Variant report

Variant	rs13401160
Chromosome Location	chr2:134324446-134324447
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10200825	0.93[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13426165	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16826729	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56861595	1.00[AMR][1000 genomes]
rs58896894	1.00[AMR][1000 genomes]
rs60303968	1.00[AMR][1000 genomes]
rs60532004	1.00[AMR][1000 genomes]
rs60818895	1.00[AMR][1000 genomes]
rs6430430	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6719987	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72992312	1.00[AMR][1000 genomes]
rs72994285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72994288	1.00[AMR][1000 genomes]
rs72996138	1.00[AMR][1000 genomes]
rs73001188	1.00[AMR][1000 genomes]
rs73003129	1.00[AMR][1000 genomes]
rs7576744	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7584046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997821	chr2:133868822-134360220	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535927	chr2:133868822-134360220	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1006101	chr2:134263288-134973917	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	nsv516644	chr2:134301130-134391214	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv431713	chr2:134316522-134413604	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1013713	chr2:134322236-134644574	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv535931	chr2:134322236-134644574	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134315600-134324600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:134320000-134325600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:134322000-134324800	Enhancers	Brain Hippocampus Middle	brain
4	chr2:134322200-134325000	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:134322400-134325800	Weak transcription	Esophagus	oesophagus
6	chr2:134322600-134325600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:134322800-134324600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:134322800-134324600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr2:134323200-134324800	Weak transcription	Right Ventricle	heart
10	chr2:134323400-134324600	Enhancers	Brain Substantia Nigra	brain
11	chr2:134323400-134324800	Enhancers	Left Ventricle	heart
12	chr2:134323600-134324600	Enhancers	Fetal Intestine Small	intestine
13	chr2:134323800-134326400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:134324000-134324600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:134324000-134324600	Enhancers	Brain Angular Gyrus	brain
16	chr2:134324000-134324600	Active TSS	Brain Germinal Matrix	brain
17	chr2:134324000-134324800	Enhancers	Fetal Intestine Large	intestine
18	chr2:134324000-134324800	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr2:134324000-134325000	Enhancers	Fetal Lung	lung
20	chr2:134324000-134325200	Flanking Active TSS	NHDF-Ad	bronchial
21	chr2:134324000-134325600	Enhancers	NHEK	skin
22	chr2:134324000-134326400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:134324200-134324600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:134324200-134324600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:134324200-134324800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:134324200-134325000	Enhancers	Hela-S3	cervix
27	chr2:134324200-134325200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
28	chr2:134324200-134325200	Enhancers	Stomach Mucosa	stomach
29	chr2:134324200-134325600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:134324200-134325600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:134324200-134325600	Enhancers	Fetal Heart	heart
32	chr2:134324200-134326400	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr2:134324200-134326400	Enhancers	HMEC	breast
34	chr2:134324400-134324600	Flanking Active TSS	Liver	Liver
35	chr2:134324400-134324600	Active TSS	Fetal Muscle Trunk	muscle
36	chr2:134324400-134324800	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr2:134324400-134324800	Flanking Active TSS	Brain Anterior Caudate	brain
38	chr2:134324400-134324800	Flanking Active TSS	Brain Cingulate Gyrus	brain
39	chr2:134324400-134325000	Flanking Active TSS	Fetal Muscle Leg	muscle
40	chr2:134324400-134325000	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr2:134324400-134325200	Enhancers	Fetal Brain Male	brain
42	chr2:134324400-134325400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:134324400-134325400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:134324400-134325600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:134324400-134325600	Flanking Active TSS	NHLF	lung
46	chr2:134324400-134325800	Flanking Active TSS	Fetal Stomach	stomach
47	chr2:134324400-134326400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr2:134324400-134326400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:134324400-134326400	Active TSS	Fetal Brain Female	brain
50	chr2:134324400-134326400	Flanking Active TSS	NH-A	brain

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