Variant report

Variant	rs7929679
Chromosome Location	chr11:34805849-34805850
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:34805559..34807304-chr11:34808633..34811203,2	K562	blood:
2	chr11:34802267..34806129-chr11:34812467..34815224,3	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10742325	0.86[ASN][1000 genomes]
rs10742326	0.84[ASN][1000 genomes]
rs10768099	0.81[ASN][1000 genomes]
rs10768100	0.81[ASN][1000 genomes]
rs10836295	0.81[ASN][1000 genomes]
rs10836306	0.81[ASN][1000 genomes]
rs10836307	0.81[ASN][1000 genomes]
rs10836310	0.86[ASN][1000 genomes]
rs10836311	0.86[ASN][1000 genomes]
rs10836312	0.86[ASN][1000 genomes]
rs10836314	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11032848	0.81[ASN][1000 genomes]
rs11032860	0.81[ASN][1000 genomes]
rs11032865	0.92[ASN][1000 genomes]
rs11032866	0.86[ASN][1000 genomes]
rs11032867	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11032868	0.86[ASN][1000 genomes]
rs11032870	0.86[ASN][1000 genomes]
rs11032872	0.86[ASN][1000 genomes]
rs11032874	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12280698	0.81[ASN][1000 genomes]
rs12286940	0.81[ASN][1000 genomes]
rs1396885	0.86[ASN][1000 genomes]
rs1396887	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1588354	0.86[ASN][1000 genomes]
rs1588355	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2116086	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2136508	0.81[ASN][1000 genomes]
rs2136509	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2421740	0.81[ASN][1000 genomes]
rs7116210	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7122506	0.81[ASN][1000 genomes]
rs7932115	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7933927	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7942593	0.81[ASN][1000 genomes]
rs7942701	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832117	chr11:34639008-34831199	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv869812	chr11:34648088-34810956	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv832118	chr11:34743123-34903951	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv897214	chr11:34764251-34821948	Weak transcription Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

Variant related diseases (count:1)

Disease	PMID	Source
Chronic obstructive pulmonary disease-related biomarkers	23144326	GWAS catalog

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34792200-34811000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:34802800-34811200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:34804000-34811000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:34804800-34806600	Flanking Active TSS	HepG2	liver
5	chr11:34805000-34806400	Enhancers	Stomach Mucosa	stomach
6	chr11:34805200-34806000	Enhancers	K562	blood
7	chr11:34805200-34806200	Flanking Active TSS	Liver	Liver
8	chr11:34805600-34806000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:34805600-34806000	Enhancers	Gastric	stomach
10	chr11:34805600-34806000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
11	chr11:34805800-34812800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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