Variant report

Variant	rs58338969
Chromosome Location	chr1:150942007-150942008
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:150941922-150942033	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr1:150941769-150942114	HepG2	liver:	n/a	n/a
3	POLR2A	chr1:150942000-150942019	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
CERS2	TF binding region
ENSG00000231073	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10157132	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12090632	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12097548	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16832391	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16832604	0.87[AFR][1000 genomes]
rs3768010	1.00[ASN][1000 genomes]
rs55884154	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56341880	0.89[AMR][1000 genomes]
rs57376891	1.00[AMR][1000 genomes]
rs57378704	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57734108	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs57746902	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59687612	0.87[AMR][1000 genomes]
rs59703669	1.00[AMR][1000 genomes]
rs60676022	0.87[AMR][1000 genomes]
rs6672625	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6674452	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6703303	1.00[AMR][1000 genomes]
rs74127060	1.00[AMR][1000 genomes]
rs74127063	1.00[AMR][1000 genomes]
rs74127089	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74127091	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74127092	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74128604	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74128609	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7522741	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7547614	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9988459	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9988521	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv1008496	chr1:150845827-150970656	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	nsv522317	chr1:150933723-150974162	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
5	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150899600-150943400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:150900400-150942600	Weak transcription	Stomach Mucosa	stomach
3	chr1:150900400-150944200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:150903600-150942200	Strong transcription	Dnd41	blood
5	chr1:150903600-150942800	Strong transcription	Fetal Stomach	stomach
6	chr1:150903600-150943000	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr1:150903600-150943200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr1:150903800-150942600	Strong transcription	Fetal Thymus	thymus
9	chr1:150904600-150942200	Strong transcription	Duodenum Mucosa	Duodenum
10	chr1:150904600-150942400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr1:150904600-150942400	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr1:150904600-150943400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:150905000-150942400	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr1:150905000-150943000	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:150905400-150942800	Strong transcription	Fetal Muscle Leg	muscle
16	chr1:150906200-150942400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:150907000-150942200	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr1:150907000-150942400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr1:150927000-150942400	Strong transcription	Primary B cells from cord blood	blood
20	chr1:150929400-150942200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
21	chr1:150929400-150942400	Strong transcription	Brain Germinal Matrix	brain
22	chr1:150931400-150943000	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:150931600-150942200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr1:150931600-150942200	Strong transcription	NHLF	lung
25	chr1:150932000-150943000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr1:150932000-150943400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:150932800-150942200	Strong transcription	NHEK	skin
28	chr1:150934600-150942800	Strong transcription	K562	blood
29	chr1:150937000-150942200	Strong transcription	Spleen	Spleen
30	chr1:150937400-150942200	Strong transcription	Placenta	Placenta
31	chr1:150938200-150943200	Genic enhancers	Brain Anterior Caudate	brain
32	chr1:150940200-150942800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr1:150940200-150943000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr1:150940200-150944600	Weak transcription	Fetal Brain Male	brain
35	chr1:150940400-150943200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr1:150940400-150945200	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr1:150940600-150942400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr1:150940800-150942400	Genic enhancers	Fetal Intestine Large	intestine
39	chr1:150940800-150942600	Genic enhancers	HepG2	liver
40	chr1:150940800-150945200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr1:150941000-150942200	Weak transcription	Right Atrium	heart
42	chr1:150941000-150943400	Genic enhancers	Fetal Intestine Small	intestine
43	chr1:150941000-150943400	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr1:150941000-150943400	Weak transcription	NH-A	brain
45	chr1:150941000-150943600	Enhancers	Brain Angular Gyrus	brain
46	chr1:150941000-150944000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr1:150941200-150942200	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr1:150941200-150942200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr1:150941400-150942800	Weak transcription	GM12878-XiMat	blood
50	chr1:150941400-150943400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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