Variant report

Variant	rs60040519
Chromosome Location	chr3:52675581-52675582
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:52674237..52676462-chr3:52737613..52740110,2	K562	blood:
2	chr3:52674322..52677027-chr3:52678339..52680571,2	K562	blood:

Variant related genes	Relation type
ENSG00000016864	Chromatin interaction
ENSG00000114902	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11510435	1.00[EUR][1000 genomes]
rs12107484	1.00[EUR][1000 genomes]
rs17052357	1.00[EUR][1000 genomes]
rs17052404	1.00[EUR][1000 genomes]
rs34173244	1.00[EUR][1000 genomes]
rs4532127	1.00[EUR][1000 genomes]
rs56134416	1.00[EUR][1000 genomes]
rs56156188	1.00[EUR][1000 genomes]
rs56273828	1.00[AFR][1000 genomes]
rs56276589	1.00[EUR][1000 genomes]
rs56665533	1.00[EUR][1000 genomes]
rs56960576	0.89[AMR][1000 genomes]
rs57008939	1.00[EUR][1000 genomes]
rs57298447	1.00[EUR][1000 genomes]
rs57757646	1.00[EUR][1000 genomes]
rs57789542	1.00[EUR][1000 genomes]
rs57869735	1.00[EUR][1000 genomes]
rs57946083	1.00[EUR][1000 genomes]
rs58409398	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58528592	1.00[EUR][1000 genomes]
rs58564212	1.00[EUR][1000 genomes]
rs59638016	1.00[EUR][1000 genomes]
rs59869286	1.00[EUR][1000 genomes]
rs60058353	1.00[EUR][1000 genomes]
rs60256157	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60311166	1.00[EUR][1000 genomes]
rs60770874	1.00[EUR][1000 genomes]
rs60830326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61220667	1.00[EUR][1000 genomes]
rs61538294	1.00[EUR][1000 genomes]
rs6445536	1.00[EUR][1000 genomes]
rs6762788	1.00[EUR][1000 genomes]
rs6769720	1.00[EUR][1000 genomes]
rs6780005	0.87[EUR][1000 genomes]
rs6780397	1.00[EUR][1000 genomes]
rs72950424	1.00[EUR][1000 genomes]
rs72950432	1.00[EUR][1000 genomes]
rs72950437	1.00[EUR][1000 genomes]
rs72960212	1.00[EUR][1000 genomes]
rs72960237	1.00[EUR][1000 genomes]
rs72960240	1.00[EUR][1000 genomes]
rs72960260	1.00[EUR][1000 genomes]
rs72960274	1.00[EUR][1000 genomes]
rs72960281	1.00[EUR][1000 genomes]
rs72960285	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72965177	1.00[EUR][1000 genomes]
rs72965181	1.00[EUR][1000 genomes]
rs73837601	1.00[AFR][1000 genomes]
rs73837602	1.00[AFR][1000 genomes]
rs73837804	0.89[AMR][1000 genomes]
rs73839126	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73839129	1.00[EUR][1000 genomes]
rs73839132	1.00[AFR][1000 genomes]
rs7645785	1.00[EUR][1000 genomes]
rs764636	1.00[EUR][1000 genomes]
rs7647992	1.00[EUR][1000 genomes]
rs934839	1.00[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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52587200-52719200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:52591000-52688000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr3:52592200-52719200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:52634800-52686000	Strong transcription	Duodenum Mucosa	Duodenum
5	chr3:52636000-52703800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr3:52636000-52704000	Strong transcription	Placenta	Placenta
7	chr3:52636200-52703200	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr3:52636600-52677400	Weak transcription	Pancreas	Pancrea
9	chr3:52636800-52703600	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr3:52637200-52715800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:52640800-52684600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr3:52642400-52676400	Weak transcription	Small Intestine	intestine
13	chr3:52642600-52711200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr3:52643400-52691200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:52643600-52677200	Weak transcription	Fetal Heart	heart
16	chr3:52643800-52682800	Weak transcription	K562	blood
17	chr3:52650000-52712200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr3:52655200-52716400	Strong transcription	Fetal Thymus	thymus
19	chr3:52655600-52680200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr3:52655600-52680200	Strong transcription	Fetal Muscle Leg	muscle
21	chr3:52655800-52684600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr3:52655800-52697600	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr3:52655800-52704000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:52656000-52683200	Strong transcription	Adipose Nuclei	Adipose
25	chr3:52656600-52680200	Strong transcription	Fetal Muscle Trunk	muscle
26	chr3:52656600-52704600	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr3:52657000-52697200	Strong transcription	Liver	Liver
28	chr3:52657000-52697600	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr3:52658000-52702800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr3:52660800-52704800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr3:52664000-52677000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr3:52664400-52679800	Strong transcription	Brain Germinal Matrix	brain
33	chr3:52664600-52701600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr3:52665400-52719200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr3:52666200-52702400	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr3:52666400-52679000	Strong transcription	Fetal Intestine Small	intestine
37	chr3:52666600-52683200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr3:52667800-52675800	Weak transcription	Fetal Brain Male	brain
39	chr3:52667800-52679800	Strong transcription	Fetal Stomach	stomach
40	chr3:52669000-52675600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr3:52670200-52679800	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr3:52670400-52704600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr3:52670800-52679800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr3:52670800-52680000	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr3:52670800-52682200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr3:52670800-52682800	Strong transcription	Osteobl	bone
47	chr3:52670800-52686000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr3:52670800-52686200	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr3:52670800-52715400	Strong transcription	Dnd41	blood
50	chr3:52671000-52677800	Strong transcription	HepG2	liver

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