Variant report

Variant	rs1407993
Chromosome Location	chr13:95003779-95003780
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs13378631	1.00[EUR][1000 genomes]
rs16949768	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1853482	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1853483	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1886047	1.00[EUR][1000 genomes]
rs28561518	1.00[EUR][1000 genomes]
rs7338097	1.00[EUR][1000 genomes]
rs7992123	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8001759	1.00[EUR][1000 genomes]
rs9584219	1.00[EUR][1000 genomes]
rs9584223	1.00[EUR][1000 genomes]
rs9584224	1.00[EUR][1000 genomes]
rs9584225	1.00[EUR][1000 genomes]
rs9589962	0.88[YRI][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9589963	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9589965	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9589966	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9589968	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9589970	1.00[EUR][1000 genomes]
rs9589971	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9589973	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9589975	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9589976	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9589978	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9589985	1.00[EUR][1000 genomes]
rs9589987	1.00[EUR][1000 genomes]
rs9589990	1.00[EUR][1000 genomes]
rs9589993	1.00[EUR][1000 genomes]
rs9589995	1.00[EUR][1000 genomes]
rs9590001	1.00[EUR][1000 genomes]
rs9590006	1.00[EUR][1000 genomes]
rs9590009	1.00[EUR][1000 genomes]
rs9590010	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916640	chr13:94521959-95101443	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv533063	chr13:94560362-95101443	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv34004	chr13:94906537-95392644	Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv456077	chr13:94993032-95051560	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv562755	chr13:94993032-95051560	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:94995200-95004400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:94997000-95034400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr13:94998000-95003800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:94998200-95003800	Weak transcription	Adipose Nuclei	Adipose
5	chr13:94998400-95009000	Weak transcription	Fetal Stomach	stomach
6	chr13:95001000-95004600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr13:95001000-95007000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr13:95002400-95003800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr13:95003000-95004000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr13:95003000-95004200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr13:95003000-95004600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr13:95003000-95005000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr13:95003000-95005000	Enhancers	NHDF-Ad	bronchial
14	chr13:95003200-95003800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr13:95003200-95003800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr13:95003200-95003800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr13:95003400-95003800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr13:95003400-95004200	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr13:95003400-95004200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr13:95003400-95004200	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr13:95003400-95004600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr13:95003400-95004600	Enhancers	HSMM	muscle
23	chr13:95003400-95004600	Enhancers	NH-A	brain
24	chr13:95003400-95004800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr13:95003600-95003800	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr13:95003600-95003800	Enhancers	Fetal Intestine Small	intestine
27	chr13:95003600-95003800	Enhancers	NHLF	lung
28	chr13:95003600-95004000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr13:95003600-95004000	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr13:95003600-95004200	Flanking Active TSS	Osteobl	bone
31	chr13:95003600-95004600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr13:95003600-95004600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr13:95003600-95004600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr13:95003600-95004800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr13:95003600-95005000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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