Variant report

Variant	rs2285212
Chromosome Location	chr1:169461481-169461482
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:169460825..169464071-chr1:169495499..169498354,3	MCF-7	breast:
2	chr1:169461099..169462759-chr1:169496804..169499532,2	MCF-7	breast:
3	chr1:169460324..169462959-chr1:169483815..169485855,2	K562	blood:

Variant related genes	Relation type
ENSG00000198734	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10919177	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12022575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12024849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12563507	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1894691	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1894703	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2008784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35337011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72706088	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][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	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv831871	chr1:169320673-169486680	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv1001454	chr1:169387381-169465274	Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2285212	NME7	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169456200-169464000	Weak transcription	Esophagus	oesophagus
2	chr1:169456600-169462200	Weak transcription	Placenta	Placenta
3	chr1:169456600-169464200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:169456600-169464200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:169456600-169464200	Weak transcription	HMEC	breast
6	chr1:169457000-169463800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:169457000-169464400	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr1:169457800-169464400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:169458600-169464800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:169460400-169461600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:169460800-169461600	Enhancers	Osteobl	bone
12	chr1:169461000-169461600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:169461000-169461600	Enhancers	Fetal Lung	lung
14	chr1:169461000-169461600	Enhancers	HSMMtube	muscle
15	chr1:169461200-169461600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr1:169461200-169461600	Enhancers	GM12878-XiMat	blood
17	chr1:169461200-169463400	Weak transcription	HepG2	liver
18	chr1:169461400-169461600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:169461400-169461600	Enhancers	Left Ventricle	heart
20	chr1:169461400-169464200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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