Variant report

Variant	rs612914
Chromosome Location	chr11:73669045-73669046
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:73666457..73671520-chr11:73672404..73676950,7	K562	blood:
2	chr11:73660834..73662428-chr11:73666510..73669209,2	MCF-7	breast:
3	chr11:73666457..73670493-chr11:73673251..73675540,6	K562	blood:
4	chr11:73666483..73669471-chr16:88828358..88831254,2	MCF-7	breast:
5	chr11:73667291..73669436-chr11:73669915..73671843,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255847	Chromatin interaction
ENSG00000187726	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10793067	0.90[CHB][hapmap];0.80[EUR][1000 genomes]
rs10793068	1.00[CHB][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs10793069	1.00[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs1095399	0.87[EUR][1000 genomes]
rs11235960	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1632159	0.80[CHB][hapmap]
rs1670537	0.80[CHB][hapmap]
rs1670543	0.80[CHB][hapmap]
rs1670551	0.81[EUR][1000 genomes]
rs1670557	0.80[CHB][hapmap]
rs1670564	0.81[CHB][hapmap]
rs1792154	0.80[EUR][1000 genomes]
rs1792156	0.80[CHB][hapmap]
rs1792160	0.81[CHB][hapmap]
rs1792165	0.80[CHB][hapmap]
rs1792170	0.81[EUR][1000 genomes]
rs1792174	0.80[CHB][hapmap]
rs1792193	0.80[CHB][hapmap]
rs1792198	0.80[CHB][hapmap]
rs589295	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs634771	1.00[CHB][hapmap];0.90[JPT][hapmap];0.97[ASN][1000 genomes]
rs653263	1.00[CHB][hapmap];0.93[EUR][1000 genomes];0.88[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	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv1038105	chr11:73552023-73673836	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs612914	MRPL48	cis	multi-tissue	Pritchard
rs612914	PAAF1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73641400-73672200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:73663400-73670400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:73667400-73669800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:73667400-73672000	Weak transcription	HSMMtube	muscle
5	chr11:73667600-73672200	Weak transcription	HSMM	muscle
6	chr11:73668000-73669200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr11:73668000-73670000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
8	chr11:73668200-73669800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:73668400-73669200	Enhancers	Primary B cells from cord blood	blood
10	chr11:73668400-73669200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
11	chr11:73668600-73669200	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr11:73668800-73669200	Bivalent Enhancer	Placenta	Placenta
13	chr11:73668800-73669200	Enhancers	Gastric	stomach
14	chr11:73668800-73669400	Enhancers	Thymus	Thymus
15	chr11:73668800-73672400	Weak transcription	Osteobl	bone
16	chr11:73669000-73669200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr11:73669000-73669600	Active TSS	Duodenum Mucosa	Duodenum
18	chr11:73669000-73669800	Bivalent Enhancer	Stomach Mucosa	stomach
19	chr11:73669000-73669800	Enhancers	K562	blood
20	chr11:73669000-73670600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:73669000-73685800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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