Variant report

Variant	rs61823902
Chromosome Location	chr1:222164130-222164131
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:222163800..222166412-chr1:222168403..222170793,3	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12117316	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12120736	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12122410	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12126368	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12129517	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12136244	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12137305	0.87[EUR][1000 genomes]
rs12137800	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12140406	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1339869	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17011253	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2153352	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2185327	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2378497	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2378498	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2790762	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2800859	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2800860	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2970199	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3121626	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5013041	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55756813	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56054113	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56236427	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61823896	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61823903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61823905	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs996854	0.96[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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222156600-222166000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:222159600-222169400	Enhancers	HMEC	breast
3	chr1:222160400-222165400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:222160400-222165800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr1:222161000-222165200	Enhancers	NHLF	lung
6	chr1:222161000-222165400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:222161600-222164400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:222161600-222167000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr1:222161800-222164200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:222162000-222164400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:222162000-222164400	Weak transcription	NH-A	brain
12	chr1:222162000-222167600	Weak transcription	Brain Substantia Nigra	brain
13	chr1:222162200-222165600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:222162600-222166200	Enhancers	Osteobl	bone
15	chr1:222162800-222165000	Enhancers	Stomach Smooth Muscle	stomach
16	chr1:222162800-222166000	Enhancers	HSMM	muscle
17	chr1:222163000-222165400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:222163000-222165600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:222163200-222165800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:222163200-222165800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:222163400-222165000	Enhancers	NHDF-Ad	bronchial
22	chr1:222163400-222165600	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr1:222163400-222165600	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr1:222163600-222169800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:222163800-222164200	Weak transcription	GM12878-XiMat	blood
26	chr1:222163800-222164200	Weak transcription	Hela-S3	cervix
27	chr1:222163800-222164600	Flanking Active TSS	HSMMtube	muscle
28	chr1:222163800-222164800	Enhancers	K562	blood
29	chr1:222163800-222165000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr1:222163800-222165200	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr1:222163800-222165200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:222163800-222165400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:222163800-222165400	Enhancers	NHEK	skin
34	chr1:222163800-222165600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr1:222164000-222164800	Weak transcription	Aorta	Aorta

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