Variant report

Variant	rs73725249
Chromosome Location	chr6:16840512-16840513
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:16831439..16834686-chr6:16840301..16843273,3	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10214621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10214623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10214624	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10214782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6934167	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73725253	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73725267	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9464946	0.96[AFR][1000 genomes]
rs9464947	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9464949	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9464954	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9477231	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9477236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9477240	0.86[AFR][1000 genomes];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	nsv1015992	chr6:16469059-16846847	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv538148	chr6:16469059-16846847	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:16837200-16840800	Weak transcription	NH-A	brain
2	chr6:16837200-16841200	Enhancers	Fetal Heart	heart
3	chr6:16837400-16841000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr6:16837400-16849000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr6:16837600-16840600	Weak transcription	Brain Angular Gyrus	brain
6	chr6:16837800-16849600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:16838400-16841000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr6:16838400-16841000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr6:16838600-16840600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:16838600-16840800	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr6:16838600-16843400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:16838600-16849600	Weak transcription	Fetal Muscle Leg	muscle
13	chr6:16838800-16840800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr6:16838800-16849600	Weak transcription	Brain Germinal Matrix	brain
15	chr6:16839000-16841200	Weak transcription	Fetal Brain Female	brain
16	chr6:16839600-16841800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr6:16839800-16840800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr6:16839800-16842000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr6:16840000-16840800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:16840000-16840800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr6:16840000-16841800	Enhancers	Fetal Brain Male	brain
22	chr6:16840000-16843600	Enhancers	Placenta Amnion	Placenta Amnion
23	chr6:16840200-16840600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr6:16840200-16840800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:16840200-16841200	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr6:16840200-16841200	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr6:16840200-16841600	Enhancers	Primary hematopoietic stem cells	blood
28	chr6:16840200-16842200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr6:16840200-16842400	Enhancers	NHEK	skin
30	chr6:16840400-16840800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:16840400-16840800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr6:16840400-16841000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr6:16840400-16841000	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr6:16840400-16841200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr6:16840400-16841200	Flanking Active TSS	GM12878-XiMat	blood
36	chr6:16840400-16841600	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr6:16840400-16841600	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr6:16840400-16842000	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr6:16840400-16842600	Enhancers	Fetal Lung	lung

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