Variant report

Variant	rs36672
Chromosome Location	chr5:36744663-36744664
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:36744540..36745365-chr5:36870089..36871235,6	MCF-7	breast:
2	chr5:36744217..36747059-chr5:36749428..36753398,8	MCF-7	breast:
3	chr5:36732120..36732892-chr5:36744110..36745030,3	MCF-7	breast:
4	chr5:36744502..36747047-chr5:36751959..36755394,3	MCF-7	breast:
5	chr5:36744297..36746833-chr5:36748799..36751172,2	K562	blood:
6	chr5:36743708..36745991-chr5:36870504..36872039,2	K562	blood:
7	chr5:36731899..36747051-chr5:36866466..36880074,35	MCF-7	breast:
8	chr5:36743938..36745907-chr5:36986468..36988860,2	MCF-7	breast:
9	chr5:36735155..36740108-chr5:36743022..36746397,5	MCF-7	breast:
10	chr5:36743280..36745577-chr9:35070829..35072757,2	MCF-7	breast:
11	chr5:36743974..36745923-chr5:36784208..36786489,2	MCF-7	breast:
12	chr5:36743855..36746677-chr5:36948839..36952257,4	MCF-7	breast:
13	chr5:36737510..36747021-chr5:36869125..36879786,23	MCF-7	breast:
14	chr5:36743906..36746722-chr5:37004914..37007847,3	MCF-7	breast:
15	chr5:36744407..36745358-chr5:36944478..36945301,2	MCF-7	breast:
16	chr5:36744352..36746583-chr5:36857576..36860969,4	MCF-7	breast:
17	chr5:36743568..36746318-chr5:37004430..37006314,2	MCF-7	breast:
18	chr5:36741088..36745086-chr5:36779316..36782970,3	MCF-7	breast:
19	chr5:36742942..36746857-chr5:36753585..36757067,4	MCF-7	breast:
20	chr5:36744657..36745458-chr5:37006187..37006735,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000164190	Chromatin interaction
ENSG00000165280	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs165962	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs187391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs245671	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs245672	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs245674	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs36650	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs36668	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36669	0.82[ASN][1000 genomes]
rs36671	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36675	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs42320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv830263	chr5:36576504-36755093	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr5:36744000-36744800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr5:36744000-36745000	Flanking Active TSS	Stomach Smooth Muscle	stomach
3	chr5:36744000-36745800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr5:36744000-36745800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr5:36744000-36745800	ZNF genes & repeats	Right Atrium	heart
6	chr5:36744000-36746000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr5:36744000-36746000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr5:36744200-36744800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:36744200-36744800	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:36744200-36744800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr5:36744200-36744800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr5:36744200-36744800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
13	chr5:36744200-36744800	Flanking Active TSS	Brain Hippocampus Middle	brain
14	chr5:36744200-36744800	Flanking Active TSS	Fetal Brain Male	brain
15	chr5:36744200-36744800	Flanking Active TSS	Fetal Muscle Leg	muscle
16	chr5:36744200-36744800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr5:36744200-36744800	Weak transcription	Small Intestine	intestine
18	chr5:36744200-36744800	Enhancers	Spleen	Spleen
19	chr5:36744200-36744800	Flanking Active TSS	GM12878-XiMat	blood
20	chr5:36744200-36744800	Flanking Active TSS	K562	blood
21	chr5:36744200-36745000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:36744200-36745000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:36744200-36745200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:36744200-36745400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr5:36744200-36745400	Flanking Active TSS	Osteobl	bone
26	chr5:36744200-36745600	Active TSS	Aorta	Aorta
27	chr5:36744200-36745800	Active TSS	H9 Cell Line	embryonic stem cell
28	chr5:36744200-36745800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr5:36744200-36745800	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr5:36744200-36745800	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr5:36744200-36746000	Flanking Active TSS	Liver	Liver
32	chr5:36744200-36746000	Active TSS	Colonic Mucosa	Colon
33	chr5:36744200-36746000	Active TSS	Esophagus	oesophagus
34	chr5:36744200-36746200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr5:36744200-36746200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr5:36744400-36744800	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
37	chr5:36744400-36744800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
38	chr5:36744400-36744800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
39	chr5:36744400-36744800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
40	chr5:36744400-36744800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr5:36744400-36744800	Flanking Active TSS	Brain Angular Gyrus	brain
42	chr5:36744400-36744800	Flanking Active TSS	Brain Cingulate Gyrus	brain
43	chr5:36744400-36744800	Flanking Active TSS	Brain Substantia Nigra	brain
44	chr5:36744400-36744800	Flanking Active TSS	Fetal Brain Female	brain
45	chr5:36744400-36744800	Flanking Active TSS	Fetal Lung	lung
46	chr5:36744400-36744800	Flanking Active TSS	Placenta	Placenta
47	chr5:36744400-36744800	Flanking Active TSS	Right Ventricle	heart
48	chr5:36744400-36744800	Flanking Active TSS	Thymus	Thymus
49	chr5:36744400-36744800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
50	chr5:36744400-36745000	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood

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