Variant report

Variant	rs1653797
Chromosome Location	chr2:134359615-134359616
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10194577	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10209819	0.82[EUR][1000 genomes]
rs12691839	0.88[ASN][1000 genomes]
rs12987374	0.84[ASN][1000 genomes]
rs13021524	1.00[CHB][hapmap]
rs1432282	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1653799	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1653800	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1653801	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1653802	0.84[ASN][1000 genomes]
rs1653803	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1653804	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1669454	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1669458	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1669460	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs34533303	0.81[ASN][1000 genomes]
rs4953886	0.86[CEU][hapmap];1.00[CHB][hapmap];0.90[YRI][hapmap];0.84[ASN][1000 genomes]
rs4954069	0.88[ASN][1000 genomes]
rs6430434	0.88[ASN][1000 genomes]
rs6760534	0.84[ASN][1000 genomes]
rs72849430	0.88[ASN][1000 genomes]
rs7607909	0.88[ASN][1000 genomes]
rs891822	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134345400-134360000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:134345400-134360000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:134352200-134360000	Weak transcription	NHEK	skin
4	chr2:134354600-134362600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr2:134355000-134359800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:134355000-134362200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:134355800-134361200	Enhancers	Fetal Muscle Leg	muscle
8	chr2:134356200-134359800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:134356600-134359800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr2:134356800-134360600	Enhancers	Fetal Brain Male	brain
11	chr2:134357400-134359800	Weak transcription	Right Atrium	heart
12	chr2:134357600-134362400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:134357800-134360800	Enhancers	Brain Hippocampus Middle	brain
14	chr2:134358200-134362600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr2:134358400-134359800	Weak transcription	Fetal Heart	heart
16	chr2:134358400-134360000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:134358400-134362400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr2:134358800-134359800	Weak transcription	Brain Angular Gyrus	brain
19	chr2:134358800-134359800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:134358800-134359800	Weak transcription	Brain Substantia Nigra	brain
21	chr2:134358800-134359800	Weak transcription	Fetal Brain Female	brain
22	chr2:134358800-134359800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr2:134358800-134362600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr2:134359000-134362600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:134359400-134360600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:134359400-134360600	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr2:134359400-134361000	Enhancers	Right Ventricle	heart
28	chr2:134359600-134360200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:134359600-134360400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:134359600-134360400	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr2:134359600-134360400	Enhancers	Fetal Stomach	stomach
32	chr2:134359600-134360600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:134359600-134360600	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr2:134359600-134360600	Enhancers	Brain Anterior Caudate	brain
35	chr2:134359600-134360600	Enhancers	Brain Germinal Matrix	brain
36	chr2:134359600-134360800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:134359600-134360800	Enhancers	Brain Cingulate Gyrus	brain
38	chr2:134359600-134360800	Enhancers	Left Ventricle	heart
39	chr2:134359600-134360800	Enhancers	NHDF-Ad	bronchial

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