Variant report

Variant	rs72723740
Chromosome Location	chr4:152096180-152096181
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs55644104	1.00[AMR][1000 genomes]
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]
rs56385344	1.00[AMR][1000 genomes]
rs72719683	1.00[AMR][1000 genomes]
rs72719692	1.00[AMR][1000 genomes]
rs72719693	1.00[AMR][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]
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]
rs72723760	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:10 , 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	nsv595690	chr4:151788955-152109552	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats 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	35 gene(s)	inside rSNPs	diseases
7	nsv1026416	chr4:151847403-152105879	Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152055000-152105800	Weak transcription	Small Intestine	intestine
2	chr4:152088000-152096200	Weak transcription	A549	lung
3	chr4:152088000-152101600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr4:152088200-152114600	Weak transcription	Psoas Muscle	Psoas
5	chr4:152089200-152097800	Strong transcription	Duodenum Mucosa	Duodenum
6	chr4:152089200-152098000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:152090200-152096200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr4:152090400-152105800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr4:152090600-152097600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:152090800-152096200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr4:152091200-152103800	Weak transcription	Fetal Brain Male	brain
12	chr4:152091200-152107000	Weak transcription	HSMMtube	muscle
13	chr4:152092000-152098400	Strong transcription	Muscle Satellite Cultured Cells	--
14	chr4:152092200-152097200	Weak transcription	Fetal Kidney	kidney
15	chr4:152092600-152098000	Strong transcription	HUVEC	blood vessel
16	chr4:152092600-152098600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr4:152092800-152098400	Strong transcription	NH-A	brain
18	chr4:152093200-152098400	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr4:152093400-152097800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:152093400-152097800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr4:152093400-152098200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr4:152093400-152098400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:152093400-152098600	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr4:152093600-152096200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr4:152093600-152096400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:152093600-152096800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:152093600-152098400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:152093800-152097800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr4:152093800-152098000	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr4:152093800-152098400	Strong transcription	Liver	Liver
31	chr4:152094000-152096600	Genic enhancers	Duodenum Smooth Muscle	Duodenum
32	chr4:152094000-152098400	Strong transcription	HepG2	liver
33	chr4:152094200-152097800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr4:152094200-152098200	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr4:152094600-152096400	Genic enhancers	Placenta Amnion	Placenta Amnion
36	chr4:152094600-152096800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr4:152094600-152097000	Enhancers	Fetal Heart	heart
38	chr4:152094800-152096600	Genic enhancers	Adipose Nuclei	Adipose
39	chr4:152094800-152096800	Genic enhancers	Fetal Stomach	stomach
40	chr4:152094800-152100600	Strong transcription	HSMM	muscle
41	chr4:152095000-152096800	Strong transcription	HMEC	breast
42	chr4:152095000-152098400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr4:152095200-152096200	Genic enhancers	Fetal Muscle Trunk	muscle
44	chr4:152095200-152096400	Strong transcription	Esophagus	oesophagus
45	chr4:152095200-152096400	Genic enhancers	Fetal Intestine Small	intestine
46	chr4:152095200-152096600	Genic enhancers	Fetal Intestine Large	intestine
47	chr4:152095200-152096600	Genic enhancers	Fetal Muscle Leg	muscle
48	chr4:152095200-152096800	Genic enhancers	Brain Hippocampus Middle	brain
49	chr4:152095200-152097000	Genic enhancers	Brain Cingulate Gyrus	brain
50	chr4:152095200-152097200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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