Variant report

Variant	rs73981806
Chromosome Location	chr17:19993744-19993745
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:19969588..19972096-chr17:19993265..19995045,2	K562	blood:
2	chr17:19980057..19981963-chr17:19993152..19995446,2	K562	blood:
3	chr17:19991773..19994998-chr2:209032034..209035004,3	K562	blood:
4	chr17:19993292..19995156-chr17:20055465..20057406,2	MCF-7	breast:
5	chr17:19991747..19994521-chr2:209032147..209035018,4	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs57127528	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58334454	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58338147	1.00[AMR][1000 genomes]
rs58748150	1.00[AMR][1000 genomes]
rs60321315	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60740483	1.00[AMR][1000 genomes]
rs7215558	1.00[AMR][1000 genomes]
rs7225930	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73980789	1.00[AMR][1000 genomes]
rs73980790	1.00[AMR][1000 genomes]
rs73980791	1.00[AMR][1000 genomes]
rs73980793	1.00[AMR][1000 genomes]
rs73980794	1.00[AMR][1000 genomes]
rs73980795	1.00[AMR][1000 genomes]
rs73980797	1.00[AMR][1000 genomes]
rs73981808	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73981810	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73984562	1.00[AMR][1000 genomes]
rs73984563	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8066256	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv907868	chr17:19768924-20217122	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv833394	chr17:19827714-19999577	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1060337	chr17:19828636-20204872	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv543257	chr17:19828636-20204872	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv907870	chr17:19871922-20001612	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv907871	chr17:19927699-20088492	Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv482438	chr17:19934376-20089005	Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv907872	chr17:19945841-19996140	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv833395	chr17:19969959-20124084	Genic enhancers Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	esv2762522	chr17:19976462-19996429	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19978800-20000000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr17:19980600-19994600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr17:19987000-19994600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr17:19988600-19994600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr17:19988800-19994600	Weak transcription	Right Atrium	heart
6	chr17:19989000-19994600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr17:19989200-19994200	Weak transcription	Osteobl	bone
8	chr17:19989400-19994200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr17:19989600-19994000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr17:19990000-19995600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr17:19990200-19994000	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr17:19990200-19994000	Weak transcription	Ovary	ovary
13	chr17:19990200-19994000	Weak transcription	Right Ventricle	heart
14	chr17:19990200-19994000	Weak transcription	NH-A	brain
15	chr17:19990200-19994600	Weak transcription	Brain Anterior Caudate	brain
16	chr17:19990200-19994600	Weak transcription	Brain Hippocampus Middle	brain
17	chr17:19990200-19994600	Weak transcription	Brain Substantia Nigra	brain
18	chr17:19990200-19994800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr17:19990200-19995000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr17:19990200-19998800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr17:19990400-19994600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr17:19990400-19994600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr17:19990600-19994000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr17:19990600-19995000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr17:19991200-19994800	Weak transcription	Brain Angular Gyrus	brain
26	chr17:19991200-19995000	Weak transcription	A549	lung
27	chr17:19991200-19996800	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr17:19991400-19994000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr17:19992600-19994000	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr17:19992600-19995400	Weak transcription	Aorta	Aorta
31	chr17:19993000-19993800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr17:19993000-19993800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr17:19993000-19993800	Enhancers	Left Ventricle	heart
34	chr17:19993000-19996800	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr17:19993200-19994000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr17:19993200-19994000	Enhancers	Fetal Muscle Trunk	muscle
37	chr17:19993200-19994800	Enhancers	Adipose Nuclei	Adipose
38	chr17:19993200-19996600	Enhancers	Fetal Muscle Leg	muscle
39	chr17:19993400-19993800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr17:19993400-19993800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr17:19993400-19993800	Enhancers	Esophagus	oesophagus
42	chr17:19993400-19993800	Enhancers	Lung	lung
43	chr17:19993400-19993800	Enhancers	Spleen	Spleen
44	chr17:19993400-19993800	Flanking Active TSS	GM12878-XiMat	blood
45	chr17:19993400-20006400	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr17:19993600-19996000	Enhancers	NHDF-Ad	bronchial
47	chr17:19993600-19998600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr17:19993600-20000000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr17:19993600-20003600	Weak transcription	Primary neutrophils fromperipheralblood	blood

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