Variant report

Variant	rs56209204
Chromosome Location	chr4:56820230-56820231
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12498836	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12506140	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12512313	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13129724	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13135276	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13138432	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34065759	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34558195	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35032869	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35282347	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35869805	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35921148	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4864566	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4865044	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4865047	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6856844	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs71601608	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71601613	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9312669	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][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	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv10496	chr4:56336946-56841137	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv1005845	chr4:56522075-56980357	Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	esv3406311	chr4:56580578-56840877	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv427681	chr4:56651921-56908209	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56815800-56839200	Weak transcription	Esophagus	oesophagus
2	chr4:56815800-56875000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:56816000-56821000	Weak transcription	Aorta	Aorta
4	chr4:56816000-56821400	Weak transcription	Psoas Muscle	Psoas
5	chr4:56816000-56823200	Weak transcription	Left Ventricle	heart
6	chr4:56816000-56824600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:56816000-56833400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr4:56816200-56821000	Weak transcription	Lung	lung
9	chr4:56816200-56821200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr4:56816200-56822800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr4:56816200-56839400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr4:56816200-56846600	Weak transcription	Right Ventricle	heart
13	chr4:56816200-56873400	Weak transcription	Pancreas	Pancrea
14	chr4:56816200-56884200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr4:56816200-56887800	Weak transcription	Gastric	stomach
16	chr4:56816400-56822800	Weak transcription	Fetal Intestine Small	intestine
17	chr4:56816400-56826400	Weak transcription	Brain Anterior Caudate	brain
18	chr4:56816400-56827000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr4:56816400-56866000	Weak transcription	Spleen	Spleen
20	chr4:56816400-56890800	Weak transcription	Colon Smooth Muscle	Colon
21	chr4:56816600-56820400	Weak transcription	Fetal Muscle Leg	muscle
22	chr4:56816600-56821400	Weak transcription	Adipose Nuclei	Adipose
23	chr4:56816600-56821400	Weak transcription	Fetal Brain Male	brain
24	chr4:56816600-56821600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr4:56816600-56822800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr4:56816600-56823000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr4:56816600-56823200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr4:56816600-56823600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr4:56816600-56829800	Weak transcription	Colonic Mucosa	Colon
30	chr4:56816600-56831800	Weak transcription	Fetal Lung	lung
31	chr4:56816600-56834000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr4:56816600-56851800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr4:56816600-56852000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr4:56816600-56865800	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr4:56816600-56890600	Weak transcription	Brain Hippocampus Middle	brain
36	chr4:56816600-56896400	Weak transcription	Fetal Heart	heart
37	chr4:56816800-56820800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr4:56816800-56820800	Weak transcription	Fetal Stomach	stomach
39	chr4:56816800-56821000	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr4:56816800-56821000	Weak transcription	Brain Germinal Matrix	brain
41	chr4:56816800-56821000	Weak transcription	Thymus	Thymus
42	chr4:56816800-56821200	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr4:56816800-56821400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr4:56816800-56821400	Weak transcription	Fetal Brain Female	brain
45	chr4:56816800-56831400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:56816800-56865800	Weak transcription	Small Intestine	intestine
47	chr4:56816800-56869800	Weak transcription	HepG2	liver
48	chr4:56817200-56820400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr4:56817200-56823000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr4:56817400-56821200	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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