Variant report

Variant	rs12137305
Chromosome Location	chr1:222220701-222220702
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: 42 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11118930	0.96[ASN][1000 genomes]
rs11118931	0.98[ASN][1000 genomes]
rs12031848	0.91[ASN][1000 genomes]
rs12117316	0.88[EUR][1000 genomes]
rs12122410	0.92[EUR][1000 genomes]
rs12126368	0.88[EUR][1000 genomes]
rs12129517	0.87[EUR][1000 genomes]
rs12136244	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs12137800	0.88[EUR][1000 genomes]
rs12140406	0.87[EUR][1000 genomes]
rs1339869	0.88[EUR][1000 genomes]
rs17011253	0.83[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs2053510	0.97[ASN][1000 genomes]
rs2053511	0.97[ASN][1000 genomes]
rs2053512	0.95[ASN][1000 genomes]
rs2153352	0.87[EUR][1000 genomes]
rs2185327	0.85[EUR][1000 genomes]
rs2378497	0.88[EUR][1000 genomes]
rs2378498	0.86[EUR][1000 genomes]
rs2584315	0.95[ASN][1000 genomes]
rs2584316	0.95[ASN][1000 genomes]
rs2584329	0.96[ASN][1000 genomes]
rs2790746	0.97[ASN][1000 genomes]
rs2790747	0.97[ASN][1000 genomes]
rs2790762	0.88[EUR][1000 genomes]
rs2800859	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2800860	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2800865	0.95[ASN][1000 genomes]
rs2970199	0.87[EUR][1000 genomes]
rs3121626	1.00[CEU][hapmap];0.85[YRI][hapmap];0.88[EUR][1000 genomes]
rs5013041	0.87[EUR][1000 genomes]
rs55756813	0.88[EUR][1000 genomes]
rs56054113	0.87[EUR][1000 genomes]
rs56236427	0.87[EUR][1000 genomes]
rs61823896	0.86[EUR][1000 genomes]
rs61823902	0.87[EUR][1000 genomes]
rs61823903	0.87[EUR][1000 genomes]
rs61823905	0.88[EUR][1000 genomes]
rs61823931	0.98[ASN][1000 genomes]
rs6604697	0.96[ASN][1000 genomes]
rs996854	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12137305	TP53BP2	cis	parietal	SCAN
rs12137305	GPATCH2	cis	parietal	SCAN
rs12137305	IARS2	cis	cerebellum	SCAN

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222217000-222222400	Weak transcription	Right Ventricle	heart
2	chr1:222217200-222221600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr1:222217400-222221400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr1:222217400-222223800	Weak transcription	Aorta	Aorta
5	chr1:222218000-222221200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:222218000-222221200	Weak transcription	NHLF	lung
7	chr1:222218000-222221400	Weak transcription	NH-A	brain
8	chr1:222218000-222221600	Weak transcription	Brain Germinal Matrix	brain
9	chr1:222218000-222222200	Weak transcription	Colon Smooth Muscle	Colon
10	chr1:222218000-222227800	Weak transcription	Brain Anterior Caudate	brain
11	chr1:222218200-222221200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:222218200-222221200	Weak transcription	Osteobl	bone
13	chr1:222218200-222221400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:222218800-222223000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:222219000-222222200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr1:222219400-222220800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:222219400-222220800	Weak transcription	Fetal Stomach	stomach
18	chr1:222219400-222220800	Weak transcription	HSMMtube	muscle
19	chr1:222219400-222221400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:222219400-222221400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr1:222219600-222220800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr1:222219600-222222400	Weak transcription	Fetal Heart	heart
23	chr1:222220000-222222800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:222220200-222220800	Enhancers	Rectal Smooth Muscle	rectum
25	chr1:222220200-222222400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr1:222220200-222222800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:222220400-222222200	Enhancers	Brain Hippocampus Middle	brain
28	chr1:222220400-222222600	Enhancers	Fetal Brain Male	brain
29	chr1:222220600-222220800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:222220600-222220800	Enhancers	Brain Angular Gyrus	brain
31	chr1:222220600-222221400	Enhancers	Brain Substantia Nigra	brain
32	chr1:222220600-222221600	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr1:222220600-222222800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:222220600-222222800	Enhancers	HMEC	breast
35	chr1:222220600-222222800	Enhancers	HSMM	muscle
36	chr1:222220600-222222800	Enhancers	NHDF-Ad	bronchial
37	chr1:222220600-222223200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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