Variant report

Variant	rs72723760
Chromosome Location	chr4:152120681-152120682
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:152116628..152118796-chr4:152119298..152121521,2	MCF-7	breast:
2	chr4:152120488..152122139-chr4:152131128..152132730,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs55744848	1.00[EUR][1000 genomes]
rs55752281	1.00[AMR][1000 genomes]
rs56085192	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56241356	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56357656	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72719695	1.00[AMR][1000 genomes]
rs72721703	1.00[AMR][1000 genomes]
rs72721704	1.00[AMR][1000 genomes]
rs72721706	1.00[AMR][1000 genomes]
rs72721708	1.00[AMR][1000 genomes]
rs72721716	1.00[AMR][1000 genomes]
rs72721719	1.00[AMR][1000 genomes]
rs72721721	1.00[AMR][1000 genomes]
rs72721722	1.00[AMR][1000 genomes]
rs72721726	1.00[AMR][1000 genomes]
rs72721728	1.00[AMR][1000 genomes]
rs72721731	1.00[AMR][1000 genomes]
rs72721732	1.00[AMR][1000 genomes]
rs72721733	1.00[AMR][1000 genomes]
rs72721734	1.00[AMR][1000 genomes]
rs72721739	1.00[AMR][1000 genomes]
rs72721745	1.00[AMR][1000 genomes]
rs72721755	1.00[AMR][1000 genomes]
rs72721758	1.00[AMR][1000 genomes]
rs72721759	1.00[AMR][1000 genomes]
rs72721765	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72721767	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72721769	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72721789	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72721792	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72721794	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72721795	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72721798	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72721799	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72721801	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72721802	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72723710	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72723728	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72723732	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72723733	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72723739	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72723740	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72723745	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72723747	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72723756	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72723759	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72723763	1.00[EUR][1000 genomes]
rs72723765	1.00[EUR][1000 genomes]
rs72723778	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034948	chr4:151590115-152202687	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv537302	chr4:151590115-152202687	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv530159	chr4:151624865-152203910	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv948719	chr4:151693149-152161625	Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv880262	chr4:151712054-152519899	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
6	nsv881526	chr4:151968295-152489087	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv1016220	chr4:151997139-152164126	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv537306	chr4:151997139-152164126	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv870229	chr4:152114410-152161072	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152097200-152123600	Weak transcription	Pancreas	Pancrea
2	chr4:152097200-152136600	Weak transcription	Colonic Mucosa	Colon
3	chr4:152097400-152123600	Weak transcription	Aorta	Aorta
4	chr4:152097600-152128800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:152098400-152147200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr4:152113400-152124400	Weak transcription	Fetal Intestine Small	intestine
7	chr4:152115000-152124000	Weak transcription	Psoas Muscle	Psoas
8	chr4:152117600-152121400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:152117600-152123200	Weak transcription	Placenta	Placenta
10	chr4:152117600-152123600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr4:152117600-152124000	Weak transcription	NH-A	brain
12	chr4:152117600-152124200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:152117600-152124400	Weak transcription	A549	lung
14	chr4:152117600-152148800	Weak transcription	Esophagus	oesophagus
15	chr4:152118600-152124200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr4:152118600-152124200	Weak transcription	Stomach Mucosa	stomach
17	chr4:152118800-152123400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr4:152118800-152123400	Weak transcription	HSMM	muscle
19	chr4:152118800-152146600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:152119000-152121600	Enhancers	NHDF-Ad	bronchial
21	chr4:152119000-152123400	Weak transcription	HSMMtube	muscle
22	chr4:152119000-152124000	Weak transcription	HUVEC	blood vessel
23	chr4:152119000-152139400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:152119200-152129000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr4:152119400-152122400	Enhancers	Brain Substantia Nigra	brain
26	chr4:152119400-152139400	Weak transcription	NHEK	skin
27	chr4:152119600-152120800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr4:152119600-152122400	Enhancers	Fetal Lung	lung
29	chr4:152119800-152120800	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr4:152119800-152121000	Enhancers	Brain Germinal Matrix	brain
31	chr4:152119800-152121400	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr4:152119800-152123400	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr4:152120000-152120800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:152120000-152120800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr4:152120000-152120800	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr4:152120000-152121000	Enhancers	Fetal Stomach	stomach
37	chr4:152120000-152121200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr4:152120000-152121200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr4:152120000-152121200	Enhancers	NHLF	lung
40	chr4:152120000-152122000	Enhancers	Fetal Heart	heart
41	chr4:152120000-152122800	Enhancers	HepG2	liver
42	chr4:152120200-152120800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr4:152120200-152120800	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr4:152120200-152121000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:152120200-152121000	Enhancers	Muscle Satellite Cultured Cells	--
46	chr4:152120400-152120800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr4:152120400-152120800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr4:152120400-152120800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr4:152120400-152120800	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr4:152120400-152120800	Enhancers	Brain Anterior Caudate	brain

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