Variant report

Variant	rs9548754
Chromosome Location	chr13:39987245-39987246
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17059768	1.00[CEU][hapmap]
rs9548755	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9566420	0.81[ASN][1000 genomes]
rs9576798	0.85[JPT][hapmap];0.84[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	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:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39972800-39988600	Weak transcription	Fetal Muscle Leg	muscle
2	chr13:39975800-39988400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr13:39975800-39988600	Weak transcription	Right Atrium	heart
4	chr13:39976600-39990600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr13:39977000-39987800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr13:39980200-39988600	Weak transcription	Fetal Stomach	stomach
7	chr13:39981400-39991800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr13:39981400-39991800	Weak transcription	NHEK	skin
9	chr13:39981800-39988600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr13:39983400-39989400	Weak transcription	Left Ventricle	heart
11	chr13:39983600-39987400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr13:39984200-39991200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr13:39984600-39989000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr13:39984600-39989800	Weak transcription	Brain Angular Gyrus	brain
15	chr13:39984600-39991400	Weak transcription	NH-A	brain
16	chr13:39984800-39988400	Weak transcription	Fetal Lung	lung
17	chr13:39984800-39988800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr13:39984800-39989200	Weak transcription	HSMMtube	muscle
19	chr13:39984800-39991400	Weak transcription	NHLF	lung
20	chr13:39985000-39987400	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr13:39985000-39988000	Weak transcription	Brain Substantia Nigra	brain
22	chr13:39985000-39988800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr13:39985000-39989000	Weak transcription	Brain Hippocampus Middle	brain
24	chr13:39985000-39989200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr13:39985000-39989200	Weak transcription	NHDF-Ad	bronchial
26	chr13:39985000-39990000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr13:39985000-39990400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr13:39985000-39991200	Weak transcription	HSMM	muscle
29	chr13:39985200-39988400	Weak transcription	HUVEC	blood vessel
30	chr13:39985200-39989600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr13:39985400-39989600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr13:39985600-39988800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr13:39986000-39988600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr13:39986000-39988600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr13:39986000-39988600	Weak transcription	Ovary	ovary
36	chr13:39986000-39989000	Weak transcription	Brain Anterior Caudate	brain
37	chr13:39986000-39991200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr13:39986000-39991400	Weak transcription	Right Ventricle	heart
39	chr13:39986200-39988600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr13:39986200-39988600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr13:39986200-39989400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr13:39986200-39989400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr13:39986200-39991000	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr13:39986400-39988200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr13:39986400-39988600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr13:39986400-39988600	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr13:39986400-39989000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr13:39986400-39989000	Weak transcription	Osteobl	bone
49	chr13:39986600-39988200	Weak transcription	Adipose Nuclei	Adipose
50	chr13:39986600-39988800	Weak transcription	Fetal Heart	heart

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