Variant report

Variant	rs73001339
Chromosome Location	chr3:150282954-150282955
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	chr3:150282511-150283529	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:150273199..150278590-chr3:150279428..150284262,5	K562	blood:
2	chr3:150280671..150283551-chr3:150285124..150288569,3	K562	blood:
3	chr3:150277090..150279945-chr3:150281448..150284053,2	K562	blood:
4	chr3:150262880..150265535-chr3:150280417..150283149,2	K562	blood:

Variant related genes	Relation type
EIF2A	TF binding region
ENSG00000120742	Chromatin interaction
ENSG00000144895	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs16862718	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58823857	1.00[EUR][1000 genomes]
rs6772881	1.00[EUR][1000 genomes]
rs6774750	1.00[EUR][1000 genomes]
rs6794743	1.00[EUR][1000 genomes]
rs73001325	1.00[EUR][1000 genomes]
rs73001336	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73001358	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73003034	1.00[EUR][1000 genomes]
rs73003079	1.00[EUR][1000 genomes]
rs935223	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	chr3:150265600-150284600	Weak transcription	Right Ventricle	heart
5	chr3:150265600-150293400	Weak transcription	Aorta	Aorta
6	chr3:150265600-150294000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr3:150265600-150304200	Weak transcription	Fetal Brain Male	brain
8	chr3:150265600-150320600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:150265600-150320600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr3:150266000-150284400	Weak transcription	Brain Anterior Caudate	brain
11	chr3:150266000-150285000	Weak transcription	Colonic Mucosa	Colon
12	chr3:150266000-150304600	Weak transcription	Fetal Heart	heart
13	chr3:150266000-150307600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr3:150266400-150293400	Weak transcription	Psoas Muscle	Psoas
15	chr3:150266400-150302200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr3:150268600-150304000	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr3:150269400-150284000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr3:150272400-150284600	Weak transcription	Brain Hippocampus Middle	brain
19	chr3:150272400-150293800	Weak transcription	Small Intestine	intestine
20	chr3:150272600-150283800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr3:150272800-150283000	Weak transcription	Colon Smooth Muscle	Colon
22	chr3:150272800-150283400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr3:150272800-150286400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr3:150272800-150290400	Strong transcription	Dnd41	blood
25	chr3:150273600-150285400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr3:150273800-150283000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr3:150274000-150283000	Weak transcription	Fetal Muscle Leg	muscle
28	chr3:150274000-150283400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr3:150274000-150283600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr3:150274000-150283800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr3:150274000-150284400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr3:150274000-150284400	Weak transcription	Left Ventricle	heart
33	chr3:150274000-150284600	Weak transcription	Ovary	ovary
34	chr3:150274000-150284600	Weak transcription	HSMMtube	muscle
35	chr3:150274000-150284600	Weak transcription	NHEK	skin
36	chr3:150274000-150284600	Weak transcription	NHLF	lung
37	chr3:150274000-150286400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr3:150274000-150287400	Weak transcription	Brain Germinal Matrix	brain
39	chr3:150274000-150288200	Weak transcription	Lung	lung
40	chr3:150274000-150288200	Weak transcription	Spleen	Spleen
41	chr3:150274000-150288600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr3:150274000-150289600	Weak transcription	Thymus	Thymus
43	chr3:150274000-150293400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr3:150274000-150293600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr3:150274000-150303000	Weak transcription	Pancreas	Pancrea
46	chr3:150274200-150283800	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr3:150274200-150284000	Weak transcription	Primary T cells from cord blood	blood
48	chr3:150274200-150284000	Weak transcription	HepG2	liver
49	chr3:150274200-150293600	Weak transcription	Brain Substantia Nigra	brain
50	chr3:150274400-150293400	Weak transcription	Brain Cingulate Gyrus	brain

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