Variant report

Variant	rs9600465
Chromosome Location	chr13:75990684-75990685
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:75988028..75990689-chr13:75994977..75997792,3	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1105686	0.81[ASN][1000 genomes]
rs12429477	1.00[ASN][1000 genomes]
rs4268647	0.95[ASN][1000 genomes]
rs4362279	0.82[AMR][1000 genomes]
rs7337411	1.00[ASN][1000 genomes]
rs7982953	1.00[ASN][1000 genomes]
rs7995198	0.86[ASN][1000 genomes]
rs9530437	0.81[AMR][1000 genomes]
rs9543924	0.86[ASN][1000 genomes]
rs9543927	0.86[AMR][1000 genomes]
rs9565163	0.86[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	nsv498067	chr13:75178898-76012362	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv2761803	chr13:75943309-76161774	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv455987	chr13:75972846-76090084	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv562346	chr13:75972846-76090084	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:75981200-75990800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:75985200-75991800	Enhancers	HepG2	liver
3	chr13:75985600-75994400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr13:75987800-75994000	Enhancers	Fetal Heart	heart
5	chr13:75988000-75990800	Enhancers	Hela-S3	cervix
6	chr13:75988200-75991200	Enhancers	Fetal Kidney	kidney
7	chr13:75988400-75991400	Weak transcription	Placenta	Placenta
8	chr13:75988400-75997000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr13:75988600-75990800	Enhancers	NHDF-Ad	bronchial
10	chr13:75988600-75991400	Enhancers	HSMMtube	muscle
11	chr13:75988600-75991800	Enhancers	NHLF	lung
12	chr13:75988600-75992400	Enhancers	Osteobl	bone
13	chr13:75988600-75999800	Weak transcription	K562	blood
14	chr13:75988800-75990800	Weak transcription	Gastric	stomach
15	chr13:75988800-75992200	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr13:75989200-75994200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr13:75989400-75991200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr13:75989400-75991400	Enhancers	Fetal Lung	lung
19	chr13:75989400-75991600	Enhancers	HSMM	muscle
20	chr13:75989400-75991800	Enhancers	A549	lung
21	chr13:75989400-75991800	Enhancers	NH-A	brain
22	chr13:75989400-75994400	Enhancers	Adipose Nuclei	Adipose
23	chr13:75989600-75992000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr13:75989600-75993600	Enhancers	HMEC	breast
25	chr13:75989800-75991400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr13:75989800-75991600	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr13:75989800-75991800	Enhancers	Liver	Liver
28	chr13:75989800-75992600	Enhancers	NHEK	skin
29	chr13:75989800-75993600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr13:75990200-75991000	Enhancers	Brain Substantia Nigra	brain
31	chr13:75990200-75991600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr13:75990200-75991600	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr13:75990200-75992200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr13:75990400-75991200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr13:75990400-75991800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr13:75990400-75992000	Enhancers	Muscle Satellite Cultured Cells	--
37	chr13:75990400-75996000	Weak transcription	Colon Smooth Muscle	Colon
38	chr13:75990600-75990800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr13:75990600-75990800	Flanking Active TSS	GM12878-XiMat	blood
40	chr13:75990600-75991000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr13:75990600-75991000	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr13:75990600-75991000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr13:75990600-75991000	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr13:75990600-75991200	Enhancers	Brain Hippocampus Middle	brain
45	chr13:75990600-75991200	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr13:75990600-75991400	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr13:75990600-75991400	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr13:75990600-75991400	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr13:75990600-75991400	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr13:75990600-75991400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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