Variant report

Variant	rs2112912
Chromosome Location	chr5:106940519-106940520
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17160246	0.82[CHB][hapmap]
rs17160255	0.91[CHB][hapmap]
rs17160261	0.87[CHB][hapmap]
rs17160301	0.83[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034276	chr5:106461538-106944163	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv537851	chr5:106461538-106944163	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	esv34018	chr5:106720912-107110506	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106926000-106941000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:106929400-106945400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:106930600-106944200	Weak transcription	Esophagus	oesophagus
4	chr5:106930800-106940600	Weak transcription	HSMM	muscle
5	chr5:106933400-106952600	Weak transcription	Aorta	Aorta
6	chr5:106933600-106940600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:106934400-106941000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr5:106935000-106941400	Weak transcription	HUVEC	blood vessel
9	chr5:106935600-106940600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr5:106935800-106942600	Enhancers	Fetal Heart	heart
11	chr5:106935800-106942800	Weak transcription	Fetal Kidney	kidney
12	chr5:106936000-106941400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr5:106936200-106941400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr5:106937200-106942800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:106937800-106942200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr5:106937800-106942400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr5:106937800-106944600	Enhancers	Fetal Brain Male	brain
18	chr5:106938200-106941000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr5:106938200-106942600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr5:106938600-106940800	Weak transcription	Fetal Stomach	stomach
21	chr5:106938800-106944600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:106939200-106941000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:106939200-106942200	Enhancers	NHDF-Ad	bronchial
24	chr5:106939400-106940600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr5:106939600-106940600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr5:106939600-106940600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr5:106939600-106940600	Weak transcription	A549	lung
28	chr5:106939800-106940800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr5:106939800-106941800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr5:106939800-106941800	Enhancers	Left Ventricle	heart
31	chr5:106939800-106942200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr5:106939800-106942800	Weak transcription	Fetal Brain Female	brain
33	chr5:106940000-106940600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:106940000-106940600	Enhancers	HMEC	breast
35	chr5:106940000-106941200	Enhancers	NHEK	skin
36	chr5:106940000-106941800	Enhancers	Primary hematopoietic stem cells	blood
37	chr5:106940000-106941800	Enhancers	Fetal Thymus	thymus
38	chr5:106940000-106942600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr5:106940200-106941200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:106940200-106942000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr5:106940400-106940600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr5:106940400-106940800	Flanking Active TSS	GM12878-XiMat	blood
43	chr5:106940400-106941000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr5:106940400-106941000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr5:106940400-106941000	Enhancers	Thymus	Thymus
46	chr5:106940400-106941200	Enhancers	Primary T cells from cord blood	blood
47	chr5:106940400-106941400	Enhancers	Right Ventricle	heart
48	chr5:106940400-106941600	Enhancers	NHLF	lung
49	chr5:106940400-106941800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr5:106940400-106941800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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