Variant report

Variant	rs72772091
Chromosome Location	chr5:96040122-96040123
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:95998068..96000217-chr5:96038673..96040696,2	MCF-7	breast:
2	chr5:96038597..96040371-chr5:96076002..96079687,4	K562	blood:
3	chr5:96034121..96036027-chr5:96039934..96041502,2	K562	blood:
4	chr5:96035534..96040371-chr5:96075768..96079687,8	K562	blood:

Variant related genes	Relation type
ENSG00000249180	Chromatin interaction
ENSG00000153113	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10447215	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10515244	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11738135	0.99[EUR][1000 genomes]
rs11739280	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11744642	0.86[AMR][1000 genomes]
rs11745122	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11750399	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11750400	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11750510	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12188168	1.00[EUR][1000 genomes]
rs1559085	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17082200	1.00[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs17086588	1.00[EUR][1000 genomes]
rs17400685	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17400741	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17479052	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34942552	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55695458	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56116814	0.98[EUR][1000 genomes]
rs56122780	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56257788	0.99[EUR][1000 genomes]
rs6864233	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72772090	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72772092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72772095	1.00[AMR][1000 genomes];0.98[EUR][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	nsv1024964	chr5:95742124-96065492	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv537811	chr5:95742124-96065492	Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	nsv1015173	chr5:95987366-96153392	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96038000-96040200	Active TSS	Brain Angular Gyrus	brain
2	chr5:96038000-96040800	Active TSS	Psoas Muscle	Psoas
3	chr5:96038200-96040200	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr5:96038200-96041000	Active TSS	Right Ventricle	heart
5	chr5:96038600-96040400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:96039000-96040200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr5:96039200-96040200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:96039200-96040200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr5:96039200-96050600	Weak transcription	Gastric	stomach
10	chr5:96039200-96054400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:96039200-96054400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr5:96039200-96054400	Weak transcription	Spleen	Spleen
13	chr5:96039200-96059800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:96039400-96040200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:96039400-96040200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:96039400-96040200	Flanking Active TSS	Brain Hippocampus Middle	brain
17	chr5:96039400-96040200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr5:96039400-96043200	Weak transcription	Esophagus	oesophagus
19	chr5:96039400-96043200	Weak transcription	Lung	lung
20	chr5:96039400-96050200	Weak transcription	Aorta	Aorta
21	chr5:96039600-96040200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr5:96039600-96040200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr5:96039600-96040200	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr5:96039600-96040200	Flanking Active TSS	Duodenum Mucosa	Duodenum
25	chr5:96039600-96040200	Enhancers	Stomach Mucosa	stomach
26	chr5:96039600-96040400	Transcr. at gene 5' and 3'	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr5:96039600-96040400	Enhancers	Fetal Heart	heart
28	chr5:96039600-96040600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr5:96039600-96046200	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr5:96039600-96063600	Weak transcription	Fetal Muscle Trunk	muscle
31	chr5:96039800-96040200	Enhancers	Brain Substantia Nigra	brain
32	chr5:96039800-96040200	Active TSS	Fetal Intestine Small	intestine
33	chr5:96039800-96040400	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr5:96039800-96040400	Active TSS	Fetal Intestine Large	intestine
35	chr5:96039800-96040400	Enhancers	HUVEC	blood vessel
36	chr5:96039800-96040600	Enhancers	Colon Smooth Muscle	Colon
37	chr5:96039800-96040600	Enhancers	HepG2	liver
38	chr5:96039800-96041400	Weak transcription	Primary B cells from peripheral blood	blood
39	chr5:96039800-96042000	Weak transcription	HSMMtube	muscle
40	chr5:96039800-96048000	Weak transcription	Pancreas	Pancrea
41	chr5:96039800-96049600	Weak transcription	Fetal Muscle Leg	muscle
42	chr5:96039800-96049800	Weak transcription	Primary hematopoietic stem cells	blood
43	chr5:96040000-96040200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr5:96040000-96040200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr5:96040000-96040200	Enhancers	Brain Anterior Caudate	brain
46	chr5:96040000-96040200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr5:96040000-96040200	Active TSS	Stomach Smooth Muscle	stomach
48	chr5:96040000-96040200	Enhancers	Osteobl	bone
49	chr5:96040000-96040400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr5:96040000-96040400	Enhancers	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links