Variant report

Variant	rs9548756
Chromosome Location	chr13:39989182-39989183
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs7332526	0.89[TSI][hapmap]
rs9532378	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[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:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39976600-39990600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr13:39981400-39991800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr13:39981400-39991800	Weak transcription	NHEK	skin
4	chr13:39983400-39989400	Weak transcription	Left Ventricle	heart
5	chr13:39984200-39991200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr13:39984600-39989800	Weak transcription	Brain Angular Gyrus	brain
7	chr13:39984600-39991400	Weak transcription	NH-A	brain
8	chr13:39984800-39989200	Weak transcription	HSMMtube	muscle
9	chr13:39984800-39991400	Weak transcription	NHLF	lung
10	chr13:39985000-39989200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr13:39985000-39989200	Weak transcription	NHDF-Ad	bronchial
12	chr13:39985000-39990000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr13:39985000-39990400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr13:39985000-39991200	Weak transcription	HSMM	muscle
15	chr13:39985200-39989600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr13:39985400-39989600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr13:39986000-39991200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr13:39986000-39991400	Weak transcription	Right Ventricle	heart
19	chr13:39986200-39989400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr13:39986200-39989400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr13:39986200-39991000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr13:39986600-39989200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr13:39986600-39989800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr13:39986800-39989400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr13:39986800-39992000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr13:39987000-39989600	Weak transcription	Fetal Muscle Trunk	muscle
27	chr13:39987200-39989400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr13:39988000-39989200	Enhancers	Brain Substantia Nigra	brain
29	chr13:39988000-39989800	Enhancers	GM12878-XiMat	blood
30	chr13:39988200-39989200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr13:39988200-39989400	Enhancers	Adipose Nuclei	Adipose
32	chr13:39988200-39989600	Enhancers	Primary B cells from cord blood	blood
33	chr13:39988400-39989400	Enhancers	HUVEC	blood vessel
34	chr13:39988400-39989600	Enhancers	Rectal Smooth Muscle	rectum
35	chr13:39988400-39989800	Enhancers	Fetal Lung	lung
36	chr13:39988600-39989200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr13:39988600-39989400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr13:39988600-39989800	Enhancers	Aorta	Aorta
39	chr13:39988600-39990000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr13:39988600-39990000	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr13:39988600-39990000	Enhancers	Fetal Muscle Leg	muscle
42	chr13:39988600-39990200	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr13:39988600-39991200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr13:39988600-39991600	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr13:39988600-39992200	Enhancers	Fetal Stomach	stomach
46	chr13:39988600-39994600	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr13:39988600-39995000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr13:39988800-39989200	Enhancers	Brain Cingulate Gyrus	brain
49	chr13:39988800-39989200	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr13:39988800-39989200	Weak transcription	Right Atrium	heart

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