Variant report

Variant	rs72763551
Chromosome Location	chr5:79706771-79706772
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:79704087..79706169-chr5:79706671..79709625,3	MCF-7	breast:
2	chr5:79705314..79707615-chr5:79721601..79723167,2	K562	blood:
3	chr5:79704698..79706938-chr5:79709845..79711807,2	K562	blood:
4	chr5:79704434..79706120-chr5:79706146..79708385,2	K562	blood:
5	chr5:79703202..79705263-chr5:79706563..79708626,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000039319	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13187593	0.93[ASN][1000 genomes]
rs34748622	0.90[ASN][1000 genomes]
rs62365285	0.90[ASN][1000 genomes]
rs62365313	0.87[AMR][1000 genomes]
rs62367060	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7712536	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948807	chr5:79549207-79805765	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv518480	chr5:79586085-79748382	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1028027	chr5:79694699-79841752	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79702800-79706800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:79704600-79707400	Weak transcription	Left Ventricle	heart
3	chr5:79704600-79707600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:79704600-79710000	Weak transcription	Pancreas	Pancrea
5	chr5:79704600-79710600	Weak transcription	Small Intestine	intestine
6	chr5:79704600-79717000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr5:79704600-79723600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:79704600-79730200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr5:79704600-79730200	Weak transcription	Lung	lung
10	chr5:79704600-79758000	Weak transcription	Spleen	Spleen
11	chr5:79704600-79758600	Weak transcription	Gastric	stomach
12	chr5:79704800-79708000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr5:79704800-79711200	Weak transcription	Primary B cells from peripheral blood	blood
14	chr5:79704800-79711200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr5:79704800-79731600	Weak transcription	Fetal Thymus	thymus
16	chr5:79705600-79707800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr5:79705600-79731200	Weak transcription	Aorta	Aorta
18	chr5:79705600-79757400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr5:79705800-79707200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr5:79705800-79707400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr5:79705800-79707400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr5:79705800-79707400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr5:79705800-79707600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:79705800-79707600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr5:79705800-79707600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr5:79705800-79707600	Weak transcription	Fetal Stomach	stomach
27	chr5:79705800-79707600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr5:79705800-79708400	Weak transcription	Primary hematopoietic stem cells	blood
29	chr5:79705800-79708600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr5:79705800-79708800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr5:79705800-79709000	Weak transcription	Stomach Mucosa	stomach
32	chr5:79705800-79709600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:79705800-79710200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr5:79705800-79710400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr5:79705800-79712200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr5:79705800-79712800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr5:79705800-79713000	Weak transcription	NHEK	skin
38	chr5:79705800-79715000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr5:79705800-79715000	Weak transcription	Fetal Intestine Small	intestine
40	chr5:79705800-79723400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr5:79705800-79730200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr5:79705800-79731400	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr5:79705800-79731800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr5:79706000-79706800	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr5:79706000-79707000	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr5:79706000-79707200	Weak transcription	Fetal Heart	heart
47	chr5:79706000-79707200	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr5:79706000-79707400	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr5:79706000-79707400	Weak transcription	Adipose Nuclei	Adipose
50	chr5:79706000-79707400	Weak transcription	Duodenum Smooth Muscle	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links