Variant report

Variant	rs913517
Chromosome Location	chr10:97049663-97049664
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:97006028..97006567-chr10:97049362..97049915,2	MCF-7	breast:
2	chr10:97048197..97050132-chr10:97070905..97072692,2	MCF-7	breast:
3	chr10:97031617..97033623-chr10:97049399..97051211,2	K562	blood:
4	chr10:97047892..97049981-chr10:97088478..97090933,2	MCF-7	breast:
5	chr10:96989099..96991002-chr10:97047738..97051859,4	MCF-7	breast:
6	chr10:97002381..97008883-chr10:97045266..97052392,13	MCF-7	breast:
7	chr10:97023137..97024649-chr10:97048787..97050553,2	MCF-7	breast:
8	chr10:97030116..97038568-chr10:97046190..97052064,12	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000107438	Chromatin interaction
ENSG00000234026	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1471730	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs45456491	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7916334	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs9731008	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529726	chr10:96632494-97106315	Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	esv15160	chr10:96942869-97074756	Bivalent Enhancer Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs913517	PDLIM1	cis	cerebellum	SCAN

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97047000-97051000	Active TSS	Right Atrium	heart
2	chr10:97047400-97051200	Active TSS	Aorta	Aorta
3	chr10:97047600-97050000	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr10:97047800-97051000	Active TSS	Fetal Intestine Large	intestine
5	chr10:97048200-97051400	Active TSS	Rectal Smooth Muscle	rectum
6	chr10:97048400-97050400	Active TSS	Colonic Mucosa	Colon
7	chr10:97048400-97051000	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr10:97048400-97051000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr10:97048400-97051000	Active TSS	Small Intestine	intestine
10	chr10:97048400-97051200	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr10:97048600-97050200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr10:97048800-97049800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr10:97048800-97049800	Flanking Active TSS	NHDF-Ad	bronchial
14	chr10:97048800-97050000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr10:97048800-97050400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
16	chr10:97048800-97051000	Active TSS	Placenta Amnion	Placenta Amnion
17	chr10:97049000-97049800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr10:97049000-97049800	Flanking Active TSS	HSMMtube	muscle
19	chr10:97049000-97050000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
20	chr10:97049000-97050000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr10:97049000-97050000	Flanking Active TSS	Placenta	Placenta
22	chr10:97049000-97050000	Flanking Active TSS	NH-A	brain
23	chr10:97049000-97050200	Bivalent Enhancer	Fetal Brain Male	brain
24	chr10:97049000-97050600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
25	chr10:97049000-97050800	Active TSS	Gastric	stomach
26	chr10:97049000-97051000	Active TSS	Sigmoid Colon	Sigmoid Colon
27	chr10:97049000-97051200	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr10:97049000-97051400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr10:97049000-97051400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
30	chr10:97049000-97051400	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr10:97049200-97049800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr10:97049200-97049800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr10:97049200-97049800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr10:97049200-97049800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
35	chr10:97049200-97050000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
36	chr10:97049200-97050000	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
37	chr10:97049200-97050000	Flanking Active TSS	Hela-S3	cervix
38	chr10:97049200-97050000	Flanking Active TSS	Osteobl	bone
39	chr10:97049200-97050200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr10:97049200-97050200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr10:97049200-97051000	Active TSS	Rectal Mucosa Donor 31	rectum
42	chr10:97049200-97051000	Active TSS	Stomach Mucosa	stomach
43	chr10:97049200-97051200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr10:97049200-97051200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr10:97049200-97051400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
46	chr10:97049200-97051400	Active TSS	NHEK	skin
47	chr10:97049400-97049800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr10:97049400-97049800	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr10:97049400-97049800	Flanking Active TSS	Spleen	Spleen
50	chr10:97049400-97050000	Flanking Active TSS	Primary B cells from cord blood	blood

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