Variant report

Variant	rs12233614
Chromosome Location	chr3:43146515-43146516
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:43142624..43144798-chr3:43145061..43147327,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1072822	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11129992	0.83[ASN][1000 genomes]
rs12485530	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12485578	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12487785	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12497427	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12497602	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1523125	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1523126	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1566422	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17391761	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17470089	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1815070	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1949583	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1949584	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs488069	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55764298	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55819365	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55945909	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55954171	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57507574	0.87[AFR][1000 genomes]
rs604033	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6796161	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv460522	chr3:42967597-43175207	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv590149	chr3:42967597-43175207	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv834672	chr3:43132722-43306272	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43123000-43146600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr3:43123600-43146600	Weak transcription	Fetal Intestine Small	intestine
3	chr3:43124400-43146600	Weak transcription	Aorta	Aorta
4	chr3:43124600-43146800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr3:43136800-43146600	Weak transcription	Esophagus	oesophagus
6	chr3:43143200-43146600	Enhancers	Placenta	Placenta
7	chr3:43143400-43146600	Enhancers	Left Ventricle	heart
8	chr3:43143800-43146800	Enhancers	Fetal Heart	heart
9	chr3:43144200-43146600	Enhancers	Right Atrium	heart
10	chr3:43144400-43146600	Enhancers	Right Ventricle	heart
11	chr3:43145000-43146600	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr3:43145600-43146600	Enhancers	Primary T cells fromperipheralblood	blood
13	chr3:43145600-43146600	Enhancers	Fetal Thymus	thymus
14	chr3:43145800-43146600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr3:43145800-43146600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr3:43145800-43146800	Flanking Active TSS	Brain Angular Gyrus	brain
17	chr3:43145800-43146800	Flanking Active TSS	Brain Anterior Caudate	brain
18	chr3:43145800-43146800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
19	chr3:43145800-43147000	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr3:43145800-43147800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:43146000-43146600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr3:43146000-43146600	Enhancers	Gastric	stomach
23	chr3:43146000-43146600	Enhancers	Spleen	Spleen
24	chr3:43146000-43146800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr3:43146000-43146800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr3:43146000-43146800	Flanking Active TSS	Brain Cingulate Gyrus	brain
27	chr3:43146000-43146800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr3:43146000-43146800	Flanking Active TSS	Fetal Brain Female	brain
29	chr3:43146000-43146800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr3:43146000-43147000	Flanking Active TSS	Brain Germinal Matrix	brain
31	chr3:43146000-43147000	Flanking Active TSS	Dnd41	blood
32	chr3:43146000-43147200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr3:43146200-43146600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr3:43146200-43146600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr3:43146200-43146600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr3:43146200-43146600	Enhancers	Primary B cells from peripheral blood	blood
37	chr3:43146200-43146600	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr3:43146200-43146600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr3:43146200-43146600	Enhancers	Liver	Liver
40	chr3:43146200-43146600	Active TSS	Fetal Intestine Large	intestine
41	chr3:43146200-43146600	Flanking Active TSS	Rectal Smooth Muscle	rectum
42	chr3:43146200-43146800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr3:43146200-43146800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr3:43146200-43146800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr3:43146200-43146800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr3:43146200-43146800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr3:43146200-43146800	Flanking Active TSS	Brain Hippocampus Middle	brain
48	chr3:43146200-43146800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr3:43146200-43146800	Flanking Active TSS	Fetal Brain Male	brain
50	chr3:43146200-43146800	Flanking Active TSS	Ovary	ovary

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