Variant report

Variant	rs12135286
Chromosome Location	chr1:222218761-222218762
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:221897172..221898775-chr1:222217988..222220740,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11118926	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12033415	0.84[EUR][1000 genomes]
rs12121134	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12125368	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12125383	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12140604	0.84[EUR][1000 genomes]
rs12731064	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12739936	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17011182	0.84[EUR][1000 genomes]
rs17011200	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17442058	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17442323	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17495159	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35212520	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35718308	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35805428	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56170536	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs66732677	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6687758	0.84[EUR][1000 genomes]
rs6691195	0.84[EUR][1000 genomes]
rs6695584	0.84[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014333	chr1:222131785-222245578	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12135286	RP11-400N13.2	cis	lung	GTEx
rs12135286	RP11-815M8.1	cis	lung	GTEx

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222215200-222219400	Enhancers	HSMMtube	muscle
2	chr1:222215200-222219600	Enhancers	HSMM	muscle
3	chr1:222216600-222219000	Enhancers	Left Ventricle	heart
4	chr1:222217000-222219200	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr1:222217000-222222400	Weak transcription	Right Ventricle	heart
6	chr1:222217200-222221600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:222217400-222219600	Enhancers	Fetal Heart	heart
8	chr1:222217400-222220200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:222217400-222221400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr1:222217400-222223800	Weak transcription	Aorta	Aorta
11	chr1:222217800-222219000	Enhancers	Stomach Smooth Muscle	stomach
12	chr1:222217800-222220400	Weak transcription	Fetal Brain Male	brain
13	chr1:222217800-222220600	Weak transcription	Brain Angular Gyrus	brain
14	chr1:222218000-222219000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr1:222218000-222219000	Weak transcription	Fetal Stomach	stomach
16	chr1:222218000-222219400	Enhancers	Rectal Smooth Muscle	rectum
17	chr1:222218000-222220400	Weak transcription	Brain Hippocampus Middle	brain
18	chr1:222218000-222220600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:222218000-222220600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr1:222218000-222220600	Weak transcription	Brain Substantia Nigra	brain
21	chr1:222218000-222220600	Weak transcription	HMEC	breast
22	chr1:222218000-222221200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:222218000-222221200	Weak transcription	NHLF	lung
24	chr1:222218000-222221400	Weak transcription	NH-A	brain
25	chr1:222218000-222221600	Weak transcription	Brain Germinal Matrix	brain
26	chr1:222218000-222222200	Weak transcription	Colon Smooth Muscle	Colon
27	chr1:222218000-222227800	Weak transcription	Brain Anterior Caudate	brain
28	chr1:222218200-222220600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:222218200-222220600	Weak transcription	NHDF-Ad	bronchial
30	chr1:222218200-222221200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:222218200-222221200	Weak transcription	Osteobl	bone
32	chr1:222218200-222221400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:222218400-222218800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:222218600-222219400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:222218600-222219400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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