Variant report

Variant	rs72993486
Chromosome Location	chr1:155452285-155452286
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:155450471..155453866-chr1:155462704..155465865,4	K562	blood:
2	chr1:155450869..155453534-chr1:155488827..155491305,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10158037	0.87[AFR][1000 genomes]
rs10158433	0.86[AFR][1000 genomes]
rs13375379	0.96[AFR][1000 genomes]
rs16836851	0.88[AFR][1000 genomes]
rs16836867	0.86[AFR][1000 genomes]
rs16836868	0.85[AFR][1000 genomes]
rs28438500	0.85[AFR][1000 genomes]
rs28491466	0.85[AFR][1000 genomes]
rs28507559	0.90[AFR][1000 genomes]
rs56035547	0.93[AFR][1000 genomes]
rs56770523	0.91[AFR][1000 genomes]
rs57334798	0.82[AFR][1000 genomes]
rs57519519	0.93[AFR][1000 genomes]
rs57644936	0.83[AMR][1000 genomes]
rs57807227	0.93[AFR][1000 genomes]
rs58621120	0.93[AFR][1000 genomes]
rs58850753	0.91[AFR][1000 genomes]
rs59633238	0.93[AFR][1000 genomes]
rs59913551	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60219981	0.83[AMR][1000 genomes]
rs60568057	0.90[AFR][1000 genomes]
rs60818259	0.93[AFR][1000 genomes]
rs61403978	0.93[AFR][1000 genomes]
rs61631408	0.85[AFR][1000 genomes]
rs6427277	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6658401	0.90[AFR][1000 genomes]
rs6659913	0.86[AFR][1000 genomes]
rs6665660	0.90[AFR][1000 genomes]
rs6665939	0.87[AFR][1000 genomes]
rs6669216	0.90[AFR][1000 genomes]
rs6670530	0.81[AFR][1000 genomes]
rs6692952	0.90[AFR][1000 genomes]
rs72993428	0.93[AFR][1000 genomes]
rs72995115	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72995140	0.90[AFR][1000 genomes]
rs72995165	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72995166	0.89[AFR][1000 genomes]
rs72995171	0.83[AFR][1000 genomes]
rs72995173	0.89[AFR][1000 genomes]
rs72995177	0.85[AFR][1000 genomes]
rs73008931	0.80[AFR][1000 genomes]
rs73008968	0.86[AFR][1000 genomes]
rs73008999	0.93[AFR][1000 genomes]
rs73010906	0.95[AFR][1000 genomes]
rs73010909	0.95[AFR][1000 genomes]
rs73010921	0.91[AFR][1000 genomes]
rs7517139	0.88[AFR][1000 genomes]
rs7517777	0.91[AFR][1000 genomes]
rs7532714	0.85[AFR][1000 genomes]
rs9988453	0.85[AFR][1000 genomes]
rs9988540	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
2	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	esv1799856	chr1:155305059-155534616	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv1795662	chr1:155305059-155540660	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	esv1795478	chr1:155334933-155510824	Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv1803551	chr1:155334933-155522572	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	esv1800974	chr1:155367680-155510824	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv872468	chr1:155413304-155549562	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155424600-155462600	Weak transcription	Pancreas	Pancrea
2	chr1:155426400-155455800	Weak transcription	Stomach Mucosa	stomach
3	chr1:155441400-155463600	Weak transcription	Fetal Heart	heart
4	chr1:155441600-155460200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:155441600-155460400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:155442200-155457200	Weak transcription	Esophagus	oesophagus
7	chr1:155442200-155469800	Weak transcription	Small Intestine	intestine
8	chr1:155443200-155456000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr1:155443200-155470400	Weak transcription	Right Ventricle	heart
10	chr1:155445200-155454000	Weak transcription	Fetal Intestine Small	intestine
11	chr1:155445400-155452600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:155445400-155452800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:155446600-155452400	Strong transcription	HSMM	muscle
14	chr1:155446600-155452400	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr1:155446800-155452800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:155447000-155452400	Strong transcription	GM12878-XiMat	blood
17	chr1:155447200-155460000	Weak transcription	Colonic Mucosa	Colon
18	chr1:155447400-155452400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr1:155447600-155452400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:155447600-155452400	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr1:155447600-155452400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:155447600-155452400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:155447600-155452400	Strong transcription	Placenta	Placenta
24	chr1:155447600-155452400	Strong transcription	Fetal Thymus	thymus
25	chr1:155447600-155453400	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr1:155447600-155453400	Strong transcription	Dnd41	blood
27	chr1:155447800-155452400	Strong transcription	Primary B cells from cord blood	blood
28	chr1:155447800-155452400	Strong transcription	Primary hematopoietic stem cells	blood
29	chr1:155447800-155452400	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr1:155448200-155452400	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr1:155448400-155452400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:155448600-155453600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr1:155448600-155456000	Weak transcription	Aorta	Aorta
34	chr1:155449000-155452400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
35	chr1:155449000-155452400	Strong transcription	Fetal Kidney	kidney
36	chr1:155449000-155469400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr1:155449400-155452400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:155449600-155452400	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr1:155449600-155452400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:155449600-155452400	Strong transcription	Primary B cells from peripheral blood	blood
41	chr1:155449800-155452400	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr1:155450000-155452400	Strong transcription	A549	lung
43	chr1:155450000-155483000	Weak transcription	NHLF	lung
44	chr1:155450200-155452800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:155450200-155456000	Weak transcription	Brain Substantia Nigra	brain
46	chr1:155450400-155452400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr1:155450800-155452400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr1:155450800-155452400	Strong transcription	HMEC	breast
49	chr1:155451000-155453000	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr1:155451400-155452400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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