Variant report

Variant	rs12622222
Chromosome Location	chr2:180103575-180103576
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:180099965..180101717-chr2:180103234..180105570,2	K562	blood:
2	chr2:180099014..180101971-chr2:180103448..180105283,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs17363057	1.00[AFR][1000 genomes]
rs17454087	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17454199	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17454527	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62175447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62175448	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62175449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62175450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62177277	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62177280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62177281	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62177283	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62177285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62177287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62177289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62177291	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62177326	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62177327	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62177328	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62177330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62177332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62177335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62177336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62177337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62177338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62177339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62179066	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62179067	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62179068	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62179069	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1004693	chr2:179933683-180265288	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers 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	12 gene(s)	inside rSNPs	diseases
3	nsv834471	chr2:179974303-180123027	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv834472	chr2:180091670-180220448	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180067600-180104600	Weak transcription	Fetal Kidney	kidney
2	chr2:180068000-180103800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:180089600-180115200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:180091200-180104600	Weak transcription	Right Ventricle	heart
5	chr2:180091800-180127200	Weak transcription	Fetal Lung	lung
6	chr2:180092800-180104600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:180092800-180112400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:180093000-180107800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:180095200-180104000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:180097200-180103600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:180098000-180105200	Weak transcription	Fetal Thymus	thymus
12	chr2:180098600-180118600	Weak transcription	Pancreas	Pancrea
13	chr2:180099000-180103800	Weak transcription	Primary B cells from cord blood	blood
14	chr2:180100000-180103600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr2:180100400-180104000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr2:180100400-180104200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr2:180100600-180103800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:180100600-180104000	Weak transcription	Primary B cells from peripheral blood	blood
19	chr2:180100800-180104000	Weak transcription	NH-A	brain
20	chr2:180100800-180104400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:180100800-180104800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:180100800-180105000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:180100800-180105200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:180101200-180105200	Weak transcription	Aorta	Aorta
25	chr2:180101200-180112200	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr2:180101800-180105000	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr2:180101800-180105600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:180101800-180107000	Enhancers	Brain Substantia Nigra	brain
29	chr2:180102000-180103800	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr2:180102000-180104200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:180102000-180104200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:180102000-180105000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:180102000-180105200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:180102000-180105400	Enhancers	Adipose Nuclei	Adipose
35	chr2:180102000-180105800	Enhancers	Brain Cingulate Gyrus	brain
36	chr2:180102200-180103600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr2:180102200-180103800	Enhancers	Fetal Heart	heart
38	chr2:180102200-180104400	Enhancers	NHDF-Ad	bronchial
39	chr2:180102200-180104600	Enhancers	Muscle Satellite Cultured Cells	--
40	chr2:180102200-180105000	Enhancers	HMEC	breast
41	chr2:180102200-180105800	Enhancers	HUVEC	blood vessel
42	chr2:180102400-180103600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr2:180102400-180103600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr2:180102400-180103800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr2:180102400-180104000	Weak transcription	HSMM	muscle
46	chr2:180102400-180105600	Enhancers	Colon Smooth Muscle	Colon
47	chr2:180102400-180106200	Enhancers	Brain Hippocampus Middle	brain
48	chr2:180102600-180103600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr2:180102600-180103600	Weak transcription	Brain Anterior Caudate	brain
50	chr2:180102600-180104600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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