Variant report

Variant	rs56267544
Chromosome Location	chr5:80775408-80775409
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	chr5:80774641..80776588-chr5:80777799..80779844,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10044074	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10064511	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10474030	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11949541	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16898954	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28718252	0.87[ASN][1000 genomes]
rs3805725	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60975727	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6872789	0.92[ASN][1000 genomes]
rs73132098	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9293274	0.85[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1028498	chr5:80712364-80860430	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80703200-80779200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:80735400-80778600	Weak transcription	Aorta	Aorta
3	chr5:80766200-80800000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr5:80769800-80776400	Weak transcription	Pancreas	Pancrea
5	chr5:80769800-80778600	Weak transcription	K562	blood
6	chr5:80769800-80779600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr5:80770000-80776200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr5:80770000-80777600	Weak transcription	Fetal Muscle Leg	muscle
9	chr5:80770000-80778000	Weak transcription	Thymus	Thymus
10	chr5:80770000-80778200	Weak transcription	Primary B cells from cord blood	blood
11	chr5:80770000-80779400	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr5:80770000-80781000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr5:80770000-80782600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:80770000-80787800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr5:80770000-80789000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:80770000-80790400	Weak transcription	Right Ventricle	heart
17	chr5:80770000-80797800	Weak transcription	GM12878-XiMat	blood
18	chr5:80770000-80800200	Weak transcription	Brain Anterior Caudate	brain
19	chr5:80770000-80801600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr5:80770000-80801600	Weak transcription	NHLF	lung
21	chr5:80770000-80803000	Weak transcription	Fetal Kidney	kidney
22	chr5:80770000-80811000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr5:80770000-80812000	Weak transcription	Left Ventricle	heart
24	chr5:80770200-80782600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:80770200-80782600	Weak transcription	Adipose Nuclei	Adipose
26	chr5:80770200-80784200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr5:80770200-80794800	Weak transcription	Fetal Brain Female	brain
28	chr5:80770200-80811000	Weak transcription	Colon Smooth Muscle	Colon
29	chr5:80770400-80778000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr5:80770400-80778000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr5:80770400-80778400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr5:80770400-80778600	Weak transcription	Primary T cells from cord blood	blood
33	chr5:80770400-80779400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr5:80770400-80781400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr5:80770400-80793600	Weak transcription	Brain Germinal Matrix	brain
36	chr5:80770400-80801600	Weak transcription	Ovary	ovary
37	chr5:80770400-80808200	Weak transcription	Fetal Stomach	stomach
38	chr5:80770600-80778000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr5:80771000-80776400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:80771000-80776600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr5:80771000-80777800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr5:80771000-80778400	Weak transcription	Fetal Lung	lung
43	chr5:80771000-80780200	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr5:80771200-80799600	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr5:80773200-80776200	Weak transcription	Fetal Thymus	thymus
46	chr5:80773200-80778000	Weak transcription	Dnd41	blood
47	chr5:80773200-80778400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:80773400-80776000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr5:80773400-80786600	Weak transcription	Primary hematopoietic stem cells	blood
50	chr5:80774200-80776400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links