Variant report

Variant	rs73278298
Chromosome Location	chr12:42416873-42416874
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:42416637..42419148-chr12:42718725..42720773,2	K562	blood:

Variant related genes	Relation type
ENSG00000139168	Chromatin interaction
ENSG00000134283	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1234113	1.00[AMR][1000 genomes]
rs1683193	1.00[AMR][1000 genomes]
rs2639125	0.85[AMR][1000 genomes]
rs56669009	1.00[AMR][1000 genomes]
rs56856898	0.85[AMR][1000 genomes]
rs56945323	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57582332	1.00[AMR][1000 genomes]
rs58108857	0.85[AMR][1000 genomes]
rs58417163	1.00[AMR][1000 genomes]
rs59451068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59477321	0.85[AMR][1000 genomes]
rs60327465	1.00[AMR][1000 genomes]
rs60655395	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs712113	1.00[AMR][1000 genomes]
rs712117	1.00[AMR][1000 genomes]
rs712121	1.00[AMR][1000 genomes]
rs712128	1.00[AMR][1000 genomes]
rs7132315	1.00[AMR][1000 genomes]
rs7133783	1.00[AMR][1000 genomes]
rs7298660	1.00[AMR][1000 genomes]
rs73278268	1.00[AMR][1000 genomes]
rs73278270	0.85[AMR][1000 genomes]
rs73278272	1.00[AMR][1000 genomes]
rs73278295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280038	0.85[AMR][1000 genomes]
rs73280040	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280047	1.00[AMR][1000 genomes]
rs73280057	0.85[AMR][1000 genomes]
rs73280063	1.00[AMR][1000 genomes]
rs73280071	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280079	1.00[AMR][1000 genomes]
rs73280085	1.00[AMR][1000 genomes]
rs73280087	1.00[AMR][1000 genomes]
rs73280101	1.00[AMR][1000 genomes]
rs73281848	1.00[AMR][1000 genomes]
rs73281857	1.00[AMR][1000 genomes]
rs73281868	1.00[AMR][1000 genomes]
rs7954844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7960285	1.00[AMR][1000 genomes]
rs850828	1.00[AMR][1000 genomes]
rs864291	1.00[AMR][1000 genomes]
rs864298	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv832387	chr12:42345541-42465505	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr12:42402800-42417000	Weak transcription	Right Atrium	heart
2	chr12:42409200-42417400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:42411400-42417800	Weak transcription	GM12878-XiMat	blood
4	chr12:42414400-42417600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:42414400-42417800	Enhancers	HUVEC	blood vessel
6	chr12:42414600-42417600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:42414600-42418000	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr12:42415200-42417000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:42415200-42417600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:42415200-42417600	Weak transcription	Left Ventricle	heart
11	chr12:42415400-42417000	Weak transcription	Fetal Muscle Leg	muscle
12	chr12:42415400-42417800	Weak transcription	Adipose Nuclei	Adipose
13	chr12:42416200-42417600	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr12:42416200-42417800	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr12:42416200-42417800	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr12:42416200-42417800	Weak transcription	Fetal Brain Male	brain
17	chr12:42416400-42417400	Enhancers	Brain Germinal Matrix	brain
18	chr12:42416600-42417200	Enhancers	Spleen	Spleen
19	chr12:42416800-42417200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr12:42416800-42417800	Enhancers	Brain Substantia Nigra	brain

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