Variant report

Variant	rs62269100
Chromosome Location	chr3:150269922-150269923
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	chr3:150269732-150270120	K562	blood:	n/a	n/a
2	STAT3	chr3:150269914-150270107	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr3:150269479-150270283	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:150264211..150267828-chr3:150269131..150272633,7	MCF-7	breast:

Variant related genes	Relation type
EIF2A	TF binding region
ENSG00000120742	Chromatin interaction
ENSG00000144895	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	0.88[EUR][1000 genomes]
rs4681208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4681636	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62269086	0.90[EUR][1000 genomes]
rs62269087	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62269088	1.00[AFR][1000 genomes]
rs62269099	1.00[AFR][1000 genomes]
rs62269102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62283992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62283993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62283994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62284023	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62284024	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62284025	1.00[AFR][1000 genomes]
rs67548051	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6794400	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6802114	0.88[EUR][1000 genomes]
rs73169829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73169833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150265000-150272800	Weak transcription	Spleen	Spleen
2	chr3:150265200-150270800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:150265200-150272800	Weak transcription	Lung	lung
4	chr3:150265200-150273200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:150265200-150299400	Weak transcription	Esophagus	oesophagus
6	chr3:150265200-150302800	Weak transcription	Gastric	stomach
7	chr3:150265400-150270600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr3:150265400-150270800	Weak transcription	Left Ventricle	heart
9	chr3:150265400-150271200	Weak transcription	Ovary	ovary
10	chr3:150265400-150271600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr3:150265400-150279600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr3:150265400-150305800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr3:150265600-150270000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr3:150265600-150270200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr3:150265600-150270200	Weak transcription	Brain Angular Gyrus	brain
16	chr3:150265600-150270600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr3:150265600-150270800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr3:150265600-150271000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr3:150265600-150271200	Weak transcription	Fetal Muscle Leg	muscle
20	chr3:150265600-150271600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr3:150265600-150272200	Weak transcription	Thymus	Thymus
22	chr3:150265600-150272400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr3:150265600-150272400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr3:150265600-150273600	Weak transcription	Right Atrium	heart
25	chr3:150265600-150284600	Weak transcription	Right Ventricle	heart
26	chr3:150265600-150293400	Weak transcription	Aorta	Aorta
27	chr3:150265600-150294000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr3:150265600-150304200	Weak transcription	Fetal Brain Male	brain
29	chr3:150265600-150320600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:150265600-150320600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr3:150265800-150270200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr3:150266000-150270000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr3:150266000-150270200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr3:150266000-150270800	Weak transcription	Fetal Intestine Large	intestine
35	chr3:150266000-150271400	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr3:150266000-150271400	Weak transcription	HSMMtube	muscle
37	chr3:150266000-150271600	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr3:150266000-150271600	Weak transcription	Fetal Kidney	kidney
39	chr3:150266000-150271600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr3:150266000-150273600	Weak transcription	Brain Substantia Nigra	brain
41	chr3:150266000-150273600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr3:150266000-150284400	Weak transcription	Brain Anterior Caudate	brain
43	chr3:150266000-150285000	Weak transcription	Colonic Mucosa	Colon
44	chr3:150266000-150304600	Weak transcription	Fetal Heart	heart
45	chr3:150266000-150307600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr3:150266200-150270000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr3:150266200-150270200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr3:150266200-150270200	Weak transcription	Adipose Nuclei	Adipose
49	chr3:150266200-150270400	Weak transcription	Primary B cells from cord blood	blood
50	chr3:150266200-150271200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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