Variant report

Variant	rs3747730
Chromosome Location	chr5:5475858-5475859
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11738931	0.89[TSI][hapmap]
rs16875617	0.94[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.99[ASN][1000 genomes]
rs16875618	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.99[ASN][1000 genomes]
rs16900247	0.88[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs2306349	0.82[CEU][hapmap]
rs3806873	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[ASN][1000 genomes]
rs3806874	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[ASN][1000 genomes]
rs4283757	0.81[JPT][hapmap]
rs73736664	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757981	chr5:5447098-5764620	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	esv2759319	chr5:5447098-5764620	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5430200-5478800	Weak transcription	Stomach Mucosa	stomach
2	chr5:5433400-5495200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:5436600-5478200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr5:5437200-5477000	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr5:5437400-5480000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:5458600-5495000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:5460000-5481600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr5:5462400-5494600	Weak transcription	Colonic Mucosa	Colon
9	chr5:5463000-5493800	Weak transcription	Fetal Heart	heart
10	chr5:5463400-5480800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr5:5463800-5483600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr5:5464400-5476600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:5465200-5476600	Weak transcription	Spleen	Spleen
14	chr5:5465200-5482600	Weak transcription	Gastric	stomach
15	chr5:5465200-5493800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr5:5465200-5495000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr5:5465400-5476600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr5:5467000-5476400	Weak transcription	Brain Germinal Matrix	brain
19	chr5:5467600-5488800	Weak transcription	Brain Substantia Nigra	brain
20	chr5:5468000-5494000	Weak transcription	Fetal Brain Male	brain
21	chr5:5468400-5476600	Weak transcription	Psoas Muscle	Psoas
22	chr5:5468400-5480800	Weak transcription	NHEK	skin
23	chr5:5468800-5479600	Weak transcription	K562	blood
24	chr5:5470400-5492600	Weak transcription	Colon Smooth Muscle	Colon
25	chr5:5471800-5476600	Strong transcription	Primary B cells from cord blood	blood
26	chr5:5472000-5479200	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr5:5472000-5480200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:5472200-5477000	Strong transcription	Hela-S3	cervix
29	chr5:5472200-5478400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr5:5472400-5477200	Strong transcription	HSMM	muscle
31	chr5:5472400-5478200	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr5:5472400-5478600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr5:5472600-5477200	Strong transcription	Primary B cells from peripheral blood	blood
34	chr5:5472600-5477200	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr5:5472600-5479000	Strong transcription	Adipose Nuclei	Adipose
36	chr5:5472600-5479200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr5:5472600-5480200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:5472800-5477000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr5:5472800-5477400	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr5:5472800-5478200	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr5:5472800-5490600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr5:5473000-5476800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr5:5473000-5477000	Strong transcription	HUVEC	blood vessel
44	chr5:5473000-5477600	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr5:5473000-5478200	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr5:5473000-5478400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr5:5473000-5479200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr5:5473400-5476200	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr5:5473400-5477000	Strong transcription	Dnd41	blood
50	chr5:5473400-5477800	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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