Variant report

Variant	rs60422435
Chromosome Location	chr5:112356544-112356545
allele	A/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]
rs1443688	1.00[AMR][1000 genomes]
rs1584057	1.00[AMR][1000 genomes]
rs2416308	1.00[AMR][1000 genomes]
rs2900068	1.00[AMR][1000 genomes]
rs2900069	1.00[AMR][1000 genomes]
rs56029122	0.93[AFR][1000 genomes]
rs73237148	1.00[AMR][1000 genomes]
rs73239119	1.00[AMR][1000 genomes]
rs73239122	1.00[AMR][1000 genomes]
rs73239127	1.00[AMR][1000 genomes]
rs73239158	1.00[AMR][1000 genomes]
rs73244727	1.00[AMR][1000 genomes]
rs73778907	1.00[AMR][1000 genomes]
rs73778912	1.00[AMR][1000 genomes]
rs73778915	1.00[AMR][1000 genomes]
rs73778917	1.00[AMR][1000 genomes]
rs73778920	1.00[AMR][1000 genomes]
rs73778923	1.00[AMR][1000 genomes]
rs73781500	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73783203	1.00[AMR][1000 genomes]
rs73789268	0.93[AFR][1000 genomes]
rs73789281	0.93[AFR][1000 genomes];1.00[AMR][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	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1028759	chr5:112300490-112358514	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv882717	chr5:112336588-112408944	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv964924	chr5:112353388-112356719	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112314200-112356800	Weak transcription	Stomach Mucosa	stomach
2	chr5:112314200-112362600	Weak transcription	Colonic Mucosa	Colon
3	chr5:112315600-112362600	Weak transcription	Brain Angular Gyrus	brain
4	chr5:112317800-112366200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:112318400-112365600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr5:112319800-112363800	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr5:112320000-112364200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:112320600-112362600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:112321200-112364800	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:112321400-112363800	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr5:112322600-112362400	Weak transcription	Psoas Muscle	Psoas
12	chr5:112322800-112362400	Weak transcription	Esophagus	oesophagus
13	chr5:112324800-112369800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:112327800-112364600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:112329400-112356800	Strong transcription	Primary B cells from peripheral blood	blood
16	chr5:112330200-112362800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:112332400-112372600	Weak transcription	Fetal Brain Male	brain
18	chr5:112333000-112359800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr5:112333200-112362400	Weak transcription	Right Ventricle	heart
20	chr5:112334000-112365200	Strong transcription	Placenta	Placenta
21	chr5:112338600-112360800	Weak transcription	Aorta	Aorta
22	chr5:112339200-112362400	Weak transcription	Pancreas	Pancrea
23	chr5:112339400-112356600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr5:112339400-112362000	Weak transcription	Gastric	stomach
25	chr5:112340400-112362400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr5:112340400-112362600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr5:112340400-112362600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr5:112341600-112357600	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr5:112342200-112362600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr5:112343200-112357000	Strong transcription	Primary B cells from cord blood	blood
31	chr5:112343200-112357000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:112349800-112359600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr5:112349800-112362400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr5:112349800-112366600	Weak transcription	Colon Smooth Muscle	Colon
35	chr5:112350000-112360600	Weak transcription	Fetal Intestine Small	intestine
36	chr5:112350200-112358000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr5:112350200-112361400	Weak transcription	Brain Substantia Nigra	brain
38	chr5:112350200-112361400	Weak transcription	Lung	lung
39	chr5:112350200-112361400	Weak transcription	Ovary	ovary
40	chr5:112350200-112362000	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr5:112350200-112362600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr5:112350200-112362600	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr5:112350200-112362600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr5:112350200-112362600	Weak transcription	Brain Anterior Caudate	brain
45	chr5:112350200-112362800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr5:112350400-112358400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr5:112350400-112359800	Weak transcription	Left Ventricle	heart
48	chr5:112350400-112360800	Weak transcription	Fetal Intestine Large	intestine
49	chr5:112350400-112361000	Weak transcription	Fetal Stomach	stomach
50	chr5:112350400-112361400	Weak transcription	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links