Variant report

Variant	rs59534462
Chromosome Location	chr3:105541105-105541106
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:105539575..105542989-chr3:105543009..105546955,3	K562	blood:
2	chr3:105535705..105538225-chr3:105539955..105541947,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10460808	0.82[EUR][1000 genomes]
rs10511246	0.89[ASN][1000 genomes]
rs1075739	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11921710	0.88[ASN][1000 genomes]
rs12633654	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12635232	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12637560	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12637809	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12639271	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1561922	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16844736	0.82[EUR][1000 genomes]
rs16851523	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16851539	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16851563	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16851570	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16851587	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16851630	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1867192	0.89[ASN][1000 genomes]
rs1947000	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1992521	0.82[EUR][1000 genomes]
rs2089091	0.89[ASN][1000 genomes]
rs2197208	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2197209	0.89[ASN][1000 genomes]
rs2301036	0.82[EUR][1000 genomes]
rs57520912	0.88[ASN][1000 genomes]
rs58340800	0.88[ASN][1000 genomes]
rs59611997	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60295307	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60619938	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6437620	0.89[ASN][1000 genomes]
rs6437621	0.89[ASN][1000 genomes]
rs73854891	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73854894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73857222	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7624400	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7629357	0.89[ASN][1000 genomes]
rs7648842	0.89[ASN][1000 genomes]
rs9631436	0.88[ASN][1000 genomes]
rs9789988	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9826886	0.89[ASN][1000 genomes]
rs9846534	0.89[ASN][1000 genomes]
rs9874600	0.89[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	nsv877309	chr3:105373836-105542435	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	esv2755185	chr3:105378310-105597310	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105483200-105555200	Weak transcription	Placenta	Placenta
2	chr3:105505000-105548200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:105511400-105566400	Weak transcription	Aorta	Aorta
4	chr3:105519200-105541600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr3:105521200-105546800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:105521400-105541200	Weak transcription	Fetal Muscle Leg	muscle
7	chr3:105521400-105542000	Weak transcription	Fetal Stomach	stomach
8	chr3:105522400-105541200	Weak transcription	Primary T cells from cord blood	blood
9	chr3:105524600-105541600	Weak transcription	Right Atrium	heart
10	chr3:105526200-105541600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr3:105526200-105542400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr3:105528400-105541600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr3:105528400-105542000	Weak transcription	Pancreas	Pancrea
14	chr3:105528400-105543200	Weak transcription	Gastric	stomach
15	chr3:105528400-105553600	Weak transcription	Fetal Kidney	kidney
16	chr3:105528600-105542600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr3:105528800-105541600	Weak transcription	Brain Hippocampus Middle	brain
18	chr3:105529000-105541600	Weak transcription	Fetal Lung	lung
19	chr3:105529000-105541800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr3:105529000-105542200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr3:105529000-105546600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr3:105530400-105541600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr3:105530400-105542000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr3:105530600-105541800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr3:105530800-105541800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr3:105531400-105546600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr3:105531600-105541800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr3:105531600-105541800	Weak transcription	HMEC	breast
29	chr3:105531600-105546400	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr3:105532200-105541800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr3:105532200-105563000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr3:105532800-105541200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr3:105532800-105542000	Weak transcription	HUVEC	blood vessel
34	chr3:105533200-105541200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr3:105533600-105560600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr3:105533800-105570000	Weak transcription	Dnd41	blood
37	chr3:105534200-105566200	Weak transcription	Brain Germinal Matrix	brain
38	chr3:105534400-105546600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr3:105535600-105553800	Weak transcription	Fetal Brain Male	brain
40	chr3:105536600-105541600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr3:105536600-105543200	Weak transcription	Right Ventricle	heart
42	chr3:105536800-105541200	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr3:105537800-105546800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr3:105538800-105545000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr3:105539200-105542000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr3:105539200-105543200	Weak transcription	Lung	lung
47	chr3:105539200-105546200	Weak transcription	Esophagus	oesophagus
48	chr3:105539400-105541200	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr3:105539400-105541600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr3:105539400-105542000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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