Variant report

Variant	rs57263260
Chromosome Location	chr18:8249471-8249472
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:8239710..8241643-chr18:8248526..8251339,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11661288	0.95[ASN][1000 genomes]
rs28848522	0.86[ASN][1000 genomes]
rs28883099	0.91[ASN][1000 genomes]
rs34859607	0.91[ASN][1000 genomes]
rs58364481	0.91[ASN][1000 genomes]
rs6506565	0.91[ASN][1000 genomes]
rs7230383	0.91[ASN][1000 genomes]
rs7231433	0.91[ASN][1000 genomes]
rs7244780	0.81[ASN][1000 genomes]
rs72911260	0.91[ASN][1000 genomes]
rs72911268	0.95[ASN][1000 genomes]
rs72911270	0.95[ASN][1000 genomes]
rs72911272	0.95[ASN][1000 genomes]
rs72911274	0.95[ASN][1000 genomes]
rs72911277	0.95[ASN][1000 genomes]
rs73939411	0.95[ASN][1000 genomes]
rs7507039	0.91[ASN][1000 genomes]
rs9951847	0.81[ASN][1000 genomes]
rs9960673	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv458018	chr18:8110805-8645907	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS 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	23 gene(s)	inside rSNPs	diseases
3	nsv576426	chr18:8110805-8645907	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1057288	chr18:8218725-8351340	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv543639	chr18:8218725-8351340	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1055995	chr18:8222469-8271135	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8191200-8288600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr18:8211600-8265000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr18:8217800-8257800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr18:8227000-8253200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr18:8227200-8255000	Weak transcription	A549	lung
6	chr18:8227400-8254000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr18:8230200-8254200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr18:8231400-8265000	Weak transcription	Pancreas	Pancrea
9	chr18:8233200-8253200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr18:8235000-8260400	Weak transcription	Psoas Muscle	Psoas
11	chr18:8239600-8253200	Weak transcription	Right Ventricle	heart
12	chr18:8239600-8264000	Weak transcription	HepG2	liver
13	chr18:8241200-8263600	Weak transcription	Fetal Lung	lung
14	chr18:8242200-8252000	Weak transcription	Colon Smooth Muscle	Colon
15	chr18:8242200-8252400	Weak transcription	Fetal Brain Female	brain
16	chr18:8242400-8254800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr18:8242400-8260600	Weak transcription	Brain Hippocampus Middle	brain
18	chr18:8242400-8261000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr18:8242400-8264000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr18:8242600-8251000	Weak transcription	Brain Substantia Nigra	brain
21	chr18:8242600-8253000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr18:8242600-8254000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr18:8242600-8260600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr18:8243400-8263000	Weak transcription	Gastric	stomach
25	chr18:8243800-8252800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr18:8244000-8260400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr18:8244400-8255600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr18:8244600-8254600	Weak transcription	Liver	Liver
29	chr18:8245000-8258200	Weak transcription	Spleen	Spleen
30	chr18:8245200-8262800	Weak transcription	Fetal Thymus	thymus
31	chr18:8245400-8251200	Weak transcription	Lung	lung
32	chr18:8245400-8252400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr18:8245400-8253000	Weak transcription	Fetal Muscle Leg	muscle
34	chr18:8245400-8253200	Weak transcription	Fetal Heart	heart
35	chr18:8245400-8253200	Weak transcription	Fetal Stomach	stomach
36	chr18:8245400-8254000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr18:8245400-8254400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr18:8245400-8260000	Weak transcription	Ovary	ovary
39	chr18:8245400-8272000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr18:8245400-8288600	Weak transcription	Aorta	Aorta
41	chr18:8245600-8260200	Weak transcription	Thymus	Thymus
42	chr18:8246600-8259600	Weak transcription	NHEK	skin
43	chr18:8246800-8274000	Weak transcription	Hela-S3	cervix
44	chr18:8247400-8254800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr18:8247400-8263000	Weak transcription	HMEC	breast
46	chr18:8247600-8250000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr18:8247600-8250000	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr18:8247600-8250200	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr18:8247800-8250200	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr18:8247800-8260200	Weak transcription	Primary T cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links