Variant report

Variant	rs17059807
Chromosome Location	chr13:39976102-39976103
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1323933	1.00[AMR][1000 genomes]
rs17059815	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17059840	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1927203	1.00[AMR][1000 genomes]
rs56778436	1.00[AMR][1000 genomes]
rs58506311	1.00[AMR][1000 genomes]
rs59636796	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74044039	1.00[AMR][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	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1036674	chr13:39841482-40008117	Bivalent Enhancer Genic enhancers Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv900008	chr13:39962791-40020267	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39960000-39979200	Weak transcription	NHDF-Ad	bronchial
2	chr13:39970000-39977200	Weak transcription	Brain Hippocampus Middle	brain
3	chr13:39970200-39979600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr13:39970400-39976600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr13:39971200-39980200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr13:39972400-39979600	Weak transcription	NHLF	lung
7	chr13:39972800-39988600	Weak transcription	Fetal Muscle Leg	muscle
8	chr13:39973200-39976400	Weak transcription	Left Ventricle	heart
9	chr13:39973200-39977600	Weak transcription	Adipose Nuclei	Adipose
10	chr13:39975000-39977800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr13:39975200-39976200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr13:39975200-39976200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr13:39975200-39976200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr13:39975200-39977400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr13:39975200-39977600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr13:39975200-39977800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr13:39975400-39976200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr13:39975400-39976200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr13:39975400-39976200	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr13:39975400-39976200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr13:39975400-39977600	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr13:39975600-39976200	Enhancers	Fetal Brain Female	brain
23	chr13:39975600-39976400	Weak transcription	Ovary	ovary
24	chr13:39975600-39977000	Weak transcription	Aorta	Aorta
25	chr13:39975800-39976800	Weak transcription	Fetal Heart	heart
26	chr13:39975800-39977000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr13:39975800-39979200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr13:39975800-39979600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr13:39975800-39981000	Weak transcription	Right Ventricle	heart
30	chr13:39975800-39988400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr13:39975800-39988600	Weak transcription	Right Atrium	heart
32	chr13:39976000-39977600	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr13:39976000-39979200	Weak transcription	Fetal Brain Male	brain
34	chr13:39976000-39979400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr13:39976000-39979600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr13:39976000-39979600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr13:39976000-39979800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr13:39976000-39981000	Weak transcription	Brain Substantia Nigra	brain

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