Variant report

Variant	rs13404317
Chromosome Location	chr2:48511099-48511100
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17037255	0.90[EUR][1000 genomes]
rs62138796	0.80[EUR][1000 genomes]
rs62138804	0.83[EUR][1000 genomes]
rs62138817	0.83[EUR][1000 genomes]
rs6545025	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1003766	chr2:48102244-48559654	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48505200-48511600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:48505400-48513600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr2:48506000-48539000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:48509600-48511200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr2:48509600-48511600	Weak transcription	Placenta	Placenta
6	chr2:48509600-48511600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr2:48510200-48511600	Weak transcription	K562	blood
8	chr2:48510400-48513000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr2:48510600-48512000	Enhancers	Brain Germinal Matrix	brain
10	chr2:48510800-48511400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr2:48510800-48511400	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr2:48510800-48511600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:48510800-48511600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr2:48510800-48512200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:48510800-48512600	Enhancers	H9 Cell Line	embryonic stem cell
16	chr2:48511000-48511400	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr2:48511000-48511400	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr2:48511000-48512000	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr2:48511000-48512200	Enhancers	Fetal Brain Female	brain

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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