Variant report

Variant	rs13385411
Chromosome Location	chr2:134415806-134415807
allele	G/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:8)

rs_ID	r²[population]
rs10193374	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13407575	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16827735	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55646124	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58763272	0.84[AFR][1000 genomes]
rs62177769	0.81[AFR][1000 genomes]
rs62180300	0.83[AFR][1000 genomes]
rs72843232	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv998920	chr2:134382097-134424640	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134399400-134416000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:134411200-134416200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:134411200-134429800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:134412600-134416000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:134413000-134416400	Enhancers	NHDF-Ad	bronchial
6	chr2:134414800-134416400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:134414800-134416600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr2:134414800-134416800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:134415000-134416000	Enhancers	NHEK	skin
10	chr2:134415000-134416600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr2:134415200-134416000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:134415200-134416000	Enhancers	Brain Anterior Caudate	brain
13	chr2:134415200-134416200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr2:134415200-134416200	Weak transcription	Osteobl	bone
15	chr2:134415200-134416400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:134415400-134416600	Enhancers	NH-A	brain
17	chr2:134415600-134416600	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr2:134415800-134416000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:134415800-134416200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr2:134415800-134416400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:134415800-134416400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links