Variant report

Variant	rs72938578
Chromosome Location	chr2:85731179-85731180
allele	C/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:85729885..85732637-chr2:85779095..85781811,2	K562	blood:
2	chr2:85729360..85731940-chr2:85770278..85775581,5	K562	blood:
3	chr2:85721306..85734455-chr2:85761299..85769531,43	K562	blood:
4	chr2:85613848..85616699-chr2:85729476..85732322,2	K562	blood:
5	chr2:85729372..85732165-chr2:85769657..85772288,2	MCF-7	breast:
6	chr2:85730345..85732165-chr2:85772165..85774590,2	K562	blood:
7	chr2:85727108..85732235-chr2:85765066..85768595,7	MCF-7	breast:
8	chr2:85728478..85734662-chr2:85763857..85768220,13	MCF-7	breast:
9	chr2:85722180..85736122-chr2:85762661..85770266,54	K562	blood:

No data

Variant related genes	Relation type
ENSG00000115459	Chromatin interaction
ENSG00000273196	Chromatin interaction
ENSG00000168906	Chromatin interaction
ENSG00000115486	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs59430995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6727275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6727773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6727858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs68055751	0.87[AFR][1000 genomes]
rs72938567	0.85[AMR][1000 genomes]
rs72938570	0.85[AMR][1000 genomes]
rs72938576	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1005351	chr2:85242657-85774909	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	198 gene(s)	inside rSNPs	diseases
2	nsv535803	chr2:85242657-85774909	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	198 gene(s)	inside rSNPs	diseases
3	nsv834283	chr2:85609500-85755708	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85726000-85735000	Enhancers	NHDF-Ad	bronchial
2	chr2:85726400-85732000	Weak transcription	Fetal Thymus	thymus
3	chr2:85726400-85734400	Enhancers	A549	lung
4	chr2:85727000-85732400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:85727400-85731800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr2:85727600-85731800	Weak transcription	Lung	lung
7	chr2:85727600-85732000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:85727800-85732600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr2:85727800-85733200	Enhancers	HUVEC	blood vessel
10	chr2:85728800-85732600	Enhancers	K562	blood
11	chr2:85729000-85732000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr2:85729200-85731200	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr2:85729200-85732800	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr2:85729200-85733200	Enhancers	Stomach Mucosa	stomach
15	chr2:85729400-85731400	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr2:85729400-85732400	Enhancers	Gastric	stomach
17	chr2:85729400-85732400	Enhancers	Pancreas	Pancrea
18	chr2:85729400-85733200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:85729400-85733200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:85729400-85733200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:85729400-85733200	Enhancers	Placenta	Placenta
22	chr2:85729400-85733200	Enhancers	Left Ventricle	heart
23	chr2:85729400-85733200	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr2:85729400-85735000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:85729600-85733200	Enhancers	Fetal Muscle Leg	muscle
26	chr2:85729600-85733400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:85729600-85733400	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr2:85729600-85733600	Enhancers	Adipose Nuclei	Adipose
29	chr2:85729600-85733600	Enhancers	HMEC	breast
30	chr2:85729600-85734600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:85729600-85734600	Enhancers	Osteobl	bone
32	chr2:85729800-85732600	Weak transcription	Primary hematopoietic stem cells	blood
33	chr2:85729800-85733200	Enhancers	Colonic Mucosa	Colon
34	chr2:85729800-85735000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:85729800-85738000	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr2:85730000-85731800	Enhancers	Psoas Muscle	Psoas
37	chr2:85730000-85732000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr2:85730000-85733200	Enhancers	Brain Substantia Nigra	brain
39	chr2:85730000-85733400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:85730000-85733400	Enhancers	Right Ventricle	heart
41	chr2:85730000-85734600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr2:85730000-85735000	Enhancers	NHLF	lung
43	chr2:85730200-85731200	Weak transcription	Right Atrium	heart
44	chr2:85730400-85731400	Flanking Active TSS	HSMM	muscle
45	chr2:85730400-85733200	Enhancers	Esophagus	oesophagus
46	chr2:85730400-85733600	Enhancers	Fetal Muscle Trunk	muscle
47	chr2:85730400-85734600	Enhancers	HSMMtube	muscle
48	chr2:85730600-85731400	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr2:85730600-85732000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr2:85730600-85733200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links