Variant report

Variant	rs7940549
Chromosome Location	chr11:86282679-86282680
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12099044	1.00[ASN][1000 genomes]
rs12292032	1.00[ASN][1000 genomes]
rs17149180	0.81[GIH][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1945141	1.00[ASN][1000 genomes]
rs2156532	1.00[ASN][1000 genomes]
rs34662182	1.00[ASN][1000 genomes]
rs4614483	1.00[ASN][1000 genomes]
rs55642252	1.00[ASN][1000 genomes]
rs56272084	1.00[ASN][1000 genomes]
rs58173252	1.00[ASN][1000 genomes]
rs58968600	1.00[ASN][1000 genomes]
rs59227416	1.00[ASN][1000 genomes]
rs59339534	1.00[ASN][1000 genomes]
rs59415795	1.00[ASN][1000 genomes]
rs61182121	1.00[ASN][1000 genomes]
rs61248687	1.00[ASN][1000 genomes]
rs61372386	1.00[ASN][1000 genomes]
rs7103556	1.00[ASN][1000 genomes]
rs7103642	1.00[ASN][1000 genomes]
rs72961775	1.00[ASN][1000 genomes]
rs73514376	1.00[ASN][1000 genomes]
rs73528019	1.00[ASN][1000 genomes]
rs7941124	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv898056	chr11:86156848-86304402	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv555665	chr11:86230898-86417553	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv1810341	chr11:86282679-86286641	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv1814476	chr11:86282679-86286641	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv522178	chr11:86282680-86285825	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv1815097	chr11:86282680-86286290	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv1809196	chr11:86282680-86286303	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv555666	chr11:86282680-86286397	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv555667	chr11:86282680-86286401	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv555668	chr11:86282680-86286503	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv555669	chr11:86282680-86286590	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv555670	chr11:86282680-86286641	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv1808984	chr11:86282680-86301717	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86263400-86288200	Weak transcription	Aorta	Aorta
2	chr11:86271000-86285400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr11:86271000-86285400	Weak transcription	Right Atrium	heart
4	chr11:86271000-86285600	Weak transcription	Right Ventricle	heart
5	chr11:86271000-86291200	Weak transcription	Gastric	stomach
6	chr11:86272400-86285600	Weak transcription	Psoas Muscle	Psoas
7	chr11:86275400-86299400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr11:86276400-86299800	Weak transcription	Fetal Brain Male	brain
9	chr11:86277400-86287400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:86277400-86287600	Weak transcription	Colon Smooth Muscle	Colon
11	chr11:86277400-86289400	Weak transcription	Brain Anterior Caudate	brain
12	chr11:86278600-86283000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:86279000-86285200	Weak transcription	Hela-S3	cervix
14	chr11:86279000-86285600	Weak transcription	Adipose Nuclei	Adipose
15	chr11:86279000-86289000	Weak transcription	NHEK	skin
16	chr11:86279400-86285600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:86279400-86285600	Weak transcription	Fetal Stomach	stomach
18	chr11:86279400-86285600	Weak transcription	Ovary	ovary
19	chr11:86279800-86282800	Weak transcription	Stomach Mucosa	stomach
20	chr11:86279800-86285400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr11:86279800-86288000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr11:86280000-86285600	Weak transcription	Pancreas	Pancrea
23	chr11:86280600-86285600	Weak transcription	Left Ventricle	heart
24	chr11:86280800-86282800	Enhancers	A549	lung
25	chr11:86281000-86283600	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr11:86281200-86283400	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr11:86281400-86289200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:86281800-86283000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:86281800-86285000	Weak transcription	HUVEC	blood vessel
30	chr11:86282000-86283000	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr11:86282000-86285600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr11:86282000-86285800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr11:86282000-86286000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr11:86282000-86288200	Weak transcription	Colonic Mucosa	Colon
35	chr11:86282000-86288400	Weak transcription	Fetal Intestine Small	intestine
36	chr11:86282200-86283200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr11:86282200-86285600	Weak transcription	Spleen	Spleen
38	chr11:86282400-86283000	Enhancers	Lung	lung
39	chr11:86282400-86285800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:86282400-86287600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:86282600-86283200	Enhancers	Fetal Intestine Large	intestine

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