Variant report

Variant	rs72621998
Chromosome Location	chr4:175217673-175217674
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10434410	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10520278	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10520279	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13122347	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13134635	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13137178	0.81[ASN][1000 genomes]
rs1396193	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17060404	0.81[ASN][1000 genomes]
rs17060428	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17060454	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35190385	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35593724	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36081616	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62335793	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62335798	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66919862	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6840664	0.81[ASN][1000 genomes]
rs7671444	0.81[ASN][1000 genomes]
rs7684619	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7696841	0.81[ASN][1000 genomes]
rs906569	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9715080	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016910	chr4:174952788-175349057	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv537363	chr4:174952788-175349057	Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv881449	chr4:174984230-175225452	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv596234	chr4:175053051-175361437	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175205600-175241600	Weak transcription	Small Intestine	intestine
2	chr4:175206000-175235000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr4:175206200-175241000	Weak transcription	Right Ventricle	heart
4	chr4:175206400-175221800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr4:175206400-175228200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:175206600-175237800	Weak transcription	Osteobl	bone
7	chr4:175206800-175229200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr4:175206800-175241800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr4:175207000-175239000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:175207000-175240000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr4:175207000-175242000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr4:175207600-175220800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr4:175214200-175239200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr4:175214600-175219600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:175214600-175219800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:175214600-175220000	Weak transcription	Liver	Liver
17	chr4:175214600-175220200	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr4:175214600-175220200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr4:175214600-175220200	Weak transcription	Fetal Thymus	thymus
20	chr4:175214600-175220200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr4:175214600-175220400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:175214600-175220400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr4:175214600-175220600	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr4:175214600-175220800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr4:175214600-175220800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr4:175214600-175220800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr4:175214600-175224400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr4:175214600-175224800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr4:175214600-175226400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr4:175214600-175228400	Weak transcription	Left Ventricle	heart
31	chr4:175214600-175229000	Weak transcription	Fetal Muscle Leg	muscle
32	chr4:175214600-175230000	Weak transcription	Fetal Lung	lung
33	chr4:175214600-175230200	Weak transcription	Fetal Brain Male	brain
34	chr4:175214600-175233600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr4:175214600-175236000	Weak transcription	A549	lung
36	chr4:175214600-175237200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr4:175214600-175237400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:175214600-175238000	Weak transcription	HMEC	breast
39	chr4:175214600-175238400	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr4:175214600-175238800	Weak transcription	Aorta	Aorta
41	chr4:175214600-175239000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr4:175214600-175239000	Weak transcription	HepG2	liver
43	chr4:175214600-175240000	Weak transcription	Colon Smooth Muscle	Colon
44	chr4:175214600-175240200	Weak transcription	Brain Angular Gyrus	brain
45	chr4:175214600-175240600	Weak transcription	Fetal Stomach	stomach
46	chr4:175214600-175241600	Weak transcription	Lung	lung
47	chr4:175214600-175241600	Weak transcription	Thymus	Thymus
48	chr4:175214600-175241800	Weak transcription	Pancreas	Pancrea
49	chr4:175214600-175242000	Weak transcription	Brain Substantia Nigra	brain
50	chr4:175214600-175243200	Weak transcription	Ovary	ovary

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