Variant report

Variant	rs2697180
Chromosome Location	chr7:121046807-121046808
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:121040519..121042218-chr7:121046116..121048635,2	K562	blood:
2	chr7:121044537..121047261-chr7:121056626..121059552,2	K562	blood:
3	chr7:121044117..121046297-chr7:121046416..121048907,2	K562	blood:
4	chr7:121045826..121048497-chr7:121051636..121054633,2	K562	blood:
5	chr7:121037508..121039029-chr7:121046086..121048424,2	K562	blood:

Variant related genes	Relation type
ENSG00000213310	Chromatin interaction
ENSG00000227371	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11971157	0.90[ASN][1000 genomes]
rs11972392	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11974013	1.00[CEU][hapmap]
rs11982913	0.94[ASN][1000 genomes]
rs12532811	0.90[ASN][1000 genomes]
rs12536097	0.88[ASN][1000 genomes]
rs17143359	0.90[ASN][1000 genomes]
rs2141360	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2697175	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2697178	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2707458	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2707486	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2707489	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2707498	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2707499	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2707500	0.85[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2952580	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs56669615	0.90[ASN][1000 genomes]
rs57826126	0.86[ASN][1000 genomes]
rs57839194	0.81[ASN][1000 genomes]
rs6466783	0.90[ASN][1000 genomes]
rs67085750	0.90[ASN][1000 genomes]
rs6950058	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6954718	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6960294	0.90[ASN][1000 genomes]
rs6974427	1.00[CEU][hapmap]
rs73442206	0.90[ASN][1000 genomes]
rs7782605	0.90[ASN][1000 genomes]
rs7800162	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs7806410	1.00[CEU][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	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1026322	chr7:120841937-121188037	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv539102	chr7:120841937-121188037	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2755350	chr7:120848049-121119049	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1032054	chr7:120926379-121432971	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv539103	chr7:120926379-121432971	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS 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	20 gene(s)	inside rSNPs	diseases
7	nsv428507	chr7:121037303-121191934	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121042800-121047800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr7:121046200-121047000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:121046200-121047800	Enhancers	Fetal Intestine Small	intestine
4	chr7:121046200-121048000	Enhancers	Fetal Intestine Large	intestine
5	chr7:121046200-121051800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:121046200-121052000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr7:121046400-121048000	Enhancers	Duodenum Mucosa	Duodenum
8	chr7:121046600-121047000	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr7:121046600-121047400	Enhancers	Placenta	Placenta
10	chr7:121046600-121048000	Enhancers	Rectal Mucosa Donor 31	rectum

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