Variant report

Variant	rs2761943
Chromosome Location	chr13:39992311-39992312
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1323937	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1323938	0.86[YRI][hapmap]
rs499031	0.92[YRI][hapmap]
rs528623	0.86[YRI][hapmap]
rs581783	0.81[YRI][hapmap]
rs646633	0.86[YRI][hapmap]
rs7335423	0.85[YRI][hapmap]
rs7985373	0.86[YRI][hapmap]
rs9548759	0.85[YRI][hapmap]

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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39988600-39994600	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr13:39988600-39995000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr13:39988800-39994600	Enhancers	Fetal Heart	heart
4	chr13:39989400-39993400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr13:39989600-39993400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr13:39990000-39993400	Enhancers	Fetal Lung	lung
7	chr13:39990600-39994600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr13:39991000-39993200	Enhancers	Placenta Amnion	Placenta Amnion
9	chr13:39991200-39992400	Enhancers	Ovary	ovary
10	chr13:39991200-39994600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr13:39991400-39992400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr13:39991400-39992400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr13:39991400-39992400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr13:39991400-39997600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr13:39991600-39992400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr13:39991600-39992400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr13:39991600-39992400	Flanking Active TSS	NH-A	brain
18	chr13:39991800-39992400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr13:39991800-39992400	Enhancers	HMEC	breast
20	chr13:39991800-39992400	Enhancers	NHEK	skin
21	chr13:39992000-39992400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr13:39992000-39992600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr13:39992000-39992800	Weak transcription	Brain Cingulate Gyrus	brain
24	chr13:39992000-39992800	Enhancers	HSMM	muscle
25	chr13:39992000-39992800	Enhancers	HUVEC	blood vessel
26	chr13:39992000-39993000	Enhancers	H9 Cell Line	embryonic stem cell
27	chr13:39992000-39993400	Enhancers	Brain Hippocampus Middle	brain
28	chr13:39992000-39993600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr13:39992000-39993600	Enhancers	Brain Substantia Nigra	brain
30	chr13:39992000-39994000	Weak transcription	Left Ventricle	heart
31	chr13:39992000-39994400	Weak transcription	Brain Germinal Matrix	brain
32	chr13:39992000-39994600	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr13:39992000-39995000	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr13:39992000-40018600	Weak transcription	Right Ventricle	heart
35	chr13:39992200-39992400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
36	chr13:39992200-39992400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr13:39992200-39992400	Weak transcription	Aorta	Aorta
38	chr13:39992200-39992400	Enhancers	NHDF-Ad	bronchial
39	chr13:39992200-39992600	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr13:39992200-39992800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr13:39992200-39992800	Weak transcription	Brain Anterior Caudate	brain
42	chr13:39992200-39992800	Enhancers	Osteobl	bone
43	chr13:39992200-39993200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr13:39992200-39994200	Weak transcription	Brain Angular Gyrus	brain
45	chr13:39992200-39994400	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr13:39992200-39994400	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr13:39992200-39994600	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr13:39992200-39994600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr13:39992200-39997600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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