Variant report

Variant	rs72806113
Chromosome Location	chr5:145623021-145623022
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10515568	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11540216	0.83[EUR][1000 genomes]
rs11952903	1.00[EUR][1000 genomes]
rs11959720	1.00[EUR][1000 genomes]
rs17104247	0.83[EUR][1000 genomes]
rs17104250	0.83[EUR][1000 genomes]
rs17104260	0.83[EUR][1000 genomes]
rs17104264	0.83[EUR][1000 genomes]
rs17104266	0.83[EUR][1000 genomes]
rs17104268	0.83[EUR][1000 genomes]
rs17104276	0.83[EUR][1000 genomes]
rs17104293	0.90[EUR][1000 genomes]
rs17104318	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17104321	0.96[EUR][1000 genomes]
rs17104322	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17104324	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17104331	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17104347	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17104362	1.00[EUR][1000 genomes]
rs17104371	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17104395	0.96[EUR][1000 genomes]
rs2163754	0.96[EUR][1000 genomes]
rs2895652	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4631229	1.00[EUR][1000 genomes]
rs56864252	0.83[EUR][1000 genomes]
rs57466173	1.00[EUR][1000 genomes]
rs57722184	0.93[EUR][1000 genomes]
rs58569901	0.83[EUR][1000 genomes]
rs58922378	1.00[EUR][1000 genomes]
rs60892265	0.95[EUR][1000 genomes]
rs61455974	0.83[EUR][1000 genomes]
rs66507348	0.83[EUR][1000 genomes]
rs66891285	0.83[EUR][1000 genomes]
rs67350755	0.83[EUR][1000 genomes]
rs67721586	0.83[EUR][1000 genomes]
rs67859456	0.96[EUR][1000 genomes]
rs67897591	0.83[EUR][1000 genomes]
rs68040240	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6870249	1.00[EUR][1000 genomes]
rs6871866	0.83[EUR][1000 genomes]
rs6882243	0.86[EUR][1000 genomes]
rs72806116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72806136	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72806144	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72806155	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72806173	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72806176	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72820451	0.83[EUR][1000 genomes]
rs72822208	0.83[EUR][1000 genomes]
rs72822249	0.83[EUR][1000 genomes]
rs72822252	0.83[EUR][1000 genomes]
rs72822263	0.83[EUR][1000 genomes]
rs72822274	0.83[EUR][1000 genomes]
rs72824110	0.86[EUR][1000 genomes]
rs72824123	0.93[EUR][1000 genomes]
rs72824124	0.93[EUR][1000 genomes]
rs73315720	0.83[EUR][1000 genomes]
rs73317887	0.93[EUR][1000 genomes]
rs73317890	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv883006	chr5:145450586-145672431	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv428128	chr5:145503978-145682880	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers 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	14 gene(s)	inside rSNPs	diseases
3	nsv883007	chr5:145506100-145672431	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv883008	chr5:145509728-145642925	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv883009	chr5:145567877-145672431	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv462475	chr5:145583623-145642007	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv599935	chr5:145583623-145642007	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv883010	chr5:145583623-145651979	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv883011	chr5:145583623-145672431	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
10	nsv523502	chr5:145588483-145639987	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv883012	chr5:145589542-145672431	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
12	nsv883013	chr5:145595837-145651979	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv517251	chr5:145622472-145630737	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv462478	chr5:145622472-145687295	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
15	nsv599937	chr5:145622472-145687295	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145584800-145631200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr5:145589000-145633200	Weak transcription	Brain Angular Gyrus	brain
3	chr5:145593400-145651000	Weak transcription	Stomach Mucosa	stomach
4	chr5:145594600-145624200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:145597000-145668400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr5:145597200-145640600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr5:145598000-145627200	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr5:145598000-145632200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr5:145598200-145623600	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:145598200-145640400	Weak transcription	Psoas Muscle	Psoas
11	chr5:145598400-145629600	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:145598400-145640400	Weak transcription	Fetal Heart	heart
13	chr5:145598800-145640600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:145599800-145640200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr5:145601600-145623800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:145601800-145648200	Weak transcription	Fetal Brain Male	brain
17	chr5:145602200-145625400	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr5:145602600-145647000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:145602600-145653800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:145602800-145626800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:145606400-145625600	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr5:145606600-145630000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr5:145610400-145630800	Weak transcription	NHEK	skin
24	chr5:145610400-145639800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr5:145610600-145630800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr5:145611000-145628200	Weak transcription	Gastric	stomach
27	chr5:145611000-145628200	Weak transcription	HepG2	liver
28	chr5:145611000-145640600	Weak transcription	Colonic Mucosa	Colon
29	chr5:145611200-145670600	Weak transcription	Small Intestine	intestine
30	chr5:145613200-145633200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr5:145613200-145634400	Weak transcription	Fetal Kidney	kidney
32	chr5:145613200-145641000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr5:145613400-145631200	Weak transcription	Brain Hippocampus Middle	brain
34	chr5:145613400-145640400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr5:145613400-145658800	Weak transcription	Pancreas	Pancrea
36	chr5:145614000-145624000	Weak transcription	NHLF	lung
37	chr5:145614200-145631200	Weak transcription	NH-A	brain
38	chr5:145614200-145632000	Weak transcription	HSMM	muscle
39	chr5:145615200-145626600	Strong transcription	Fetal Thymus	thymus
40	chr5:145616200-145631200	Weak transcription	HMEC	breast
41	chr5:145617000-145624400	Weak transcription	Thymus	Thymus
42	chr5:145617000-145628600	Weak transcription	Esophagus	oesophagus
43	chr5:145617200-145623600	Weak transcription	K562	blood
44	chr5:145617200-145626800	Weak transcription	Hela-S3	cervix
45	chr5:145617200-145629600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr5:145617200-145631200	Weak transcription	Rectal Smooth Muscle	rectum
47	chr5:145617400-145629200	Weak transcription	Colon Smooth Muscle	Colon
48	chr5:145617400-145631200	Weak transcription	Brain Anterior Caudate	brain
49	chr5:145617400-145631200	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr5:145617400-145648200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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