Variant report

Variant	rs60470389
Chromosome Location	chr4:48186824-48186825
allele	-/AT/CACACACACA
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48182506..48184913-chr4:48185487..48187835,2	K562	blood:
2	chr4:48184426..48187348-chr4:48194025..48197135,3	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1396049	0.83[AMR][1000 genomes]
rs16860943	1.00[AMR][1000 genomes]
rs16861067	1.00[AMR][1000 genomes]
rs1979972	1.00[AMR][1000 genomes]
rs2089508	1.00[AMR][1000 genomes]
rs2135957	0.83[AMR][1000 genomes]
rs2251240	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2352590	0.83[AMR][1000 genomes]
rs2352591	0.83[AMR][1000 genomes]
rs2456926	0.83[AMR][1000 genomes]
rs2464500	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2464501	0.83[AMR][1000 genomes]
rs2464506	0.83[AMR][1000 genomes]
rs2661526	1.00[AMR][1000 genomes]
rs2661527	1.00[AMR][1000 genomes]
rs2661531	1.00[AMR][1000 genomes]
rs2661534	1.00[AMR][1000 genomes]
rs2704397	1.00[AMR][1000 genomes]
rs2704398	1.00[AMR][1000 genomes]
rs2704427	1.00[AMR][1000 genomes]
rs2704428	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2704429	1.00[AMR][1000 genomes]
rs2704432	1.00[AMR][1000 genomes]
rs2940329	1.00[AMR][1000 genomes]
rs34386002	1.00[AMR][1000 genomes]
rs3857073	0.83[AMR][1000 genomes]
rs4695333	0.83[AMR][1000 genomes]
rs6858033	0.83[AMR][1000 genomes]
rs7692882	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv482316	chr4:48151953-48338746	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv1006853	chr4:48164958-48196335	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48158400-48190000	Weak transcription	Aorta	Aorta
2	chr4:48169000-48190000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr4:48173800-48188400	Weak transcription	Lung	lung
4	chr4:48175800-48191600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:48178000-48192400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr4:48180800-48187800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:48183200-48194800	Weak transcription	Fetal Thymus	thymus
8	chr4:48184600-48189400	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr4:48185000-48189600	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr4:48185600-48189600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr4:48185600-48189600	Weak transcription	K562	blood
12	chr4:48185600-48192400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr4:48185800-48189800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:48185800-48197000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr4:48186000-48189400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:48186000-48189600	Weak transcription	Fetal Heart	heart
17	chr4:48186000-48189600	Weak transcription	GM12878-XiMat	blood
18	chr4:48186000-48194800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr4:48186400-48187400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:48186600-48187000	Enhancers	HSMM	muscle

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