Variant report

Variant	rs62283994
Chromosome Location	chr3:150288802-150288803
allele	A/G
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	chr3:150288584-150288808	HepG2	liver:	n/a	n/a
2	POLR2A	chr3:150288700-150288818	MCF-7	breast:	n/a	n/a
3	POLR2A	chr3:150288730-150289113	K562	blood:	n/a	n/a
4	POLR2A	chr3:150288748-150288827	MCF-7	breast:	n/a	n/a
5	CCNT2	chr3:150288757-150288842	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:150286853..150288852-chr3:150299564..150301075,2	K562	blood:

Variant related genes	Relation type
EIF2A	TF binding region
ENSG00000120742	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs3745	0.90[EUR][1000 genomes]
rs4681208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4681636	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62269086	0.88[EUR][1000 genomes]
rs62269087	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62269088	1.00[AFR][1000 genomes]
rs62269099	1.00[AFR][1000 genomes]
rs62269100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62269102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62283992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62283993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62284023	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62284024	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62284025	1.00[AFR][1000 genomes]
rs67548051	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6794400	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6802114	0.90[EUR][1000 genomes]
rs73169829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73169833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];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	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	chr3:150272800-150290400	Strong transcription	Dnd41	blood
16	chr3:150274000-150289600	Weak transcription	Thymus	Thymus
17	chr3:150274000-150293400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr3:150274000-150293600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr3:150274000-150303000	Weak transcription	Pancreas	Pancrea
20	chr3:150274200-150293600	Weak transcription	Brain Substantia Nigra	brain
21	chr3:150274400-150293400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr3:150274800-150300600	Weak transcription	Stomach Mucosa	stomach
23	chr3:150277200-150305200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr3:150277400-150293800	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr3:150278000-150306800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:150278200-150304800	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr3:150278400-150306400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr3:150279000-150290800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr3:150279400-150290400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr3:150279400-150290600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr3:150279400-150303800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr3:150279800-150290600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr3:150279800-150291400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr3:150280000-150304800	Strong transcription	Fetal Thymus	thymus
35	chr3:150280200-150290400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:150280200-150290400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr3:150280200-150290600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr3:150280200-150292600	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr3:150280200-150304400	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr3:150280200-150304600	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr3:150280200-150304800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr3:150280200-150305000	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr3:150280200-150307800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr3:150280400-150290400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr3:150280400-150292400	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr3:150280800-150300400	Strong transcription	Liver	Liver
47	chr3:150281400-150303800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr3:150281600-150291600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr3:150281800-150290400	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr3:150281800-150291600	Strong transcription	Fetal Intestine Large	intestine

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