Variant report

Variant	rs72747481
Chromosome Location	chr9:96444789-96444790
allele	G/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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:96444128..96445167-chr9:96724637..96725907,10	K562	blood:
2	chr9:96442742..96446259-chr9:96719078..96722660,3	MCF-7	breast:
3	chr9:96444762..96447288-chr9:96447833..96449686,2	MCF-7	breast:
4	chr9:96443766..96445914-chr9:96765340..96767005,2	MCF-7	breast:
5	chr9:96444176..96445839-chr9:96582616..96583550,7	MCF-7	breast:
6	chr9:96444213..96445067-chr9:96670972..96672102,3	MCF-7	breast:
7	chr9:96443987..96444856-chr9:96763439..96764242,2	MCF-7	breast:
8	chr9:96443866..96445187-chr9:96726929..96728716,7	MCF-7	breast:
9	chr9:96444144..96445247-chr9:96764543..96765553,7	MCF-7	breast:
10	chr9:96443546..96446066-chr9:96715342..96717948,2	MCF-7	breast:
11	chr9:96444155..96444970-chr9:96725446..96726134,3	MCF-7	breast:
12	chr9:96444182..96444858-chr9:96764335..96765029,3	K562	blood:
13	chr9:96444184..96445089-chr9:96724737..96725876,7	MCF-7	breast:
14	chr10:78850015..78850515-chr9:96444142..96445078,2	MCF-7	breast:
15	chr9:96444131..96445035-chr9:96705927..96707008,5	MCF-7	breast:
16	chr9:96443001..96444886-chr9:96710905..96713769,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000235601	Chromatin interaction
ENSG00000131668	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10115715	0.82[EUR][1000 genomes]
rs10117599	0.82[EUR][1000 genomes]
rs10121780	0.82[EUR][1000 genomes]
rs10821205	0.90[ASN][1000 genomes]
rs10992817	0.82[EUR][1000 genomes]
rs10992818	0.82[EUR][1000 genomes]
rs10992820	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10992843	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10992873	0.90[ASN][1000 genomes]
rs1132003	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12335855	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12341126	0.82[EUR][1000 genomes]
rs12341865	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12348927	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12349481	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12350966	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12351976	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12352026	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13440078	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13440115	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2001316	0.82[EUR][1000 genomes]
rs2001995	0.82[EUR][1000 genomes]
rs35137913	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3750364	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs41276198	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs41276204	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4390004	0.90[ASN][1000 genomes]
rs55682342	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7023609	1.00[ASN][1000 genomes]
rs72747414	0.83[EUR][1000 genomes]
rs72747430	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72747446	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72747448	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72747451	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72747468	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72747474	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72747487	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7863264	0.90[ASN][1000 genomes]
rs7869847	0.82[EUR][1000 genomes]
rs9695734	0.82[EUR][1000 genomes];0.82[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	nsv893586	chr9:96363859-96493773	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv1036609	chr9:96375217-96477641	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv893587	chr9:96383605-96451784	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96412600-96445000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:96413000-96444800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr9:96436800-96447000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr9:96437800-96444800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr9:96439600-96444800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr9:96439800-96444800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr9:96439800-96444800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr9:96440400-96444800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr9:96440600-96444800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr9:96440600-96447600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr9:96440800-96444800	Weak transcription	Left Ventricle	heart
12	chr9:96440800-96445600	Weak transcription	NHLF	lung
13	chr9:96440800-96447400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr9:96441000-96446400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr9:96441000-96447200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr9:96442200-96446200	Weak transcription	Lung	lung
17	chr9:96442400-96446200	Weak transcription	Thymus	Thymus
18	chr9:96442400-96447400	Weak transcription	Adipose Nuclei	Adipose
19	chr9:96442400-96447600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr9:96442600-96447600	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr9:96442800-96449200	Weak transcription	Fetal Muscle Leg	muscle
22	chr9:96443600-96445200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr9:96444000-96445000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
24	chr9:96444000-96445600	Enhancers	Placenta	Placenta
25	chr9:96444200-96449400	Enhancers	Fetal Stomach	stomach
26	chr9:96444400-96444800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr9:96444400-96444800	Enhancers	Primary B cells from peripheral blood	blood
28	chr9:96444400-96444800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr9:96444400-96444800	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr9:96444600-96444800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr9:96444600-96444800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr9:96444600-96444800	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr9:96444600-96444800	Enhancers	Colonic Mucosa	Colon
34	chr9:96444600-96444800	Enhancers	Fetal Lung	lung
35	chr9:96444600-96445000	Enhancers	HepG2	liver

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