Variant report

Variant	rs74116261
Chromosome Location	chr1:154917246-154917247
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:154912745..154915347-chr1:154916897..154920361,4	MCF-7	breast:
2	chr1:154913036..154915894-chr1:154916436..154918587,2	K562	blood:
3	chr1:154915676..154917776-chr1:155030028..155032426,2	MCF-7	breast:
4	chr1:154908783..154912738-chr1:154912911..154918149,9	K562	blood:
5	chr1:154916244..154918003-chr1:154918672..154920315,2	MCF-7	breast:
6	chr1:154910460..154912318-chr1:154915233..154917355,3	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CKS1B-3	chr1:154916565-154917567	NONHSAT006646

No data

(count:1 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	PBXIP1	hsa-miR-148a-3p	chr1:154917246-154917268

Variant related genes	Relation type
ENSG00000270361	Chromatin interaction
ENSG00000143537	Chromatin interaction
ENSG00000163344	Chromatin interaction
PBXIP1	miRNA target site

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1395561	1.00[AMR][1000 genomes]
rs16836381	1.00[AMR][1000 genomes]
rs55699206	1.00[AMR][1000 genomes]
rs57393028	1.00[AMR][1000 genomes]
rs6657775	1.00[AMR][1000 genomes]
rs6681539	1.00[AMR][1000 genomes]
rs6682049	1.00[AMR][1000 genomes]
rs6699247	1.00[AMR][1000 genomes]
rs6703251	1.00[AMR][1000 genomes]
rs73005428	1.00[AMR][1000 genomes]
rs73005429	1.00[AMR][1000 genomes]
rs73005493	1.00[AMR][1000 genomes]
rs73005497	1.00[AMR][1000 genomes]
rs73007703	1.00[AMR][1000 genomes]
rs74115892	1.00[AMR][1000 genomes]
rs74116267	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	nsv427797	chr1:154559115-154933717	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv872453	chr1:154904840-154995503	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
4	nsv872454	chr1:154904840-155079477	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154910400-154920000	Weak transcription	Aorta	Aorta
2	chr1:154910400-154923000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:154910400-154925000	Weak transcription	Psoas Muscle	Psoas
4	chr1:154910600-154927200	Weak transcription	Fetal Kidney	kidney
5	chr1:154910800-154927200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr1:154910800-154927200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr1:154911000-154921400	Weak transcription	NHLF	lung
8	chr1:154911800-154927400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:154911800-154927400	Weak transcription	NHEK	skin
10	chr1:154912200-154917600	Enhancers	Adipose Nuclei	Adipose
11	chr1:154912600-154917600	Enhancers	Brain Substantia Nigra	brain
12	chr1:154912600-154917800	Enhancers	Fetal Lung	lung
13	chr1:154912600-154917800	Enhancers	K562	blood
14	chr1:154912600-154919200	Genic enhancers	Fetal Muscle Leg	muscle
15	chr1:154912800-154917800	Enhancers	Stomach Mucosa	stomach
16	chr1:154913000-154920000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr1:154913000-154927600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:154913200-154927400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:154913400-154917800	Enhancers	Fetal Intestine Large	intestine
20	chr1:154913400-154923000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr1:154913400-154925600	Weak transcription	Brain Germinal Matrix	brain
22	chr1:154913400-154927000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:154913600-154918000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:154913800-154917800	Enhancers	Placenta	Placenta
25	chr1:154913800-154918600	Enhancers	Liver	Liver
26	chr1:154914000-154927400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr1:154914200-154918200	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:154914200-154927400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr1:154914400-154917400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:154914400-154920000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr1:154914400-154923400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr1:154914800-154917800	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr1:154914800-154919000	Genic enhancers	Fetal Intestine Small	intestine
34	chr1:154914800-154919000	Genic enhancers	Fetal Muscle Trunk	muscle
35	chr1:154915000-154917400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr1:154915000-154918200	Genic enhancers	Fetal Thymus	thymus
37	chr1:154915000-154918400	Weak transcription	Pancreas	Pancrea
38	chr1:154915000-154918600	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr1:154915000-154920200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr1:154915000-154920400	Weak transcription	Brain Angular Gyrus	brain
41	chr1:154915200-154917400	Weak transcription	Left Ventricle	heart
42	chr1:154915200-154917600	Enhancers	Duodenum Mucosa	Duodenum
43	chr1:154915200-154917600	Weak transcription	Gastric	stomach
44	chr1:154915200-154918800	Weak transcription	HSMM	muscle
45	chr1:154915200-154927400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:154915400-154917600	Weak transcription	Fetal Brain Female	brain
47	chr1:154915400-154917800	Weak transcription	Ovary	ovary
48	chr1:154915400-154918000	Weak transcription	Esophagus	oesophagus
49	chr1:154916000-154919000	Genic enhancers	Primary T cells fromperipheralblood	blood
50	chr1:154916000-154920400	Genic enhancers	Skeletal Muscle Female	skeletal muscle

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