Variant report

Variant	rs2107428
Chromosome Location	chr11:17807550-17807551
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1012106	1.00[ASN][1000 genomes]
rs10734255	1.00[ASN][1000 genomes]
rs10766433	1.00[ASN][1000 genomes]
rs10788	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10832821	1.00[ASN][1000 genomes]
rs10832822	1.00[ASN][1000 genomes]
rs10832823	1.00[ASN][1000 genomes]
rs11024354	1.00[ASN][1000 genomes]
rs11024399	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024400	1.00[CEU][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024402	0.89[CEU][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024405	1.00[ASN][1000 genomes]
rs11024406	1.00[ASN][1000 genomes]
rs11024408	0.89[CEU][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11024409	0.90[CEU][hapmap];1.00[ASN][1000 genomes]
rs12290375	1.00[ASN][1000 genomes]
rs12361234	1.00[CEU][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1236205	1.00[ASN][1000 genomes]
rs1236207	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12422210	1.00[ASN][1000 genomes]
rs1528	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2336851	1.00[ASN][1000 genomes]
rs3858514	1.00[ASN][1000 genomes]
rs7125500	1.00[ASN][1000 genomes]
rs71484782	1.00[ASN][1000 genomes]
rs740320	1.00[ASN][1000 genomes]
rs757513	1.00[ASN][1000 genomes]
rs757515	1.00[ASN][1000 genomes]
rs757516	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	nsv467718	chr11:17744992-17809724	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv553589	chr11:17744992-17809724	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv516767	chr11:17758587-17809724	Bivalent Enhancer Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv832078	chr11:17780503-17953521	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv1043973	chr11:17781560-17869896	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17788000-17811400	Weak transcription	Brain Anterior Caudate	brain
2	chr11:17792000-17815000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr11:17792000-17818400	Weak transcription	Right Atrium	heart
4	chr11:17793200-17809800	Weak transcription	Fetal Intestine Small	intestine
5	chr11:17796800-17828800	Weak transcription	Brain Germinal Matrix	brain
6	chr11:17797800-17808600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:17798000-17819800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr11:17801600-17821800	Weak transcription	Spleen	Spleen
9	chr11:17802600-17819400	Weak transcription	Esophagus	oesophagus
10	chr11:17802800-17807600	Weak transcription	Brain Angular Gyrus	brain
11	chr11:17802800-17832400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr11:17803200-17808000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:17803400-17815200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr11:17803400-17819400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr11:17804000-17809200	Weak transcription	HepG2	liver
16	chr11:17804000-17819400	Weak transcription	Liver	Liver
17	chr11:17804600-17807600	Weak transcription	Fetal Brain Female	brain
18	chr11:17804800-17809400	Weak transcription	Ovary	ovary
19	chr11:17804800-17813800	Weak transcription	Pancreas	Pancrea
20	chr11:17805000-17819800	Weak transcription	Fetal Brain Male	brain
21	chr11:17805600-17808400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr11:17805800-17829000	Weak transcription	Fetal Stomach	stomach
23	chr11:17806000-17837800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr11:17806400-17808000	Weak transcription	Adipose Nuclei	Adipose
25	chr11:17806400-17808600	Weak transcription	Primary T cells from cord blood	blood
26	chr11:17806600-17808600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:17806600-17815200	Weak transcription	Lung	lung
28	chr11:17806600-17817200	Weak transcription	Gastric	stomach
29	chr11:17806600-17819400	Weak transcription	Right Ventricle	heart
30	chr11:17806800-17808000	Weak transcription	HSMM	muscle
31	chr11:17806800-17808800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr11:17806800-17867400	Weak transcription	Primary B cells from cord blood	blood
33	chr11:17807200-17808200	Strong transcription	Thymus	Thymus
34	chr11:17807200-17812400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr11:17807200-17818600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr11:17807400-17808800	Strong transcription	Aorta	Aorta
37	chr11:17807400-17809000	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr11:17807400-17810400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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