Variant report

Variant	rs6979781
Chromosome Location	chr7:101229420-101229421
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	chr7:101219940..101222421-chr7:101228950..101232494,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10230317	0.93[EUR][1000 genomes]
rs10260032	0.93[EUR][1000 genomes]
rs10263222	0.81[EUR][1000 genomes]
rs10275446	0.93[EUR][1000 genomes]
rs10275576	0.93[EUR][1000 genomes]
rs17135656	0.86[EUR][1000 genomes]
rs17135662	0.90[CEU][hapmap]
rs1981582	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs2410855	0.86[EUR][1000 genomes]
rs28526614	0.84[EUR][1000 genomes]
rs4727497	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4727498	0.80[ASN][1000 genomes]
rs4727499	0.86[EUR][1000 genomes]
rs4729735	0.94[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs4729736	0.85[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4729737	0.92[ASN][1000 genomes]
rs4729738	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466269	0.98[ASN][1000 genomes]
rs6465820	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6945374	0.86[EUR][1000 genomes]
rs6965503	0.86[EUR][1000 genomes]
rs6979523	0.86[EUR][1000 genomes]
rs6979532	0.86[EUR][1000 genomes]
rs73173941	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7786803	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7793853	0.86[EUR][1000 genomes]
rs7794011	0.86[EUR][1000 genomes]
rs7803577	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv888821	chr7:101091470-101311540	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv831078	chr7:101094945-101257486	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv888822	chr7:101105017-101330734	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv888824	chr7:101109073-101330734	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv888825	chr7:101168283-101330734	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1018544	chr7:101225639-101424889	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers 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	6 gene(s)	inside rSNPs	diseases
8	nsv539045	chr7:101225639-101424889	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6979781	MGC72080	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101223800-101230000	Enhancers	Placenta	Placenta
2	chr7:101227400-101235200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:101227600-101230200	Enhancers	HepG2	liver
4	chr7:101227600-101230400	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr7:101227600-101233400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:101227800-101231600	Enhancers	Fetal Intestine Small	intestine
7	chr7:101228000-101230200	Enhancers	Duodenum Mucosa	Duodenum
8	chr7:101228000-101230800	Enhancers	Fetal Intestine Large	intestine
9	chr7:101228400-101229600	Weak transcription	K562	blood
10	chr7:101228600-101229800	Enhancers	Colonic Mucosa	Colon
11	chr7:101229200-101229800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
12	chr7:101229400-101229800	Enhancers	Stomach Mucosa	stomach
13	chr7:101229400-101230200	Weak transcription	H9 Cell Line	embryonic stem cell

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