Variant report

Variant	rs2007776
Chromosome Location	chr1:212693477-212693478
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212693469..212698326-chr1:212780129..212784311,8	K562	blood:
2	chr1:212688645..212690882-chr1:212691410..212694199,2	MCF-7	breast:
3	chr1:212693408..212696360-chr1:212780129..212783501,6	K562	blood:

Variant related genes	Relation type
ENSG00000162772	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1021379	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11119961	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11119966	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1126526	1.00[CHB][hapmap]
rs12072138	0.82[EUR][1000 genomes]
rs12073156	0.85[EUR][1000 genomes]
rs12079249	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12098184	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12739715	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12748956	0.95[EUR][1000 genomes]
rs1344329	0.81[EUR][1000 genomes]
rs17019266	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17019397	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17019510	1.00[CHB][hapmap]
rs17666978	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2456815	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs3001261	1.00[ASN][1000 genomes]
rs35030678	1.00[ASN][1000 genomes]
rs492231	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs498564	1.00[ASN][1000 genomes]
rs536040	1.00[CHB][hapmap]
rs56085986	1.00[ASN][1000 genomes]
rs593750	1.00[ASN][1000 genomes]
rs641053	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs648577	1.00[ASN][1000 genomes]
rs6680374	1.00[ASN][1000 genomes]
rs71644402	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs71646161	1.00[ASN][1000 genomes]
rs74138553	1.00[ASN][1000 genomes]
rs74138559	1.00[ASN][1000 genomes]
rs7512568	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7530106	1.00[ASN][1000 genomes]
rs7543564	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7549085	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7551910	1.00[ASN][1000 genomes]
rs766342	1.00[EUR][1000 genomes]
rs9429888	1.00[CHB][hapmap]

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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2007776	ANGEL2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212688600-212699400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:212689000-212695400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:212689200-212693600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:212689200-212699800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:212690600-212694000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr1:212691000-212694600	Enhancers	Fetal Intestine Large	intestine
7	chr1:212691200-212694200	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr1:212691200-212694800	Enhancers	Fetal Intestine Small	intestine
9	chr1:212692400-212693600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr1:212692600-212698400	Weak transcription	Left Ventricle	heart
11	chr1:212692600-212700000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:212693400-212693800	Weak transcription	Duodenum Mucosa	Duodenum

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