Variant report

Variant	rs73830704
Chromosome Location	chr3:49337121-49337122
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs11130201	0.89[AFR][1000 genomes]
rs11717485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1522929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1568663	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17080495	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17080510	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17080567	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17080664	0.92[AFR][1000 genomes]
rs1996874	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2131107	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2311794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2311801	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2329024	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28615670	1.00[EUR][1000 genomes]
rs3870334	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3870340	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3912831	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4241409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4452334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4527417	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4855856	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4855857	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4855870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4855872	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4855874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4855875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4855876	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4855878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4855879	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55677747	0.81[AFR][1000 genomes]
rs55808753	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55990645	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56101322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56760510	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56897974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58998762	1.00[EUR][1000 genomes]
rs59579780	0.86[AFR][1000 genomes]
rs60011446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61008775	1.00[EUR][1000 genomes]
rs61744082	1.00[EUR][1000 genomes]
rs61749312	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6446269	0.97[AFR][1000 genomes]
rs6446270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6446271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6446273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6446276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6446278	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6446279	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6446280	0.92[AFR][1000 genomes]
rs6446281	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6446282	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6446283	1.00[EUR][1000 genomes]
rs6766297	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6787665	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6793124	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6797164	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72934791	1.00[EUR][1000 genomes]
rs72936804	1.00[EUR][1000 genomes]
rs72936810	1.00[EUR][1000 genomes]
rs72936890	1.00[EUR][1000 genomes]
rs73830703	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73830705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73830706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73831434	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73831435	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73831436	1.00[EUR][1000 genomes]
rs73831437	1.00[EUR][1000 genomes]
rs73831438	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73831439	0.86[AFR][1000 genomes]
rs73831440	0.86[AFR][1000 genomes]
rs73831441	0.86[AFR][1000 genomes]
rs73831442	0.92[AFR][1000 genomes]
rs73833525	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7646393	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8179172	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9311441	1.00[AFR][1000 genomes]
rs9811460	1.00[EUR][1000 genomes]
rs9814413	1.00[EUR][1000 genomes]
rs9830627	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9833422	1.00[EUR][1000 genomes]
rs9837396	1.00[EUR][1000 genomes]
rs9849446	1.00[EUR][1000 genomes]
rs9861805	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9869504	1.00[EUR][1000 genomes]
rs9875203	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9877045	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	nsv1008750	chr3:49208815-49362401	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49312600-49375800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr3:49313200-49349400	Strong transcription	Dnd41	blood
3	chr3:49313600-49349200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:49314800-49355400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr3:49314800-49364800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr3:49315200-49349600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr3:49315200-49349600	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr3:49315200-49352600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr3:49315200-49373600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr3:49315200-49375000	Strong transcription	Fetal Stomach	stomach
11	chr3:49315400-49370400	Strong transcription	Fetal Thymus	thymus
12	chr3:49315800-49349200	Strong transcription	Fetal Brain Female	brain
13	chr3:49316200-49370200	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr3:49316600-49340200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr3:49317200-49349400	Strong transcription	Duodenum Mucosa	Duodenum
16	chr3:49317200-49371800	Strong transcription	Fetal Intestine Small	intestine
17	chr3:49317400-49349200	Strong transcription	Fetal Intestine Large	intestine
18	chr3:49317400-49349600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:49317400-49369400	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr3:49317400-49370600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr3:49319200-49374800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr3:49319400-49349600	Strong transcription	Liver	Liver
23	chr3:49319600-49344000	Strong transcription	Osteobl	bone
24	chr3:49319600-49349400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr3:49319600-49371800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr3:49319800-49349200	Strong transcription	Brain Germinal Matrix	brain
27	chr3:49319800-49349400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr3:49320000-49337600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr3:49320000-49340600	Strong transcription	Placenta Amnion	Placenta Amnion
30	chr3:49320000-49349000	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr3:49320000-49349600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr3:49320200-49375000	Strong transcription	Thymus	Thymus
33	chr3:49320400-49338400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr3:49320600-49340600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr3:49320600-49351400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr3:49320800-49340200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr3:49320800-49342200	Strong transcription	Brain Inferior Temporal Lobe	brain
38	chr3:49320800-49344200	Strong transcription	Primary B cells from cord blood	blood
39	chr3:49320800-49349200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr3:49320800-49349400	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr3:49320800-49368000	Strong transcription	Primary T cells from cord blood	blood
42	chr3:49321000-49348400	Strong transcription	NH-A	brain
43	chr3:49321800-49373600	Strong transcription	Primary B cells from peripheral blood	blood
44	chr3:49326800-49373400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr3:49326800-49375000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr3:49329400-49340600	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr3:49329400-49340600	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr3:49329400-49343600	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr3:49329400-49344000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
50	chr3:49329600-49340600	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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