Variant report

Variant	rs12135668
Chromosome Location	chr1:212685232-212685233
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212683483..212692182-chr1:212779770..212786326,12	K562	blood:
2	chr1:212675568..212680156-chr1:212685148..212688870,4	K562	blood:
3	chr1:212683483..212690052-chr1:212778903..212785088,8	K562	blood:
4	chr1:212660685..212662687-chr1:212682544..212685415,2	K562	blood:

Variant related genes	Relation type
ENSG00000162772	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12131037	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12141407	0.96[EUR][1000 genomes]
rs12729438	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12753186	0.83[ASN][1000 genomes]
rs12754528	0.80[ASN][1000 genomes]
rs13374785	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2005230	0.82[ASN][1000 genomes]
rs2292479	0.83[ASN][1000 genomes]
rs2292481	0.83[ASN][1000 genomes]
rs2292482	0.83[ASN][1000 genomes]
rs3001262	0.89[EUR][1000 genomes]
rs34543166	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36056520	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3951316	0.83[ASN][1000 genomes]
rs525176	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs557252	0.89[EUR][1000 genomes]
rs591176	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs624387	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs626178	0.89[EUR][1000 genomes]
rs638527	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs653006	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs653532	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6669813	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6704297	0.83[ASN][1000 genomes]
rs679840	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs748517	0.95[EUR][1000 genomes]
rs7513550	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7517259	0.83[ASN][1000 genomes]
rs7519767	0.83[ASN][1000 genomes]
rs7529867	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7553229	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs796930	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs806539	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9430096	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	nsv873162	chr1:212610755-212716033	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv527863	chr1:212617423-212700618	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv2757770	chr1:212648143-212843103	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
7	esv2758996	chr1:212648143-212843103	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12135668	TMEM206	cis	Esophagus Mucosa	GTEx
rs12135668	C1orf75	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212667200-212686400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:212681000-212685800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:212681000-212685800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr1:212681000-212686400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:212681000-212686600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:212681000-212686800	Weak transcription	Right Atrium	heart
7	chr1:212681000-212688600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:212682600-212687400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:212685200-212685400	Bivalent Enhancer	Fetal Brain Female	brain
10	chr1:212685200-212685600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr1:212685200-212686000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:212685200-212689000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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