Variant report

Variant	rs9515923
Chromosome Location	chr13:92051599-92051600
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1324062	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2224851	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7322083	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7328355	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7330545	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9523325	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9523328	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042947	chr13:91571040-92416897	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1946 gene(s)	inside rSNPs	diseases
2	nsv541871	chr13:91571040-92416897	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1946 gene(s)	inside rSNPs	diseases
3	esv1803618	chr13:91669587-92277699	Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1945 gene(s)	inside rSNPs	diseases
4	nsv1050259	chr13:91759549-92152078	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1944 gene(s)	inside rSNPs	diseases
5	nsv541872	chr13:91759549-92152078	Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1944 gene(s)	inside rSNPs	diseases
6	nsv1049382	chr13:92024240-92521180	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv541873	chr13:92024240-92521180	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:92050200-92052600	Active TSS	Brain Cingulate Gyrus	brain
2	chr13:92050400-92051600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr13:92050400-92051600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
4	chr13:92050400-92051600	Active TSS	Brain Hippocampus Middle	brain
5	chr13:92050400-92051600	Bivalent/Poised TSS	Fetal Brain Female	brain
6	chr13:92050400-92051800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr13:92050400-92051800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr13:92050400-92052000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr13:92050400-92052000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr13:92050400-92052000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr13:92050400-92052600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr13:92050400-92052600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr13:92050600-92051600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
14	chr13:92050600-92051600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:92050600-92051600	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr13:92050600-92051600	Flanking Bivalent TSS/Enh	Thymus	Thymus
17	chr13:92050600-92051600	Bivalent/Poised TSS	A549	lung
18	chr13:92050600-92051800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr13:92050600-92051800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
20	chr13:92050600-92051800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr13:92050600-92051800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
22	chr13:92050600-92051800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
23	chr13:92050600-92052000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
24	chr13:92050600-92052000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
25	chr13:92050600-92052000	Active TSS	Brain Angular Gyrus	brain
26	chr13:92050600-92052000	Transcr. at gene 5' and 3'	Right Atrium	heart
27	chr13:92050600-92052200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
28	chr13:92050600-92052200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr13:92050600-92052400	Bivalent/Poised TSS	Fetal Kidney	kidney
30	chr13:92050600-92052600	Active TSS	Brain Substantia Nigra	brain
31	chr13:92050600-92053200	Active TSS	Brain Anterior Caudate	brain
32	chr13:92050600-92055200	Active TSS	Hela-S3	cervix
33	chr13:92050800-92051600	Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr13:92050800-92051800	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr13:92050800-92051800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr13:92051000-92051600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr13:92051000-92051600	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
38	chr13:92051000-92051600	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
39	chr13:92051000-92051600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr13:92051000-92051600	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
41	chr13:92051000-92051600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
42	chr13:92051000-92051600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr13:92051000-92051600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr13:92051000-92051600	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
45	chr13:92051000-92051600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
46	chr13:92051000-92051600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
47	chr13:92051000-92051600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
48	chr13:92051000-92051600	Flanking Bivalent TSS/Enh	Placenta	Placenta
49	chr13:92051000-92051600	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
50	chr13:92051000-92051600	Flanking Active TSS	Right Ventricle	heart

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