Variant report

Variant	rs4985522
Chromosome Location	chr16:69789602-69789603
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:69789359-69789803	GM12892	blood:	n/a	n/a
2	POLR2A	chr16:69789350-69789915	GM12891	blood:	n/a	n/a
3	POLR2A	chr16:69789579-69789619	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr16:69789353-69790053	GM12878	blood:	n/a	n/a
5	POLR2A	chr16:69789375-69789871	GM12878	blood:	n/a	n/a
6	CTCF	chr16:69788154-69789668	SK-N-SH	brain:	n/a	chr16:69788916-69788934 chr16:69788918-69788931 chr16:69788917-69788933 chr16:69788918-69788931

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:69598363..69600435-chr16:69788003..69790759,3	MCF-7	breast:
2	chr16:69785030..69792317-chr16:69794435..69797821,11	MCF-7	breast:
3	chr16:69787301..69791461-chr16:69794716..69798365,9	K562	blood:
4	chr16:69742300..69746801-chr16:69786779..69790470,7	MCF-7	breast:
5	chr16:69787238..69789722-chr16:69814157..69817043,3	MCF-7	breast:
6	chr16:69757296..69762552-chr16:69785671..69789636,11	K562	blood:
7	chr16:69756628..69762611-chr16:69781362..69792848,24	MCF-7	breast:
8	chr16:69741307..69747044-chr16:69787229..69790189,11	MCF-7	breast:
9	chr16:69598159..69601662-chr16:69788408..69790769,3	K562	blood:
10	chr16:69758127..69765240-chr16:69786072..69790209,13	K562	blood:
11	chr16:69787313..69790862-chr16:69792512..69798249,7	K562	blood:

No data

Variant related genes	Relation type
NOB1	TF binding region
ENSG00000261602	Chromatin interaction
ENSG00000262136	Chromatin interaction
ENSG00000223109	Chromatin interaction
ENSG00000181019	Chromatin interaction
ENSG00000102908	Chromatin interaction
ENSG00000238683	Chromatin interaction
ENSG00000198373	Chromatin interaction
ENSG00000252670	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12448486	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12448499	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12596945	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12921782	0.82[ASN][1000 genomes]
rs12924052	0.82[ASN][1000 genomes]
rs12926035	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2917678	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2965749	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3811348	0.83[ASN][1000 genomes]
rs6499251	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7186296	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][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	nsv906823	chr16:69711533-69959223	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats 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	54 gene(s)	inside rSNPs	diseases
2	nsv524364	chr16:69745145-69803443	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4985522	LOC440348	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69789000-69795800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:69789200-69790000	Weak transcription	Brain Anterior Caudate	brain
3	chr16:69789200-69790000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr16:69789200-69791000	Weak transcription	K562	blood
5	chr16:69789200-69791200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr16:69789200-69791200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr16:69789200-69794600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr16:69789200-69795000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr16:69789200-69795000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr16:69789200-69795200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr16:69789200-69795400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr16:69789200-69795400	Weak transcription	GM12878-XiMat	blood
13	chr16:69789200-69795400	Weak transcription	HUVEC	blood vessel
14	chr16:69789200-69795600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr16:69789200-69795600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr16:69789200-69795600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr16:69789200-69795600	Weak transcription	Right Atrium	heart
18	chr16:69789200-69795600	Weak transcription	Osteobl	bone
19	chr16:69789200-69795800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr16:69789400-69790000	Enhancers	HepG2	liver
21	chr16:69789400-69795000	Weak transcription	Dnd41	blood
22	chr16:69789400-69795400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr16:69789400-69795600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr16:69789400-69795600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr16:69789400-69795600	Weak transcription	NHEK	skin
26	chr16:69789600-69795600	Weak transcription	A549	lung

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