Variant report

Variant	rs57401769
Chromosome Location	chr3:52669336-52669337
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:52651986..52653955-chr3:52666537..52669431,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs17052269	1.00[AMR][1000 genomes]
rs17052322	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17052355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17052424	0.85[AFR][1000 genomes]
rs1971811	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41415947	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56815357	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57440640	1.00[AMR][1000 genomes]
rs57607481	0.88[AFR][1000 genomes]
rs57931767	0.85[AFR][1000 genomes]
rs58242587	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59078569	0.81[AFR][1000 genomes]
rs59410274	0.81[AFR][1000 genomes]
rs59789322	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60351358	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60404983	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60832323	1.00[AMR][1000 genomes]
rs61418167	0.81[AFR][1000 genomes]
rs61484330	1.00[AMR][1000 genomes]
rs6767229	0.91[AFR][1000 genomes]
rs6779626	0.94[AFR][1000 genomes]
rs6796577	0.88[AFR][1000 genomes]
rs6803865	0.91[AFR][1000 genomes]
rs6809065	0.88[AFR][1000 genomes]
rs7615320	0.83[AFR][1000 genomes]
rs7616059	0.93[AFR][1000 genomes]
rs7649820	0.94[AFR][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	chr3:52636600-52673600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:52636600-52677400	Weak transcription	Pancreas	Pancrea
10	chr3:52636800-52703600	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr3:52637200-52715800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:52639600-52670000	Strong transcription	Dnd41	blood
13	chr3:52640800-52684600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr3:52641000-52670800	Weak transcription	Stomach Mucosa	stomach
15	chr3:52642400-52671000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr3:52642400-52676400	Weak transcription	Small Intestine	intestine
17	chr3:52642600-52711200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr3:52643400-52691200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:52643600-52677200	Weak transcription	Fetal Heart	heart
20	chr3:52643800-52682800	Weak transcription	K562	blood
21	chr3:52649800-52669800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:52650000-52712200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr3:52652800-52672400	Weak transcription	Gastric	stomach
24	chr3:52652800-52673600	Weak transcription	Aorta	Aorta
25	chr3:52653000-52671400	Weak transcription	Spleen	Spleen
26	chr3:52654000-52669600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr3:52655200-52716400	Strong transcription	Fetal Thymus	thymus
28	chr3:52655600-52669400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:52655600-52680200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr3:52655600-52680200	Strong transcription	Fetal Muscle Leg	muscle
31	chr3:52655800-52684600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr3:52655800-52697600	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr3:52655800-52704000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr3:52656000-52683200	Strong transcription	Adipose Nuclei	Adipose
35	chr3:52656400-52669400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr3:52656600-52680200	Strong transcription	Fetal Muscle Trunk	muscle
37	chr3:52656600-52704600	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr3:52657000-52697200	Strong transcription	Liver	Liver
39	chr3:52657000-52697600	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr3:52657400-52669400	Strong transcription	Fetal Intestine Large	intestine
41	chr3:52657800-52669800	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr3:52658000-52702800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr3:52658400-52673600	Weak transcription	A549	lung
44	chr3:52658800-52671400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr3:52659000-52671400	Weak transcription	Esophagus	oesophagus
46	chr3:52659000-52673400	Weak transcription	Brain Substantia Nigra	brain
47	chr3:52659000-52673400	Weak transcription	Psoas Muscle	Psoas
48	chr3:52660800-52672600	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr3:52660800-52673400	Weak transcription	Brain Angular Gyrus	brain
50	chr3:52660800-52704800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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