Variant report

Variant	rs4703803
Chromosome Location	chr5:79438705-79438706
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12518629	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13176625	1.00[JPT][hapmap]
rs1470025	0.96[CEU][hapmap];0.88[TSI][hapmap];0.91[EUR][1000 genomes]
rs2164993	0.96[CEU][hapmap];0.88[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35700898	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4703800	0.90[EUR][1000 genomes]
rs4703802	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4704615	0.93[CEU][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4704617	1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4704619	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6891705	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6893919	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432748	chr5:79300434-79577760	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4703803	SERINC5	cis	multi-tissue	Pritchard

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79421600-79438800	Weak transcription	Esophagus	oesophagus
2	chr5:79428800-79438800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr5:79432400-79449000	Weak transcription	Fetal Brain Female	brain
4	chr5:79432800-79439200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr5:79432800-79439600	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr5:79433000-79440000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr5:79433600-79476600	Weak transcription	Small Intestine	intestine
8	chr5:79434400-79439200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr5:79434600-79438800	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr5:79435200-79439000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:79435200-79447600	Strong transcription	Liver	Liver
12	chr5:79435400-79439600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr5:79435400-79439600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr5:79435400-79439600	Genic enhancers	Fetal Thymus	thymus
15	chr5:79435600-79440400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr5:79435800-79440000	Genic enhancers	Primary T cells fromperipheralblood	blood
17	chr5:79435800-79440600	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:79435800-79453600	Strong transcription	Fetal Intestine Small	intestine
19	chr5:79436000-79439000	Weak transcription	Colonic Mucosa	Colon
20	chr5:79436000-79441800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr5:79436400-79439400	Genic enhancers	HUES64 Cell Line	embryonic stem cell
22	chr5:79436400-79439800	Enhancers	Fetal Heart	heart
23	chr5:79436400-79440800	Enhancers	Brain Hippocampus Middle	brain
24	chr5:79436600-79438800	Enhancers	Brain Cingulate Gyrus	brain
25	chr5:79436600-79439000	Enhancers	Brain Substantia Nigra	brain
26	chr5:79436600-79439200	Genic enhancers	Fetal Stomach	stomach
27	chr5:79436600-79439800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:79436600-79447400	Weak transcription	Stomach Mucosa	stomach
29	chr5:79436600-79448200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
30	chr5:79436800-79440600	Enhancers	Primary B cells from cord blood	blood
31	chr5:79437000-79438800	Enhancers	Fetal Muscle Trunk	muscle
32	chr5:79437000-79438800	Enhancers	Left Ventricle	heart
33	chr5:79437000-79439000	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr5:79437000-79439400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
35	chr5:79437000-79439600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr5:79437000-79439600	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr5:79437000-79439600	Enhancers	Ovary	ovary
38	chr5:79437000-79448200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr5:79437000-79448200	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr5:79437200-79438800	Enhancers	HSMMtube	muscle
41	chr5:79437200-79440800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
42	chr5:79437200-79443200	Weak transcription	Aorta	Aorta
43	chr5:79437200-79448000	Strong transcription	Dnd41	blood
44	chr5:79437400-79439400	Weak transcription	Gastric	stomach
45	chr5:79437400-79441600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr5:79437400-79448000	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr5:79437600-79438800	Weak transcription	Lung	lung
48	chr5:79437600-79438800	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr5:79437600-79439000	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr5:79437600-79439200	Enhancers	Skeletal Muscle Female	skeletal muscle

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