Variant report

Variant	rs11689649
Chromosome Location	chr2:46617118-46617119
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:46613072..46615377-chr2:46616117..46618467,2	K562	blood:
2	chr2:46616106..46618804-chr2:46660579..46662953,2	K562	blood:
3	chr2:46603996..46606456-chr2:46616459..46618582,2	K562	blood:
4	chr2:46616407..46617253-chr2:46687109..46688120,3	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11675441	0.83[CHB][hapmap]
rs11678465	0.92[CHB][hapmap];0.87[JPT][hapmap]
rs11678817	0.89[CHB][hapmap]
rs11686509	0.82[EUR][1000 genomes]
rs11689694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11689989	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11694193	1.00[CHB][hapmap]
rs12467821	0.83[CHB][hapmap]
rs13006131	0.85[CHB][hapmap]
rs13019268	0.85[CHB][hapmap]
rs13424253	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1530622	0.80[CEU][hapmap];0.84[CHB][hapmap];0.87[JPT][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1868094	0.80[CEU][hapmap];0.80[EUR][1000 genomes]
rs1900592	0.80[EUR][1000 genomes]
rs3088359	0.81[CEU][hapmap]
rs35145595	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4952823	0.82[ASN][1000 genomes]
rs55864213	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs56058321	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs56140012	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs56161503	0.82[EUR][1000 genomes]
rs56768253	0.82[EUR][1000 genomes]
rs58481769	0.80[EUR][1000 genomes]
rs7567582	0.83[CHB][hapmap];0.93[JPT][hapmap]
rs7583088	0.92[CHB][hapmap];0.87[JPT][hapmap]
rs7583392	0.92[CHB][hapmap];0.87[JPT][hapmap]
rs7594278	1.00[CHB][hapmap]
rs7598371	0.85[CHB][hapmap]
rs7605241	0.82[AMR][1000 genomes]
rs7606559	0.83[CHB][hapmap];0.93[JPT][hapmap]
rs9677412	0.89[CEU][hapmap]

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	nsv1012446	chr2:45921682-46737036	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv916169	chr2:46310963-46622603	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv2757795	chr2:46532812-46874151	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	esv2759046	chr2:46532812-46874151	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	esv34650	chr2:46605659-46818992	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	esv2756919	chr2:46614235-46756431	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46592200-46619800	Weak transcription	K562	blood
2	chr2:46612000-46620600	Weak transcription	Psoas Muscle	Psoas
3	chr2:46612000-46622400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:46613200-46644200	Weak transcription	Aorta	Aorta
5	chr2:46613400-46617200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:46613400-46617400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:46613400-46617400	Weak transcription	Colonic Mucosa	Colon
8	chr2:46614000-46617200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:46614400-46617200	Enhancers	Brain Hippocampus Middle	brain
10	chr2:46614400-46620600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr2:46614600-46617600	Enhancers	HepG2	liver
12	chr2:46614600-46623000	Weak transcription	Esophagus	oesophagus
13	chr2:46615400-46624800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr2:46615600-46617200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr2:46615600-46617400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr2:46615600-46620000	Weak transcription	Lung	lung
17	chr2:46615600-46620000	Weak transcription	HUVEC	blood vessel
18	chr2:46615600-46622400	Weak transcription	Spleen	Spleen
19	chr2:46615800-46617400	Enhancers	Adipose Nuclei	Adipose
20	chr2:46615800-46617600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:46615800-46618000	Weak transcription	HMEC	breast
22	chr2:46615800-46619400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:46615800-46622200	Weak transcription	A549	lung
24	chr2:46615800-46622200	Weak transcription	NHEK	skin
25	chr2:46616000-46617400	Enhancers	NHDF-Ad	bronchial
26	chr2:46616000-46617400	Enhancers	Osteobl	bone
27	chr2:46616000-46617800	Weak transcription	Pancreas	Pancrea
28	chr2:46616200-46617400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:46616200-46618000	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr2:46616200-46618400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:46616200-46622000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:46616400-46617200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:46616400-46617600	Enhancers	Right Atrium	heart
34	chr2:46616400-46618000	Enhancers	Placenta	Placenta
35	chr2:46616800-46617200	Enhancers	Brain Angular Gyrus	brain
36	chr2:46616800-46617200	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr2:46616800-46617600	Enhancers	Brain Substantia Nigra	brain
38	chr2:46616800-46618800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:46616800-46619800	Weak transcription	Right Ventricle	heart
40	chr2:46616800-46620000	Weak transcription	Fetal Muscle Leg	muscle
41	chr2:46616800-46621600	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr2:46617000-46617400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:46617000-46617600	Enhancers	Stomach Mucosa	stomach
44	chr2:46617000-46620600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:46617000-46621600	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr2:46617000-46621800	Weak transcription	Primary monocytes fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links