Variant report

Variant	rs7323775
Chromosome Location	chr13:53499128-53499129
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:53498741..53501031-chr13:53504415..53506150,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4884293	0.83[AMR][1000 genomes]
rs8000082	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9536319	0.87[AMR][1000 genomes];1.00[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	nsv530719	chr13:53173014-53675953	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv3440613	chr13:53307609-53671072	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53496200-53499400	Weak transcription	Brain Anterior Caudate	brain
2	chr13:53496200-53503800	Weak transcription	Brain Substantia Nigra	brain
3	chr13:53496800-53500600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:53496800-53502400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr13:53497400-53499600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr13:53497600-53499400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr13:53498200-53500200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr13:53498400-53499400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr13:53498400-53500600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr13:53498400-53500800	Enhancers	Fetal Stomach	stomach
11	chr13:53498400-53508600	Enhancers	Fetal Muscle Leg	muscle
12	chr13:53498600-53499200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr13:53498600-53499200	Enhancers	H1 Cell Line	embryonic stem cell
14	chr13:53498600-53499200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:53498600-53499200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr13:53498600-53499200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr13:53498600-53499600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr13:53498600-53499800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr13:53498600-53499800	Enhancers	NHEK	skin
20	chr13:53498600-53500400	Enhancers	Placenta	Placenta
21	chr13:53498600-53500600	Enhancers	Brain Germinal Matrix	brain
22	chr13:53498600-53501600	Enhancers	HSMM	muscle
23	chr13:53498800-53499200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
24	chr13:53498800-53499600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr13:53498800-53500000	Enhancers	HMEC	breast
26	chr13:53498800-53500600	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr13:53498800-53501000	Enhancers	Esophagus	oesophagus
28	chr13:53498800-53501200	Enhancers	Fetal Muscle Trunk	muscle
29	chr13:53499000-53500000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr13:53499000-53500000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr13:53499000-53500800	Enhancers	HSMMtube	muscle
32	chr13:53499000-53502000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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