Variant report

Variant	rs17123753
Chromosome Location	chr11:120131001-120131002
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120119358..120123435-chr11:120128826..120131276,3	K562	blood:
2	chr11:120118232..120120974-chr11:120130647..120133448,2	MCF-7	breast:
3	chr11:120111344..120113154-chr11:120129036..120131490,2	K562	blood:
4	chr11:120085109..120087647-chr11:120129498..120132466,2	K562	blood:
5	chr11:120124199..120127517-chr11:120128190..120131008,4	K562	blood:
6	chr11:120054557..120056191-chr11:120128819..120131080,2	K562	blood:
7	chr11:120106000..120109277-chr11:120123883..120131527,10	K562	blood:
8	chr11:120130830..120132794-chr11:120150514..120152868,2	K562	blood:
9	chr11:120130583..120133216-chr11:120136162..120137758,2	K562	blood:
10	chr11:120119508..120122030-chr11:120129146..120131276,3	K562	blood:

No data

No data

No data

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10892555	0.84[ASN][1000 genomes]
rs10892556	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217777	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12226448	0.92[ASN][1000 genomes]
rs17123747	1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.82[YRI][hapmap];0.85[EUR][1000 genomes]
rs17123750	0.88[AFR][1000 genomes]
rs2715882	0.97[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	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17123753	OAF	cis	multi-tissue	Pritchard

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120127000-120132000	Weak transcription	Brain Germinal Matrix	brain
2	chr11:120127600-120132400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr11:120127800-120132400	Weak transcription	Right Atrium	heart
4	chr11:120128400-120131400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:120129400-120132800	Enhancers	Placenta	Placenta
6	chr11:120130400-120131400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr11:120130600-120131200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:120130600-120131600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:120130600-120131600	Enhancers	Esophagus	oesophagus
10	chr11:120130800-120131400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr11:120130800-120131400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr11:120130800-120131400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr11:120130800-120132200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:120131000-120131600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:120131000-120131800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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

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