Variant report

Variant	rs1000232
Chromosome Location	chr17:45356561-45356562
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45349283..45353321-chr17:45355036..45358362,4	K562	blood:
2	chr17:45329741..45331334-chr17:45355703..45358331,2	K562	blood:
3	chr17:45342339..45344820-chr17:45354708..45356639,2	K562	blood:
4	chr17:45352188..45358928-chr17:45361878..45368448,10	K562	blood:

Variant related genes	Relation type
ENSG00000259207	Chromatin interaction
ENSG00000259753	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11650072	0.80[YRI][hapmap]
rs11656809	0.81[EUR][1000 genomes]
rs12949936	0.81[EUR][1000 genomes]
rs15908	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs16941801	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2015729	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2292699	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2292863	0.82[EUR][1000 genomes]
rs2292865	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs3851807	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4634	0.81[EUR][1000 genomes]
rs4642	0.81[EUR][1000 genomes]
rs56327427	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6504833	0.80[YRI][hapmap]
rs7209700	0.95[CEU][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7212751	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7214468	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7217710	0.95[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7218632	0.99[ASN][1000 genomes]
rs8073827	0.90[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8074348	0.96[AFR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8077753	0.84[EUR][1000 genomes]
rs999323	0.95[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[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	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45350600-45359400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr17:45351200-45357800	Enhancers	Ovary	ovary
3	chr17:45351600-45357600	Enhancers	Fetal Stomach	stomach
4	chr17:45351600-45359000	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr17:45351800-45358200	Enhancers	Lung	lung
6	chr17:45351800-45359200	Enhancers	Primary B cells from peripheral blood	blood
7	chr17:45352000-45358800	Enhancers	NHLF	lung
8	chr17:45352200-45358400	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr17:45352400-45359200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr17:45353000-45358200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr17:45353200-45356600	Enhancers	Duodenum Mucosa	Duodenum
12	chr17:45353400-45356600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr17:45353400-45356600	Enhancers	Small Intestine	intestine
14	chr17:45353400-45358200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr17:45353800-45357200	Enhancers	Colon Smooth Muscle	Colon
16	chr17:45354200-45358000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr17:45354400-45356600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr17:45354400-45357000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr17:45354600-45356600	Weak transcription	Fetal Thymus	thymus
20	chr17:45354600-45356800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr17:45354600-45357600	Enhancers	Primary B cells from cord blood	blood
22	chr17:45354600-45358000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr17:45354600-45359000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr17:45354600-45372000	Weak transcription	Esophagus	oesophagus
25	chr17:45354800-45356800	Weak transcription	Brain Anterior Caudate	brain
26	chr17:45354800-45357800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr17:45355000-45356600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr17:45355000-45357000	Weak transcription	Aorta	Aorta
29	chr17:45355400-45357200	Enhancers	Psoas Muscle	Psoas
30	chr17:45355600-45356600	Enhancers	Colonic Mucosa	Colon
31	chr17:45355600-45358000	Enhancers	Fetal Muscle Trunk	muscle
32	chr17:45355600-45358400	Enhancers	Left Ventricle	heart
33	chr17:45355600-45359200	Enhancers	Placenta	Placenta
34	chr17:45355800-45357000	Enhancers	NH-A	brain
35	chr17:45355800-45357200	Enhancers	Right Ventricle	heart
36	chr17:45355800-45357800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr17:45355800-45358000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr17:45355800-45358400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr17:45355800-45358800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr17:45356000-45356800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr17:45356000-45356800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr17:45356000-45356800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr17:45356000-45356800	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr17:45356000-45356800	Flanking Active TSS	NHDF-Ad	bronchial
45	chr17:45356000-45357000	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr17:45356000-45357200	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr17:45356000-45357200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr17:45356000-45357200	Enhancers	Fetal Heart	heart
49	chr17:45356000-45357200	Enhancers	HUVEC	blood vessel
50	chr17:45356000-45357400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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