13:48700400-48701600	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr13:48700400-48702200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr13:48700400-48702200	Enhancers	Colon Smooth Muscle	Colon
12	chr13:48700400-48705600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr13:48700600-48701600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr13:48700600-48702000	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr13:48701000-48701600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr13:48701000-48701600	Enhancers	Osteobl	bone
17	chr13:48701000-48701800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr13:48701000-48701800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr13:48701000-48701800	Enhancers	Stomach Mucosa	stomach
20	chr13:48701000-48701800	Enhancers	HMEC	breast
21	chr13:48701000-48702000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr13:48701000-48702000	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr13:48701000-48702000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr13:48701000-48702000	Enhancers	Brain Substantia Nigra	brain
25	chr13:48701000-48702000	Enhancers	Fetal Muscle Leg	muscle
26	chr13:48701000-48702000	Enhancers	Fetal Stomach	stomach
27	chr13:48701000-48702000	Enhancers	Fetal Thymus	thymus
28	chr13:48701000-48702200	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr13:48701000-48702200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr13:48701000-48702200	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr13:48701000-48702200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr13:48701200-48701600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr13:48701200-48701600	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr13:48701200-48701600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr13:48701200-48701600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr13:48701200-48701600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr13:48701200-48701600	Flanking Active TSS	Brain Anterior Caudate	brain
38	chr13:48701200-48701600	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr13:48701200-48701600	Flanking Active TSS	Dnd41	blood
40	chr13:48701200-48701600	Enhancers	GM12878-XiMat	blood
41	chr13:48701200-48701600	Flanking Active TSS	HepG2	liver
42	chr13:48701200-48701600	Flanking Active TSS	K562	blood
43	chr13:48701200-48701800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr13:48701200-48701800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr13:48701200-48701800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr13:48701200-48701800	Enhancers	Placenta	Placenta
47	chr13:48701200-48702000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr13:48701200-48702000	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr13:48701200-48702000	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr13:48701200-48702000	Enhancers	Primary B cells from cord blood	blood

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