Variant report

Variant	rs33992630
Chromosome Location	chr5:112903169-112903170
allele	A/G
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:59)

rs_ID	r²[population]
rs10053341	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10056194	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10065790	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10071684	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10072503	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10077431	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10078214	1.00[ASN][1000 genomes]
rs11241213	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13154300	0.81[ASN][1000 genomes]
rs13169748	0.86[EUR][1000 genomes]
rs13171630	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13174075	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13174206	0.81[ASN][1000 genomes]
rs13180516	0.81[ASN][1000 genomes]
rs13181732	0.81[ASN][1000 genomes]
rs13182972	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13187823	0.81[ASN][1000 genomes]
rs13362189	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13436825	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17327964	0.81[ASN][1000 genomes]
rs17331844	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17388260	0.81[ASN][1000 genomes]
rs17389165	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17390957	0.80[AFR][1000 genomes]
rs1816062	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2162841	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2914198	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2972689	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2972690	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34147627	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34324763	0.86[ASN][1000 genomes]
rs34951736	0.81[ASN][1000 genomes]
rs35093510	0.90[ASN][1000 genomes]
rs35193208	0.87[EUR][1000 genomes]
rs35926701	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35933960	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36023163	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62373766	0.80[AFR][1000 genomes]
rs66540465	0.84[EUR][1000 genomes]
rs66572866	0.81[ASN][1000 genomes]
rs67320720	0.81[ASN][1000 genomes]
rs6867579	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6871934	0.81[ASN][1000 genomes]
rs6872490	0.86[ASN][1000 genomes]
rs6879257	0.86[EUR][1000 genomes]
rs6883547	1.00[ASN][1000 genomes]
rs6889489	0.86[ASN][1000 genomes]
rs6890874	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71577447	0.81[ASN][1000 genomes]
rs71577448	0.81[ASN][1000 genomes]
rs72792189	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7706721	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7708831	0.86[ASN][1000 genomes]
rs7714221	0.86[ASN][1000 genomes]
rs7718203	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7718616	0.81[ASN][1000 genomes]
rs8180416	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9326890	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9326891	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882720	chr5:112859994-112911165	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv882721	chr5:112859994-112963488	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv882723	chr5:112868878-112911165	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv882724	chr5:112868878-112933202	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
5	nsv1033202	chr5:112891857-112945992	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 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	chr5:112850400-112904000	Weak transcription	Psoas Muscle	Psoas
2	chr5:112850600-112908400	Weak transcription	Colonic Mucosa	Colon
3	chr5:112867000-112910000	Weak transcription	Right Ventricle	heart
4	chr5:112867200-112903400	Weak transcription	Pancreas	Pancrea
5	chr5:112867200-112904000	Weak transcription	Lung	lung
6	chr5:112867200-112904200	Weak transcription	Aorta	Aorta
7	chr5:112867200-112909800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:112867200-112909800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr5:112867200-112910000	Weak transcription	Esophagus	oesophagus
10	chr5:112867400-112926000	Weak transcription	Small Intestine	intestine
11	chr5:112867400-112933000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr5:112868600-112911400	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr5:112869200-112910000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:112870200-112930800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr5:112872000-112904000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:112872000-112915000	Weak transcription	Hela-S3	cervix
17	chr5:112873400-112908800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr5:112874000-112909600	Weak transcription	Spleen	Spleen
19	chr5:112876000-112918800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr5:112877200-112905800	Weak transcription	Fetal Stomach	stomach
21	chr5:112879600-112904200	Weak transcription	Gastric	stomach
22	chr5:112881800-112906400	Weak transcription	Fetal Intestine Small	intestine
23	chr5:112882600-112904000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr5:112882800-112909600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr5:112883000-112903200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr5:112883800-112907400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:112884200-112905200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:112884200-112905600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:112884200-112908000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr5:112886600-112911200	Strong transcription	Primary B cells from peripheral blood	blood
31	chr5:112887800-112904400	Strong transcription	Fetal Intestine Large	intestine
32	chr5:112888000-112908200	Strong transcription	Liver	Liver
33	chr5:112888800-112908400	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr5:112889400-112930600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr5:112889600-112904000	Weak transcription	Fetal Heart	heart
36	chr5:112889800-112909600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr5:112889800-112910000	Weak transcription	HSMMtube	muscle
38	chr5:112890600-112915800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr5:112891600-112906600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr5:112891600-112908200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr5:112891600-112912600	Weak transcription	Stomach Mucosa	stomach
42	chr5:112891800-112903200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr5:112892000-112906600	Strong transcription	Placenta	Placenta
44	chr5:112892800-112915000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr5:112893000-112904200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr5:112893200-112906400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr5:112894000-112904000	Weak transcription	Fetal Brain Male	brain
48	chr5:112894200-112905600	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr5:112894400-112911800	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr5:112894600-112910800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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