Variant report

Variant	rs11686989
Chromosome Location	chr2:183184134-183184135
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	chr2:183182727..183184381-chr2:183186031..183187729,2	K562	blood:

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

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

rs_ID	r²[population]
rs1121403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11679657	0.87[EUR][1000 genomes]
rs11690037	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12328342	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12614214	0.83[EUR][1000 genomes]
rs1370668	0.83[EUR][1000 genomes]
rs1383898	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1438069	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1595447	0.83[EUR][1000 genomes]
rs16823047	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16823686	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55773042	0.81[EUR][1000 genomes]
rs6715692	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6728245	0.80[EUR][1000 genomes]
rs6757164	0.83[EUR][1000 genomes]
rs718448	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7422491	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7589514	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7595025	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs833125	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs833171	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs833173	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs833174	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs833176	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs833177	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs833178	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs833179	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs833181	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv583913	chr2:183043563-183243313	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv533782	chr2:183059730-183500040	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1008825	chr2:183067339-183228668	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv536066	chr2:183067339-183228668	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv459955	chr2:183170516-183204369	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv459956	chr2:183170516-183204369	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv583916	chr2:183170516-183204369	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183175800-183184600	Weak transcription	Right Atrium	heart
2	chr2:183175800-183188400	Weak transcription	Aorta	Aorta
3	chr2:183181600-183186200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:183182200-183185000	Enhancers	NHDF-Ad	bronchial
5	chr2:183182800-183186000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:183183000-183184800	Enhancers	Osteobl	bone
7	chr2:183183000-183185400	Enhancers	Hela-S3	cervix
8	chr2:183183200-183184400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:183183200-183184600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:183183200-183184600	Weak transcription	Colon Smooth Muscle	Colon
11	chr2:183183200-183184600	Enhancers	NH-A	brain
12	chr2:183183200-183184800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:183183200-183185200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr2:183183400-183184600	Weak transcription	Fetal Stomach	stomach
15	chr2:183183600-183184600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:183183800-183184200	Weak transcription	Brain Substantia Nigra	brain
17	chr2:183183800-183184400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:183183800-183184600	Enhancers	Brain Angular Gyrus	brain
19	chr2:183184000-183186400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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