Variant report

Variant	rs56347383
Chromosome Location	chr5:112397011-112397012
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11742162	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6865320	0.84[ASN][1000 genomes]
rs7726899	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
3	esv15902	chr5:112369563-112410775	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv599395	chr5:112370311-112428869	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1018344	chr5:112390951-112458853	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1032798	chr5:112392380-112408177	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs56347383	DCP2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112363800-112399000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:112363800-112409200	Weak transcription	Colonic Mucosa	Colon
3	chr5:112363800-112417800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr5:112370200-112406600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:112371400-112423800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:112373000-112398800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr5:112373200-112399000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr5:112375000-112402600	Weak transcription	Pancreas	Pancrea
9	chr5:112379600-112399600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:112379600-112424200	Weak transcription	Psoas Muscle	Psoas
11	chr5:112383200-112409400	Strong transcription	Liver	Liver
12	chr5:112384000-112453000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr5:112384200-112411000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr5:112384600-112398400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr5:112384600-112398800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr5:112384800-112399000	Weak transcription	Aorta	Aorta
17	chr5:112386000-112397200	Weak transcription	Fetal Heart	heart
18	chr5:112388400-112398800	Weak transcription	Colon Smooth Muscle	Colon
19	chr5:112388600-112397200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:112388800-112402400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:112390000-112397800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr5:112390600-112402400	Weak transcription	Spleen	Spleen
23	chr5:112390800-112410800	Weak transcription	Fetal Intestine Small	intestine
24	chr5:112391200-112398400	Weak transcription	Right Ventricle	heart
25	chr5:112391600-112439000	Weak transcription	Gastric	stomach
26	chr5:112392600-112397600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr5:112392800-112399000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:112393600-112400200	Weak transcription	Placenta	Placenta
29	chr5:112394000-112398000	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr5:112394000-112399200	Weak transcription	Ovary	ovary
31	chr5:112394000-112399400	Enhancers	Fetal Thymus	thymus
32	chr5:112394200-112397400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr5:112394200-112397800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:112394400-112397600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr5:112394400-112397600	Enhancers	NH-A	brain
36	chr5:112394600-112397200	Enhancers	HSMMtube	muscle
37	chr5:112394600-112397400	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr5:112394600-112397600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr5:112394600-112399000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr5:112394800-112397400	Enhancers	Osteobl	bone
41	chr5:112394800-112397800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr5:112394800-112397800	Enhancers	Primary T cells from cord blood	blood
43	chr5:112394800-112400800	Strong transcription	Esophagus	oesophagus
44	chr5:112395000-112411600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr5:112395400-112398200	Weak transcription	Primary hematopoietic stem cells	blood
46	chr5:112395400-112399000	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr5:112395600-112397600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr5:112395600-112397600	Weak transcription	Fetal Brain Female	brain
49	chr5:112395600-112397800	Weak transcription	Brain Hippocampus Middle	brain
50	chr5:112395600-112398400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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