Variant report

Variant	rs905223
Chromosome Location	chr5:75495154-75495155
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12186341	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13160008	0.83[EUR][1000 genomes]
rs17566351	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17651293	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34658750	0.82[EUR][1000 genomes]
rs66763318	0.91[EUR][1000 genomes]
rs72773756	0.82[EUR][1000 genomes]
rs884948	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1033350	chr5:75367809-75538460	Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1034853	chr5:75382047-75534981	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv462212	chr5:75388834-75534570	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv598676	chr5:75388834-75534570	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv526084	chr5:75410511-75530494	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75490200-75500200	Weak transcription	Placenta	Placenta
2	chr5:75491000-75495200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:75493600-75495400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:75493800-75495200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:75493800-75500400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:75494000-75495200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr5:75494000-75495200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr5:75494000-75495400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr5:75494600-75496400	Enhancers	Primary T cells from cord blood	blood
10	chr5:75494800-75496000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr5:75495000-75495400	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr5:75495000-75495600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr5:75495000-75495800	Enhancers	Primary hematopoietic stem cells	blood
14	chr5:75495000-75495800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr5:75495000-75495800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:75495000-75495800	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr5:75495000-75496000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr5:75495000-75496000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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