Variant report

Variant	rs11648335
Chromosome Location	chr16:69597317-69597318
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:69564049..69566185-chr16:69596173..69597747,2	K562	blood:
2	chr16:69594312..69598088-chr16:69599642..69602229,6	MCF-7	breast:
3	chr16:69431073..69434023-chr16:69595294..69598731,3	MCF-7	breast:
4	chr16:69590898..69593139-chr16:69596176..69598406,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000223109	Chromatin interaction
ENSG00000102908	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11075726	0.91[ASN][1000 genomes]
rs11075729	0.89[ASN][1000 genomes]
rs11640319	0.83[ASN][1000 genomes]
rs11641686	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11641722	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2161630	0.92[ASN][1000 genomes]
rs3848278	0.84[ASN][1000 genomes]
rs4633710	0.83[ASN][1000 genomes]
rs57497992	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6499231	0.91[ASN][1000 genomes]
rs7187634	0.83[ASN][1000 genomes]
rs7191292	0.81[ASN][1000 genomes]
rs7192543	0.89[ASN][1000 genomes]
rs7204433	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7205551	0.92[ASN][1000 genomes]
rs8049728	0.83[ASN][1000 genomes]
rs8055756	0.85[ASN][1000 genomes]
rs8061052	0.83[ASN][1000 genomes]
rs8061725	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9302604	0.91[ASN][1000 genomes]
rs9783756	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9938213	0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1852	chr16:69566121-69610962	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11648335	LOC440348	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69574600-69597800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr16:69590000-69597800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr16:69592400-69597600	Enhancers	HepG2	liver
4	chr16:69595200-69598400	Enhancers	Fetal Intestine Large	intestine
5	chr16:69596200-69597600	Weak transcription	A549	lung
6	chr16:69596400-69597600	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr16:69596400-69598000	Weak transcription	Liver	Liver
8	chr16:69596800-69597600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr16:69596800-69597600	Enhancers	GM12878-XiMat	blood
10	chr16:69596800-69597800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr16:69596800-69598000	Enhancers	Primary B cells from cord blood	blood
12	chr16:69597000-69597400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr16:69597000-69597600	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr16:69597000-69598000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr16:69597000-69598200	Enhancers	Fetal Thymus	thymus
16	chr16:69597000-69598400	Enhancers	Primary hematopoietic stem cells	blood
17	chr16:69597200-69597600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr16:69597200-69597600	Weak transcription	Fetal Intestine Small	intestine
19	chr16:69597200-69597800	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr16:69597200-69597800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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