Variant report

Variant	rs9532378
Chromosome Location	chr13:39990424-39990425
allele	C/T
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]
rs9548756	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:65 , 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	chr13:39984200-39991200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr13:39984600-39991400	Weak transcription	NH-A	brain
6	chr13:39984800-39991400	Weak transcription	NHLF	lung
7	chr13:39985000-39991200	Weak transcription	HSMM	muscle
8	chr13:39986000-39991200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr13:39986000-39991400	Weak transcription	Right Ventricle	heart
10	chr13:39986200-39991000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr13:39986800-39992000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr13:39988600-39991200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr13:39988600-39991600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr13:39988600-39992200	Enhancers	Fetal Stomach	stomach
15	chr13:39988600-39994600	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr13:39988600-39995000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr13:39988800-39994600	Enhancers	Fetal Heart	heart
18	chr13:39989000-39991200	Enhancers	Brain Anterior Caudate	brain
19	chr13:39989000-39991600	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr13:39989200-39991400	Enhancers	NHDF-Ad	bronchial
21	chr13:39989400-39991200	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr13:39989400-39991200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr13:39989400-39993400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr13:39989600-39990600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr13:39989600-39990800	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr13:39989600-39991200	Weak transcription	HSMMtube	muscle
27	chr13:39989600-39991400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr13:39989600-39991400	Enhancers	Brain Cingulate Gyrus	brain
29	chr13:39989600-39993400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr13:39989800-39991400	Weak transcription	Aorta	Aorta
31	chr13:39989800-39991400	Enhancers	Brain Hippocampus Middle	brain
32	chr13:39989800-39991600	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr13:39989800-39991600	Weak transcription	GM12878-XiMat	blood
34	chr13:39989800-39991800	Enhancers	Colon Smooth Muscle	Colon
35	chr13:39989800-39992000	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr13:39990000-39991000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr13:39990000-39991200	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr13:39990000-39991200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr13:39990000-39991200	Weak transcription	Fetal Muscle Leg	muscle
40	chr13:39990000-39991200	Weak transcription	Right Atrium	heart
41	chr13:39990000-39991400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr13:39990000-39991400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr13:39990000-39991400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr13:39990000-39991400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr13:39990000-39991400	Weak transcription	Fetal Muscle Trunk	muscle
46	chr13:39990000-39991400	Weak transcription	Left Ventricle	heart
47	chr13:39990000-39991400	Enhancers	Rectal Smooth Muscle	rectum
48	chr13:39990000-39991600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr13:39990000-39991600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr13:39990000-39991600	Enhancers	HUVEC	blood vessel

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