Variant report

Variant	rs34693192
Chromosome Location	chr13:30460323-30460324
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12865275	0.91[EUR][1000 genomes]
rs34396373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34820116	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35544934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35546383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35763398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9506237	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30452200-30461400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:30452200-30468000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr13:30452200-30468200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr13:30452600-30472200	Weak transcription	Ovary	ovary
5	chr13:30456200-30462800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr13:30458200-30460400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr13:30458200-30460800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr13:30458200-30460800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr13:30458200-30461000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr13:30458200-30461000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr13:30458200-30463400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr13:30458600-30460400	Weak transcription	Osteobl	bone
13	chr13:30458600-30462400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr13:30459000-30462000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:30459400-30460400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr13:30459400-30461000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr13:30459400-30461200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr13:30459400-30462000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr13:30459400-30462400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr13:30459400-30462800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr13:30459400-30463600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr13:30459600-30460600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr13:30459600-30460600	Enhancers	Brain Substantia Nigra	brain
24	chr13:30459600-30461800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr13:30459600-30463400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr13:30459600-30463600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr13:30459800-30461800	Weak transcription	Brain Anterior Caudate	brain
28	chr13:30459800-30462600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr13:30460000-30460400	Weak transcription	Brain Angular Gyrus	brain
30	chr13:30460000-30460800	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr13:30460000-30461000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr13:30460000-30461800	Weak transcription	Brain Hippocampus Middle	brain
33	chr13:30460000-30462800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr13:30460200-30460600	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr13:30460200-30461000	Enhancers	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links