Variant report

Variant	rs971109
Chromosome Location	chr3:105547361-105547362
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	chr3:105546357..105547931-chr3:105552831..105554477,2	K562	blood:
2	chr3:105538204..105540971-chr3:105547311..105549205,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs12054270	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12487349	0.84[ASN][1000 genomes]
rs12493071	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12493771	0.81[ASN][1000 genomes]
rs1443100	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16851512	1.00[CEU][hapmap];0.92[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16851553	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16851673	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16851707	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1814078	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1867194	1.00[CEU][hapmap];0.82[CHB][hapmap];0.91[JPT][hapmap];0.85[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2028598	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2028599	0.82[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2055558	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2055559	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2120103	1.00[CEU][hapmap];0.92[AMR][1000 genomes]
rs2120104	0.90[ASN][1000 genomes]
rs2301028	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2301034	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2301035	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3213928	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34360428	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35909361	0.93[ASN][1000 genomes]
rs3772517	0.93[ASN][1000 genomes]
rs3772522	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3772525	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3821490	0.82[CHB][hapmap];0.83[JPT][hapmap];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4431143	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4469007	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4894956	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62255570	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62255571	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62255572	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62255573	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62255575	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62256353	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62258160	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62261460	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62261462	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62261487	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62261489	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62261491	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62261492	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62261493	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62261495	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62261496	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62261497	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62261498	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62261499	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62261538	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62261539	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62263056	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62263057	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62263059	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62263169	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62263170	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62264260	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6809776	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7619706	1.00[CEU][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7628896	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7631219	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7641527	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7650046	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs964173	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9657903	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9657924	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9849559	0.90[ASN][1000 genomes]
rs9856147	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	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:106 , 50 per page) page: 1 2 3

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	chr3:105528400-105553600	Weak transcription	Fetal Kidney	kidney
5	chr3:105532200-105563000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:105533600-105560600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr3:105533800-105570000	Weak transcription	Dnd41	blood
8	chr3:105534200-105566200	Weak transcription	Brain Germinal Matrix	brain
9	chr3:105535600-105553800	Weak transcription	Fetal Brain Male	brain
10	chr3:105539400-105551600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:105540800-105569600	Weak transcription	Fetal Thymus	thymus
12	chr3:105541000-105554400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr3:105541400-105548000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr3:105541800-105553600	Weak transcription	Fetal Brain Female	brain
15	chr3:105542200-105553600	Weak transcription	Liver	Liver
16	chr3:105542200-105554000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr3:105542400-105548200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr3:105542600-105548200	Weak transcription	Pancreas	Pancrea
19	chr3:105542600-105555400	Weak transcription	Brain Angular Gyrus	brain
20	chr3:105542600-105566000	Weak transcription	Fetal Stomach	stomach
21	chr3:105542800-105554400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr3:105543000-105555600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:105543200-105548400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr3:105543200-105550200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr3:105543200-105551600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr3:105543400-105548200	Weak transcription	Colon Smooth Muscle	Colon
27	chr3:105543400-105548800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr3:105543400-105548800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr3:105543400-105555800	Weak transcription	HepG2	liver
30	chr3:105543400-105560800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr3:105543400-105581200	Weak transcription	Gastric	stomach
32	chr3:105543600-105551000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr3:105543600-105557200	Weak transcription	Fetal Intestine Large	intestine
34	chr3:105543800-105548200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr3:105543800-105549600	Weak transcription	HSMM	muscle
36	chr3:105543800-105551400	Weak transcription	HSMMtube	muscle
37	chr3:105543800-105571000	Weak transcription	Lung	lung
38	chr3:105544000-105548800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr3:105544000-105554400	Weak transcription	Fetal Lung	lung
40	chr3:105544200-105548200	Weak transcription	Right Ventricle	heart
41	chr3:105544200-105554400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr3:105544200-105559200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr3:105544200-105584600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr3:105545000-105548400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr3:105545400-105553000	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr3:105545600-105547600	Weak transcription	Primary B cells from cord blood	blood
47	chr3:105545600-105550000	Genic enhancers	Osteobl	bone
48	chr3:105545800-105548400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr3:105545800-105551800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr3:105546000-105552400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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