Variant report

Variant	rs12991902
Chromosome Location	chr2:12010851-12010852
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:12008707..12011170-chr2:12011267..12015363,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12463701	1.00[ASN][1000 genomes]
rs12464227	1.00[ASN][1000 genomes]
rs12469736	1.00[ASN][1000 genomes]
rs12471363	1.00[ASN][1000 genomes]
rs12472165	1.00[ASN][1000 genomes]
rs12475585	1.00[ASN][1000 genomes]
rs12476249	1.00[ASN][1000 genomes]
rs12478633	1.00[ASN][1000 genomes]
rs12478664	1.00[ASN][1000 genomes]
rs12478705	1.00[ASN][1000 genomes]
rs28420399	1.00[ASN][1000 genomes]
rs34506780	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34819724	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34900642	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35954069	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41378155	1.00[ASN][1000 genomes]
rs58143595	1.00[ASN][1000 genomes]
rs60510807	1.00[ASN][1000 genomes]
rs60873627	1.00[ASN][1000 genomes]
rs6708806	1.00[ASN][1000 genomes]
rs6715248	1.00[ASN][1000 genomes]
rs6715988	1.00[ASN][1000 genomes]
rs71446438	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73915889	1.00[ASN][1000 genomes]
rs73915899	1.00[ASN][1000 genomes]
rs73915902	1.00[ASN][1000 genomes]
rs73918407	1.00[ASN][1000 genomes]
rs73918410	1.00[ASN][1000 genomes]
rs73918411	1.00[ASN][1000 genomes]
rs73918413	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
4	nsv833403	chr2:11944552-12125634	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
5	nsv508710	chr2:11982971-12028555	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv2611	chr2:12007152-12052170	Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:12004200-12012600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr2:12004400-12012600	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr2:12004400-12012800	Weak transcription	Esophagus	oesophagus
4	chr2:12004400-12012800	Weak transcription	Stomach Mucosa	stomach
5	chr2:12004400-12015400	Weak transcription	Gastric	stomach
6	chr2:12004600-12012800	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr2:12005000-12013600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:12007600-12012600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr2:12009600-12011000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:12009600-12011200	Enhancers	H1 Cell Line	embryonic stem cell
11	chr2:12009600-12011200	Enhancers	K562	blood
12	chr2:12009800-12011000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:12009800-12011000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:12010000-12011000	Enhancers	Fetal Heart	heart
15	chr2:12010200-12012000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:12010200-12012800	Weak transcription	Pancreas	Pancrea
17	chr2:12010600-12011400	Enhancers	Primary B cells from peripheral blood	blood
18	chr2:12010600-12011600	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr2:12010600-12013400	Flanking Active TSS	GM12878-XiMat	blood
20	chr2:12010800-12011000	Enhancers	Primary B cells from cord blood	blood
21	chr2:12010800-12011400	Enhancers	Primary monocytes fromperipheralblood	blood

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