Variant report

Variant	rs9547995
Chromosome Location	chr13:38220102-38220103
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10507458	1.00[YRI][hapmap]
rs12428760	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17056105	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs17056258	0.83[EUR][1000 genomes]
rs17265071	1.00[YRI][hapmap]
rs1924293	0.86[EUR][1000 genomes]
rs41473348	0.86[EUR][1000 genomes]
rs4941878	1.00[YRI][hapmap]
rs4943526	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6563562	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs73452550	0.83[EUR][1000 genomes]
rs73452553	0.83[EUR][1000 genomes]
rs73452556	0.83[EUR][1000 genomes]
rs7997479	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs9532102	0.82[CEU][hapmap]
rs9547952	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs9547955	0.83[EUR][1000 genomes]
rs9547956	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs9547971	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9547972	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9547973	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9547975	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9547982	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9547984	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9547993	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9548009	0.82[CEU][hapmap];0.91[ASN][1000 genomes]
rs9548015	0.83[ASN][1000 genomes]
rs9548024	0.82[CEU][hapmap]

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	nsv948975	chr13:37281203-38280430	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv34109	chr13:37843819-38276391	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1045716	chr13:37952062-38394595	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv915901	chr13:38199035-39032633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38207600-38224000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr13:38208000-38220600	Weak transcription	NH-A	brain
3	chr13:38211400-38221200	Weak transcription	NHDF-Ad	bronchial
4	chr13:38211400-38275600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr13:38211600-38221200	Weak transcription	Ovary	ovary
6	chr13:38218200-38221200	Weak transcription	Osteobl	bone
7	chr13:38219000-38221600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr13:38219200-38220200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr13:38219200-38220400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr13:38219200-38220600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr13:38219200-38220800	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr13:38219200-38221200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr13:38219200-38221800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr13:38219600-38220200	Weak transcription	Placenta	Placenta
15	chr13:38219600-38220400	Enhancers	Fetal Brain Female	brain
16	chr13:38219600-38221200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr13:38219600-38221800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr13:38219600-38230600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr13:38219800-38220400	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr13:38219800-38220800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr13:38219800-38220800	Weak transcription	Fetal Heart	heart
22	chr13:38219800-38220800	Weak transcription	Fetal Kidney	kidney
23	chr13:38219800-38221000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr13:38219800-38221200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr13:38219800-38221200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr13:38219800-38221200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr13:38219800-38221600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr13:38219800-38221800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr13:38219800-38222400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr13:38219800-38223600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr13:38219800-38224400	Weak transcription	Fetal Brain Male	brain
32	chr13:38220000-38220400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr13:38220000-38221000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr13:38220000-38221200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr13:38220000-38221400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr13:38220000-38222000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr13:38220000-38222400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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