Variant report

Variant	rs59687612
Chromosome Location	chr1:150941798-150941799
allele	G/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	chr1:150940592-150941821	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr1:150941769-150942114	HepG2	liver:	n/a	n/a
3	GATA3	chr1:150941500-150941822	T-47D	breast:	n/a	n/a

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

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

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10157132	0.87[AMR][1000 genomes]
rs12090632	0.87[AMR][1000 genomes]
rs12097548	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16832391	0.87[AMR][1000 genomes]
rs55884154	0.87[AMR][1000 genomes]
rs57376891	0.87[AMR][1000 genomes]
rs57378704	0.87[AMR][1000 genomes]
rs57734108	0.82[AFR][1000 genomes]
rs57746902	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs58338969	0.87[AMR][1000 genomes]
rs59703669	0.87[AMR][1000 genomes]
rs60676022	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6672625	0.87[AMR][1000 genomes]
rs6674452	0.87[AMR][1000 genomes]
rs6703303	0.87[AMR][1000 genomes]
rs74127060	0.87[AMR][1000 genomes]
rs74127063	0.87[AMR][1000 genomes]
rs74127089	0.87[AMR][1000 genomes]
rs74127091	0.87[AMR][1000 genomes]
rs74127092	0.87[AMR][1000 genomes]
rs74128604	0.87[AMR][1000 genomes]
rs74128609	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7522741	0.87[AMR][1000 genomes]
rs7547614	0.87[AMR][1000 genomes]
rs9988459	0.87[AMR][1000 genomes]
rs9988521	0.87[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	chr1:150900200-150941800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
3	chr1:150900400-150942600	Weak transcription	Stomach Mucosa	stomach
4	chr1:150900400-150944200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:150903600-150942200	Strong transcription	Dnd41	blood
6	chr1:150903600-150942800	Strong transcription	Fetal Stomach	stomach
7	chr1:150903600-150943000	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr1:150903600-150943200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr1:150903800-150942600	Strong transcription	Fetal Thymus	thymus
10	chr1:150904600-150942200	Strong transcription	Duodenum Mucosa	Duodenum
11	chr1:150904600-150942400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:150904600-150942400	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr1:150904600-150943400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:150904800-150941800	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr1:150904800-150941800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:150905000-150941800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:150905000-150942000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr1:150905000-150942400	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr1:150905000-150943000	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr1:150905400-150942800	Strong transcription	Fetal Muscle Leg	muscle
21	chr1:150905600-150942000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:150906200-150942400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:150907000-150941800	Strong transcription	Fetal Brain Female	brain
24	chr1:150907000-150942200	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr1:150907000-150942400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr1:150908400-150941800	Strong transcription	Fetal Muscle Trunk	muscle
27	chr1:150908600-150941800	Strong transcription	Primary B cells from peripheral blood	blood
28	chr1:150909400-150941800	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr1:150909600-150941800	Strong transcription	Stomach Smooth Muscle	stomach
30	chr1:150927000-150942400	Strong transcription	Primary B cells from cord blood	blood
31	chr1:150927400-150941800	Strong transcription	Thymus	Thymus
32	chr1:150929400-150941800	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr1:150929400-150942200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
34	chr1:150929400-150942400	Strong transcription	Brain Germinal Matrix	brain
35	chr1:150929600-150942000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:150930000-150941800	Strong transcription	Fetal Lung	lung
37	chr1:150930800-150941800	Strong transcription	Osteobl	bone
38	chr1:150931200-150941800	Strong transcription	Colon Smooth Muscle	Colon
39	chr1:150931200-150941800	Strong transcription	NHDF-Ad	bronchial
40	chr1:150931400-150941800	Strong transcription	Left Ventricle	heart
41	chr1:150931400-150941800	Strong transcription	A549	lung
42	chr1:150931400-150943000	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr1:150931600-150941800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr1:150931600-150941800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
45	chr1:150931600-150941800	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr1:150931600-150942200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr1:150931600-150942200	Strong transcription	NHLF	lung
48	chr1:150932000-150943000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr1:150932000-150943400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:150932800-150942200	Strong transcription	NHEK	skin

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