Variant report

Variant	rs2352480
Chromosome Location	chr7:137943554-137943555
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:137943142..137945844-chr7:137949610..137951608,2	K562	blood:
2	chr7:137942710..137944312-chr7:138144194..138147035,2	K562	blood:

Variant related genes	Relation type
ENSG00000122779	Chromatin interaction

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

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

rs_ID	r²[population]
rs10254254	0.94[ASN][1000 genomes]
rs55956373	0.83[ASN][1000 genomes]
rs56059761	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs56183485	0.81[ASN][1000 genomes]
rs58482857	0.83[ASN][1000 genomes]
rs73729705	0.83[ASN][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	esv34048	chr7:137724092-138213119	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv831152	chr7:137884311-138033117	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv527643	chr7:137929307-137954419	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137941200-137944600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr7:137941400-137943800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr7:137941600-137952200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:137942000-137944600	Enhancers	HepG2	liver
5	chr7:137942200-137944000	Enhancers	NH-A	brain
6	chr7:137942200-137944400	Enhancers	Fetal Heart	heart
7	chr7:137942200-137944800	Enhancers	Ovary	ovary
8	chr7:137942400-137944400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:137942400-137953200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:137942600-137944400	Enhancers	Fetal Intestine Small	intestine
11	chr7:137942600-137946200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:137942800-137944400	Enhancers	Fetal Intestine Large	intestine
13	chr7:137942800-137944600	Enhancers	Hela-S3	cervix
14	chr7:137942800-137945000	Enhancers	Primary hematopoietic stem cells	blood
15	chr7:137943000-137943800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr7:137943000-137943800	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr7:137943000-137943800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr7:137943000-137943800	Weak transcription	Stomach Mucosa	stomach
19	chr7:137943000-137944000	Weak transcription	Fetal Lung	lung
20	chr7:137943200-137944000	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr7:137943200-137944200	Enhancers	K562	blood
22	chr7:137943200-137946600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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