Variant report

Variant	rs2293150
Chromosome Location	chr3:150285664-150285665
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:150284502-150286496	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:150283998..150287154-chr3:150289329..150292174,4	K562	blood:
2	chr3:150284261..150285937-chr3:150290145..150291661,2	MCF-7	breast:

Variant related genes	Relation type
EIF2A	TF binding region
ENSG00000144895	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11548666	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11921309	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11922033	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11924919	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11927175	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11927998	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11929205	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12107730	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17214539	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17214746	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17440940	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1915945	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1965473	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2030530	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2293151	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55707430	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55723846	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56208302	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56217437	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59885545	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60142519	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61019785	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61667461	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73001317	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73001332	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73001341	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73001347	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73001362	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73001363	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73001365	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73003042	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7430992	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7650013	0.96[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	nsv532662	chr3:150180747-150633414	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150265200-150299400	Weak transcription	Esophagus	oesophagus
2	chr3:150265200-150302800	Weak transcription	Gastric	stomach
3	chr3:150265400-150305800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr3:150265600-150293400	Weak transcription	Aorta	Aorta
5	chr3:150265600-150294000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:150265600-150304200	Weak transcription	Fetal Brain Male	brain
7	chr3:150265600-150320600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:150265600-150320600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr3:150266000-150304600	Weak transcription	Fetal Heart	heart
10	chr3:150266000-150307600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr3:150266400-150293400	Weak transcription	Psoas Muscle	Psoas
12	chr3:150266400-150302200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr3:150268600-150304000	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr3:150272400-150293800	Weak transcription	Small Intestine	intestine
15	chr3:150272800-150286400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr3:150272800-150290400	Strong transcription	Dnd41	blood
17	chr3:150274000-150286400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr3:150274000-150287400	Weak transcription	Brain Germinal Matrix	brain
19	chr3:150274000-150288200	Weak transcription	Lung	lung
20	chr3:150274000-150288200	Weak transcription	Spleen	Spleen
21	chr3:150274000-150288600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr3:150274000-150289600	Weak transcription	Thymus	Thymus
23	chr3:150274000-150293400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr3:150274000-150293600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr3:150274000-150303000	Weak transcription	Pancreas	Pancrea
26	chr3:150274200-150293600	Weak transcription	Brain Substantia Nigra	brain
27	chr3:150274400-150293400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr3:150274800-150285800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr3:150274800-150300600	Weak transcription	Stomach Mucosa	stomach
30	chr3:150275400-150286400	Weak transcription	Fetal Stomach	stomach
31	chr3:150277200-150305200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr3:150277400-150293800	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr3:150278000-150306800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr3:150278200-150304800	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr3:150278400-150306400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr3:150279000-150290800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr3:150279400-150288800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr3:150279400-150290400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr3:150279400-150290600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr3:150279400-150303800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr3:150279600-150288600	Strong transcription	HSMM	muscle
42	chr3:150279800-150290600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr3:150279800-150291400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr3:150280000-150286400	Weak transcription	Fetal Intestine Small	intestine
45	chr3:150280000-150304800	Strong transcription	Fetal Thymus	thymus
46	chr3:150280200-150287600	Strong transcription	Fetal Lung	lung
47	chr3:150280200-150288200	Strong transcription	Hela-S3	cervix
48	chr3:150280200-150288400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr3:150280200-150288400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr3:150280200-150290400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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