Variant report

Variant	rs56347809
Chromosome Location	chr4:152967287-152967288
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:152966128..152968026-chr4:152970722..152972855,2	K562	blood:

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

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

rs_ID	r²[population]
rs16998854	0.87[AFR][1000 genomes]
rs17028519	1.00[AMR][1000 genomes]
rs17028523	1.00[AMR][1000 genomes]
rs17028527	1.00[AMR][1000 genomes]
rs17028532	1.00[AMR][1000 genomes]
rs17028534	1.00[AMR][1000 genomes]
rs55951057	1.00[AMR][1000 genomes]
rs56308140	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56364547	1.00[AMR][1000 genomes]
rs60062078	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60708822	1.00[AMR][1000 genomes]
rs60726234	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61149531	1.00[AMR][1000 genomes]
rs61374994	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61563040	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72968641	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72968645	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72970421	1.00[AMR][1000 genomes]
rs72970442	0.87[AFR][1000 genomes]
rs72970444	0.87[AFR][1000 genomes]
rs72970445	0.87[AFR][1000 genomes]
rs72970453	1.00[AMR][1000 genomes]
rs72970454	1.00[AMR][1000 genomes]
rs72970456	1.00[AMR][1000 genomes]
rs72970457	1.00[AMR][1000 genomes]
rs72970464	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	nsv432644	chr4:152635395-153023402	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv880341	chr4:152861685-153110256	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv931416	chr4:152877808-153440553	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv461679	chr4:152935555-152992741	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv595734	chr4:152935555-152992741	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152965800-152967400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr4:152966600-152967400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr4:152966600-152967400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:152966600-152967400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
5	chr4:152966600-152967400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
6	chr4:152966600-152967400	Flanking Active TSS	Thymus	Thymus
7	chr4:152966600-152967600	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr4:152966600-152967600	Enhancers	Fetal Brain Male	brain
9	chr4:152966600-152967600	Bivalent Enhancer	Fetal Muscle Leg	muscle
10	chr4:152966600-152967600	Bivalent Enhancer	Placenta	Placenta
11	chr4:152966600-152967600	Bivalent Enhancer	Fetal Stomach	stomach
12	chr4:152966600-152967600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
13	chr4:152966600-152967600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr4:152966600-152967800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr4:152966600-152969400	Enhancers	Fetal Heart	heart
16	chr4:152966600-152969800	Enhancers	HSMMtube	muscle
17	chr4:152966800-152967400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr4:152966800-152967400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:152966800-152967400	Flanking Active TSS	Primary B cells from peripheral blood	blood
20	chr4:152966800-152967400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
21	chr4:152966800-152967400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:152966800-152967400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr4:152966800-152967400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:152966800-152967400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:152966800-152967400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:152966800-152967400	Bivalent Enhancer	Brain Hippocampus Middle	brain
27	chr4:152966800-152967400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
28	chr4:152966800-152967400	Flanking Active TSS	Fetal Thymus	thymus
29	chr4:152966800-152967400	Enhancers	Psoas Muscle	Psoas
30	chr4:152966800-152967400	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr4:152966800-152967400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
32	chr4:152966800-152967400	Bivalent Enhancer	GM12878-XiMat	blood
33	chr4:152966800-152967400	Flanking Bivalent TSS/Enh	NH-A	brain
34	chr4:152966800-152967600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr4:152966800-152967600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr4:152966800-152967600	Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr4:152966800-152967600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr4:152966800-152967600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
39	chr4:152966800-152967600	Bivalent Enhancer	Liver	Liver
40	chr4:152966800-152967600	Bivalent Enhancer	Brain Substantia Nigra	brain
41	chr4:152966800-152967600	Enhancers	Esophagus	oesophagus
42	chr4:152966800-152967600	Enhancers	Left Ventricle	heart
43	chr4:152966800-152967600	Flanking Active TSS	Pancreas	Pancrea
44	chr4:152966800-152967600	Enhancers	Placenta Amnion	Placenta Amnion
45	chr4:152966800-152967600	Enhancers	HMEC	breast
46	chr4:152966800-152967800	Active TSS	H9 Cell Line	embryonic stem cell
47	chr4:152967000-152967400	Active TSS	H1 Cell Line	embryonic stem cell
48	chr4:152967000-152967400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr4:152967000-152967400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr4:152967000-152967400	Active TSS	HUES48 Cell Line	embryonic stem cell

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