Variant report

Variant	rs73481240
Chromosome Location	chr13:48669837-48669838
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SETDB1	chr13:48669155-48669864	U2OS	brain:	n/a	n/a
2	CTCF	chr13:48669760-48669910	HBMEC	blood vessel:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:48573763..48575874-chr13:48669435..48671518,2	MCF-7	breast:
2	chr13:48668651..48670754-chr13:48805441..48808765,3	MCF-7	breast:
3	chr13:48667865..48670263-chr13:48806295..48809101,2	MCF-7	breast:
4	chr13:48610643..48613395-chr13:48668732..48670612,2	MCF-7	breast:
5	chr13:48651976..48654376-chr13:48667767..48670618,2	K562	blood:

No data

Variant related genes	Relation type
MED4	TF binding region
ENSG00000136159	Chromatin interaction
ENSG00000227848	Chromatin interaction
ENSG00000136156	Chromatin interaction
ENSG00000136146	Chromatin interaction
ENSG00000136143	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12428797	0.95[AFR][1000 genomes]
rs73479190	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73479199	1.00[AFR][1000 genomes]
rs73481288	1.00[AMR][1000 genomes]
rs73483108	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73483122	1.00[AMR][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	nsv430556	chr13:48516799-48679099	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv832601	chr13:48569952-48735939	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48667600-48670000	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr13:48668000-48670000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:48668600-48670000	Active TSS	Colon Smooth Muscle	Colon
4	chr13:48668600-48670000	Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr13:48668600-48670200	Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr13:48668800-48670200	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr13:48669200-48670000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr13:48669200-48670400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr13:48669400-48670000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr13:48669400-48670000	Flanking Active TSS	Dnd41	blood
11	chr13:48669400-48670200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr13:48669400-48670400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr13:48669400-48670400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr13:48669400-48670400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr13:48669400-48670400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr13:48669400-48670600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr13:48669400-48674200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr13:48669600-48670400	Enhancers	HepG2	liver
19	chr13:48669600-48671200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr13:48669600-48671400	Enhancers	Stomach Mucosa	stomach
21	chr13:48669800-48671400	Enhancers	Liver	Liver
22	chr13:48669800-48671400	Enhancers	Fetal Kidney	kidney
23	chr13:48669800-48685400	Weak transcription	Brain Inferior Temporal Lobe	brain

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