Variant report

Variant	rs9588151
Chromosome Location	chr13:111039357-111039358
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:111037314..111040155-chr13:111051722..111054664,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11838637	0.85[ASN][1000 genomes]
rs1999013	0.87[ASN][1000 genomes]
rs2391825	0.81[AFR][1000 genomes]
rs4771674	0.84[ASN][1000 genomes]
rs4773173	0.84[ASN][1000 genomes]
rs750598	0.85[ASN][1000 genomes]
rs9515199	0.83[ASN][1000 genomes]
rs9515200	0.88[ASN][1000 genomes]
rs9521730	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs9521732	0.83[ASN][1000 genomes]
rs9521733	0.89[ASN][1000 genomes]
rs9521734	0.89[ASN][1000 genomes]
rs9521739	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs952359	0.84[ASN][1000 genomes]
rs9555695	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038914	chr13:110860219-111190104	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1046423	chr13:110936104-111286607	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv3447880	chr13:111035851-111040549	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv563120	chr13:111037854-111040798	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111024400-111040200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr13:111024800-111039400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr13:111031000-111039800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr13:111031600-111040200	Weak transcription	Aorta	Aorta
5	chr13:111032600-111040200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr13:111033200-111039600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr13:111033200-111039800	Weak transcription	Fetal Lung	lung
8	chr13:111033200-111040200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr13:111033600-111039800	Weak transcription	Spleen	Spleen
10	chr13:111033800-111039800	Weak transcription	Right Atrium	heart
11	chr13:111034000-111041200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr13:111034200-111039800	Weak transcription	Ovary	ovary
13	chr13:111034400-111039600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr13:111034400-111039600	Weak transcription	Adipose Nuclei	Adipose
15	chr13:111034600-111039600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr13:111034600-111039600	Weak transcription	NHDF-Ad	bronchial
17	chr13:111034800-111039800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr13:111034800-111040200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr13:111037200-111039400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr13:111037200-111039400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr13:111037200-111039400	Weak transcription	Fetal Stomach	stomach
22	chr13:111037200-111039600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr13:111037200-111039600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr13:111037200-111039600	Weak transcription	Fetal Heart	heart
25	chr13:111037200-111039600	Weak transcription	Left Ventricle	heart
26	chr13:111037200-111039600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr13:111037200-111039800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr13:111037200-111039800	Weak transcription	Right Ventricle	heart
29	chr13:111037400-111039600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr13:111037400-111039800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr13:111038000-111039600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr13:111038000-111039800	Weak transcription	Osteobl	bone
33	chr13:111038400-111039600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr13:111038400-111039600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr13:111038400-111039600	Weak transcription	Esophagus	oesophagus
36	chr13:111038400-111039600	Weak transcription	Lung	lung
37	chr13:111038400-111039800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr13:111038400-111040000	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr13:111038400-111040200	Weak transcription	Gastric	stomach
40	chr13:111038400-111044200	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr13:111038600-111039600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr13:111038600-111039600	Weak transcription	HSMM	muscle
43	chr13:111038600-111039600	Weak transcription	NHEK	skin
44	chr13:111038600-111039800	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr13:111038600-111039800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr13:111038600-111039800	Weak transcription	NH-A	brain
47	chr13:111038600-111040200	Weak transcription	Fetal Kidney	kidney
48	chr13:111038600-111040200	Weak transcription	Pancreas	Pancrea
49	chr13:111038600-111041200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr13:111038800-111039600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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