Variant report

Variant	rs57607481
Chromosome Location	chr3:52794561-52794562
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1344932	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17052322	0.85[AFR][1000 genomes]
rs17052355	0.88[AFR][1000 genomes]
rs17052424	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17052427	1.00[AMR][1000 genomes]
rs1971811	0.88[AFR][1000 genomes]
rs2079928	1.00[AMR][1000 genomes]
rs41415947	0.88[AFR][1000 genomes]
rs56815357	0.85[AFR][1000 genomes]
rs57401769	0.88[AFR][1000 genomes]
rs57522359	1.00[AMR][1000 genomes]
rs57787182	0.81[AFR][1000 genomes]
rs57931767	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58057636	1.00[AMR][1000 genomes]
rs59182119	1.00[AMR][1000 genomes]
rs59789322	0.82[AFR][1000 genomes]
rs60133283	1.00[AMR][1000 genomes]
rs60351358	0.94[AFR][1000 genomes]
rs60945641	1.00[AMR][1000 genomes]
rs61229218	0.83[AMR][1000 genomes]
rs6767229	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6779626	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6796577	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6803865	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6809065	0.88[AFR][1000 genomes]
rs72960294	0.81[AFR][1000 genomes]
rs72960298	1.00[AMR][1000 genomes]
rs7615320	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7616059	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7649820	0.94[AFR][1000 genomes];1.00[AMR][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	nsv984563	chr3:52516115-52867075	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv508219	chr3:52741193-52803899	Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv834698	chr3:52749983-52928219	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
4	esv2762328	chr3:52774884-53002150	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	esv3446915	chr3:52786850-53049217	Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 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	chr3:52741600-52804000	Weak transcription	Psoas Muscle	Psoas
2	chr3:52761600-52802400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr3:52763800-52802600	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr3:52764000-52800200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr3:52764000-52802800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr3:52764400-52802600	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr3:52765400-52800400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr3:52766400-52802600	Strong transcription	Fetal Thymus	thymus
9	chr3:52767600-52802600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr3:52767600-52803400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr3:52767800-52800600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr3:52768000-52803600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr3:52768400-52797200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:52768800-52803000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:52770200-52797200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr3:52771200-52800800	Strong transcription	Fetal Lung	lung
17	chr3:52772600-52794800	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr3:52774000-52803400	Weak transcription	K562	blood
19	chr3:52775200-52800600	Strong transcription	Stomach Smooth Muscle	stomach
20	chr3:52775200-52802600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr3:52775800-52802800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:52775800-52802800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:52778400-52802400	Strong transcription	Liver	Liver
24	chr3:52781000-52796000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr3:52781000-52799000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr3:52782600-52801000	Strong transcription	Dnd41	blood
27	chr3:52783200-52803800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr3:52784800-52804000	Weak transcription	Aorta	Aorta
29	chr3:52785400-52797800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr3:52786000-52802000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr3:52786200-52798800	Weak transcription	HMEC	breast
32	chr3:52786200-52803600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr3:52786400-52803600	Weak transcription	Stomach Mucosa	stomach
34	chr3:52786400-52803800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:52786600-52795800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr3:52786600-52802600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr3:52786800-52802600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr3:52786800-52802600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr3:52787400-52796000	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr3:52787400-52796000	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr3:52787400-52797000	Weak transcription	HUVEC	blood vessel
42	chr3:52787600-52803600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr3:52787600-52803600	Weak transcription	Colonic Mucosa	Colon
44	chr3:52787800-52798800	Weak transcription	NHEK	skin
45	chr3:52787800-52803600	Weak transcription	Gastric	stomach
46	chr3:52787800-52804000	Weak transcription	Right Ventricle	heart
47	chr3:52788000-52798400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr3:52788200-52802600	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr3:52788200-52803000	Weak transcription	Pancreas	Pancrea
50	chr3:52788200-52803600	Weak transcription	Esophagus	oesophagus

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